Bleeding in the Digestive

  • What are the signs of bleeding in the digestive tract?
  • What causes bleeding in the digestive tract?
  • How is bleeding in the digestive tract diagnosed?
  • How is bleeding in the digestive tract treated?
  • Points to Remember
  • Hope through Research
  • For More Information
Bleeding in the digestive tract is a symptom of a disease rather than a disease itself. A number of different conditions can cause bleeding. Most causes of bleeding are related to conditions that can be cured or controlled, such as ulcers or hemorrhoids. Some causes of bleeding may be life threatening.
Locating the source of bleeding is important. Different conditions cause bleeding in the upper digestive tract and the lower digestive tract. The upper digestive tract includes the esophagus, stomach, and upper portion of the small intestine, also called the duodenum. The lower digestive tract includes the lower portion of the small intestine; large intestine, which includes the colon and rectum; and anus.
Drawing of the digestive tract. The esophagus, stomach, duodenum, small intestine, colon, rectum, and anus are labeled. The colon is shaded.
The digestive tract

What are the signs of bleeding in the digestive tract?

The signs of bleeding in the digestive tract depend on the site and severity of bleeding.
Signs of bleeding in the upper digestive tract include
  • bright red blood in vomit
  • vomit that looks like coffee grounds
  • black or tarry stool
  • dark blood mixed with stool
  • stool mixed or coated with bright red blood
Signs of bleeding in the lower digestive tract include
  • black or tarry stool
  • dark blood mixed with stool
  • stool mixed or coated with bright red blood
Sudden, severe bleeding is called acute bleeding. If acute bleeding occurs, symptoms may include
  • weakness
  • dizziness or faintness
  • shortness of breath
  • crampy abdominal pain
  • diarrhea
  • paleness
A person with acute bleeding may go into shock, experiencing a rapid pulse, a drop in blood pressure, and difficulty producing urine.
Light bleeding that continues for a long time or starts and stops is called chronic bleeding. If bleeding is chronic, a person may notice that fatigue, lethargy, and shortness of breath develop over time. Chronic blood loss can also lead to anemia, a condition in which the blood's iron-rich substance, hemoglobin, is diminished.
A person may not notice a small amount of bleeding in the digestive tract. This type of bleeding is called occult bleeding. Simple tests can detect occult blood in the stool.

What causes bleeding in the digestive tract?

A variety of conditions can cause bleeding in the digestive tract. Causes of bleeding in the upper digestive tract include the following:
  • Peptic ulcers. Helicobacter pylori (H. pylori) infections and long-term use of nonsteroidal anti-inflammatory drugs (NSAIDs), such as aspirin and ibuprofen, are common causes of peptic ulcers.
  • Esophageal varices. Varices, or enlarged veins, located at the lower end of the esophagus may rupture and bleed massively. Cirrhosis is the most common cause of esophageal varices.
  • Mallory-Weiss tears. These tears in the lining of the esophagus usually result from vomiting. Increased pressure in the abdomen from coughing, hiatal hernia, or childbirth can also cause tears.
  • Gastritis. NSAIDs and other drugs, infections, Crohn's disease, illnesses, and injuries can cause gastritis—inflammation and ulcers in the lining of the stomach.
  • Esophagitis. Gastroesophageal reflux disease (GERD) is the most common cause of esophagitis—inflammation and ulcers in the lining of the esophagus. In GERD, the muscle between the esophagus and stomach fails to close properly, allowing food and stomach juices to flow back into the esophagus.
  • Benign tumors and cancer. A benign tumor is an abnormal tissue growth that is not cancerous. Benign tumors and cancer in the esophagus, stomach, or duodenum may cause bleeding.
Causes of bleeding in the lower digestive tract include the following:
  • Diverticular disease. This disease is caused by diverticula—pouches in the colon wall.
  • Colitis. Infections, diseases such as Crohn's disease, lack of blood flow to the colon, and radiation can cause colitis—inflammation of the colon.
  • Hemorrhoids or fissures. Hemorrhoids are enlarged veins in the anus or rectum that can rupture and bleed. Fissures, or ulcers, are cuts or tears in the anal area.
  • Angiodysplasia. Aging causes angiodysplasia—abnormalities in the blood vessels of the intestine.
  • Polyps or cancer. Benign growths or polyps in the colon are common and may lead to cancer. Colorectal cancer is the third most common cancer in the United States and often causes occult bleeding.1
1 Common cancer types. National Cancer Institute website. www.cancer.gov/cancertopics/commoncancers#1. Updated May 7, 2009. Accessed October 26, 2009.

How is bleeding in the digestive tract diagnosed?

The first step in diagnosing bleeding in the digestive tract is locating the site of the bleeding. The doctor will take the patient's complete medical history and perform a physical examination. Symptoms such as changes in bowel habits, black or red stools, and pain or tenderness in the abdomen may tell the doctor which area of the digestive tract is bleeding.
The doctor may need to test the stool for blood. Iron supplements, bismuth subsalicylate (Pepto-Bismol), or certain foods such as beets can give the stool the same appearance as bleeding from the digestive tract. Stool tests can also show bleeding that is not visible to the patient.
A blood test can help determine the extent of the bleeding and whether the patient is anemic.
Nasogastric lavage is a procedure that can be used to determine whether the bleeding is in the upper or lower digestive tract. With nasogastric lavage, a tube is inserted through the nose and into the stomach. The contents of the stomach are removed through the tube. If the stomach contains bile and does not contain blood, the bleeding either has stopped or is likely in the lower digestive tract.

Endoscopy

Endoscopy is the most common method for finding the source of bleeding in the digestive tract. An endoscope is a flexible tube with a small camera on the end. The doctor inserts the endoscope through the patient's mouth to view the esophagus, stomach, and duodenum. This examination is called esophagogastroduodenoscopy (EGD). An endoscope can also be inserted through the rectum to view the colon. This procedure is called colonoscopy. The doctor can use the endoscope to do a biopsy, which involves collecting small samples of tissue for examination with a microscope.
Bleeding that cannot be found with endoscopy is called obscure bleeding. The doctor may repeat the endoscopy or use other procedures to find the cause of obscure bleeding.

Enteroscopy

Enteroscopy is an examination of the small intestine. Because traditional endoscopes cannot reach the small intestine, special endoscopes are used for enteroscopy.
Enteroscopy procedures include
  • Push enteroscopy. A long endoscope is used to examine the upper portion of the small intestine.
  • Double-balloon enteroscopy. Balloons are mounted on the endoscope to help the endoscope move through the entire small intestine.
  • Capsule endoscopy. The person swallows a capsule containing a tiny camera. The camera transmits images to a video monitor as the capsule passes through the digestive tract. This procedure is designed to examine the small intestine, but it also allows the doctor to examine the rest of the digestive tract.

Other Procedures

Several other methods can help locate the source of bleeding:
  • Barium x rays. Barium is a contrast material that makes the digestive tract visible in an x ray. A liquid containing barium is either swallowed or inserted into the rectum. Barium x rays are less accurate than endoscopy and may interfere with other diagnostic techniques.
  • Radionuclide scanning. The doctor injects small amounts of radioactive material into the person's vein. A special camera, similar to an x-ray machine, can detect this radiation and create images of blood flow in the digestive tract. Radionuclide scanning is sensitive enough to detect very slow bleeding, but it is not as accurate as other procedures.
  • Angiography. A dye is injected into the person's vein to make blood vessels visible in x-ray or computerized tomography (CT) scans. Dye leaks out of the blood vessels at the bleeding site. In some cases, the doctor can use angiography to inject medicine or other material into blood vessels to try to stop the bleeding.
  • Exploratory laparotomy. If other methods cannot locate the source of the bleeding, a surgical procedure may be necessary to examine the digestive tract.

How is bleeding in the digestive tract treated?

Endoscopy can be used to stop bleeding in the digestive tract. A doctor can insert tools through the endoscope to
  • inject chemicals into the bleeding site
  • treat the bleeding site and surrounding tissue with a heat probe, electric current, or laser
  • close affected blood vessels with a band or clip
Endoscopy does not always control bleeding. Angiography can be used to inject medicine or other material into blood vessels to control some types of bleeding. If endoscopy and angiography do not work, the patient may need other treatments or surgery to stop the bleeding.
To prevent bleeding in the future, doctors can treat the conditions that cause bleeding, such as
  • H. pylori and other infections
  • GERD
  • ulcers
  • hemorrhoids
  • polyps
  • inflammatory bowel diseases

Points to Remember

  • Bleeding in the digestive tract is a symptom of a disease rather than a disease itself.
  • A number of different conditions can cause bleeding in the digestive tract.
  • Finding the location and cause of the bleeding is important.
  • Most causes of bleeding can be cured or controlled.
  • Endoscopy is the most common tool for diagnosing and treating bleeding in the digestive tract.

Hope through Research

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) sponsors research to improve treatment for patients with digestive diseases that cause bleeding in the digestive tract, including diverticular disease, GERD, and inflammatory bowel diseases.
Participants in clinical trials can play a more active role in their own health care, gain access to new research treatments before they are widely available, and help others by contributing to medical research. For information about current studies, visit www.ClinicalTrials.gov.

For More Information

American College of Gastroenterology
P.O. Box 342260
Bethesda, MD 20827–2260
Phone: 301–263–9000
Internet: www.acg.gi.org leaving site icon
American Gastroenterological Association
National Office
4930 Del Ray Avenue
Bethesda, MD 20814
Phone: 301–654–2055
Fax: 301–654–5920
Email: member@gastro.org
Internet: www.gastro.org leaving site icon

Hepatitis B What Asian and Pacific Islander Americans Need to Know

  • What is hepatitis B?
  • What is chronic hepatitis B?
  • Why are Asian and Pacific Islander Americans at higher risk?
  • What are the symptoms of chronic hepatitis B?
  • Who is at risk for hepatitis B?
  • How can I protect myself and others from hepatitis B?
  • How can I protect my baby from hepatitis B?
  • Where can I get more information about hepatitis B?
Did you know that Asian and Pacific Islander Americans and other foreign-born Americans are at higher risk for chronic hepatitis B, which can lead to liver failure and liver cancer?

What is hepatitis B?

Hepatitis B is a liver disease spread through contact with blood, semen, or other body fluids from a person infected with the hepatitis B virus. The disease is most commonly spread from an infected mother to her infant at birth. Hepatitis B is also spread through sex, wound-to-wound contact, and contact with items that may have blood on them, such as shaving razors, toothbrushes, syringes, and tattoo and body piercing needles.
Hepatitis B is not spread through casual contact such as shaking hands or hugging; nor is it spread by sharing food or beverages, by sneezing and coughing, or through breastfeeding.

What is chronic hepatitis B?

Hepatitis B may start as a brief, fl ulike illness. Most healthy adults and children older than 5 completely recover after the body’s immune system gets rid of the virus.
Hepatitis B becomes chronic when the body’s immune system can’t get rid of the virus. Over time, having the virus can lead to inflammation of the liver; scar tissue in the liver, called cirrhosis; or liver cancer. Inflammation is the painful red swelling that results when tissues of the body become infected. Young children and people with weakened immune systems are especially at risk. People who were infected as infants have a 90 percent chance of developing chronic hepatitis B.1
1Weinbaum CM, Williams I, Mast EE et al. Recommendations for identification and public health management of persons with chronic hepatitis B virus infection. Morbidity and Mortality Weekly Report Recommendations and Reports. 2008 September 19;57(RR–8):1–20.

Why are Asian and Pacific Islander Americans at higher risk?

Since 1986, a hepatitis B vaccine has been available and should be given to newborns and children in the United States. The vaccine, however, is unavailable—or has only recently become available—in many parts of the world. You are at higher risk for hepatitis B if you or your mother was born in a region of the world where hepatitis B is common, meaning 2 percent or more of the population is chronically infected with the hepatitis B virus.1 In most Asian and Pacific Island nations, 8 to 16 percent of the population is chronically infected.2
2 Custer B, Sullivan SD, Hazlet TK, Iloeje U, Veenstra DL, Kowdley KV. Global epidemiology of hepatitis B virus. Journal of Clinical Gastroenterology. 2004 November;38(10 Suppl 3):S158–S168.

What are the symptoms of chronic hepatitis B?

Hepatitis B is called a “silent killer” because many people have no symptoms, so the disease often progresses unnoticed for years. Unfortunately, many people first learn they have chronic hepatitis B when they develop symptoms of severe liver damage, which include
  • yellowish eyes and skin, called jaundice
  • a swollen stomach or ankles
  • tiredness
  • nausea
  • weakness
  • loss of appetite
  • weight loss
  • spiderlike blood vessels, called spider angiomas, that develop on the skin

Who is at risk for hepatitis B?

Anyone can get hepatitis B, but some people are at higher risk, including
  • people who were born to a mother with hepatitis B
  • people who have close household contact with someone infected with the hepatitis B virus
  • people who have lived in parts of the world where hepatitis B is common, including most Asian and Pacific Island nations
  • people who are exposed to blood or body fluids at work
  • people on hemodialysis
  • people whose sex partner(s) has hepatitis B
  • people who have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease
  • injection drug users
  • men who have sex with men

May is Hepatitis Awareness Month and Asian American and Pacific Islander Heritage Month

May is Hepatitis Awareness Month and Asian American and Pacific Islander Heritage Month. This year, CDC's Division of Viral Hepatitis is focusing on raising awareness about hepatitis B among Asian Americans and Pacific Islanders (AAPIs) and encouraging AAPIs to talk to their doctors about getting tested for hepatitis B.

What should AAPIs know about Hepatitis B?


Hepatitis B affects 1 in 12 Asians Americans and Pacific Islanders
Photo: Family sitting on park benchHepatitis B is common in many parts of the world, with an estimated 350 million people living with the disease worldwide. In the US, an estimated 1.2 million Americans are infected. However, hepatitis B disproportionately affects Asian Americans and Pacific Islanders because it is especially common in many Asian and Pacific Island countries. While AAPIs make up less than 5% of the total U.S. population, they account for more than 50% of Americans living with chronic hepatitis B.
Hepatitis B is serious
If left untreated, up to 25 percent of people with hepatitis B develop serious liver problems such as cirrhosis and even liver cancer. In the US, chronic hepatitis B infection results in thousands of deaths per year. Liver cancer caused by the hepatitis B virus is a leading cause of cancer deaths among Asian Americans.
As many as 2 in 3 Asian Americans with hepatitis B don't know they are infected
People can live with hepatitis B without having any symptoms or feeling sick. Many people with chronic hepatitis B got infected as infants or young children. It is usually spread when someone comes into contact with blood from someone who has the virus. As many as 2 in 3 AAPIs living with the virus do not know they are infected. Often, people do not know they have hepatitis B until they have been tested.

Who should get tested for Hepatitis B?

  • Anyone born in Asia or the Pacific Islands (except New Zealand and Australia)
  • Anyone born in the United States, who was not vaccinated at birth, and has at least one parent born in East or Southeast Asia (except Japan) or the Pacific Islands (except New Zealand and Australia)
Hepatitis B testing identifies people living with chronic hepatitis B so they can get medical care to help prevent serious liver damage. Testing also helps to find other people who may not have hepatitis B, but are at risk for getting infected. This can include people living with someone with hepatitis B.
For more information, talk to a doctor about getting tested for Hepatitis B.

How can I protect myself and others from hepatitis B?

Get tested if you are from an Asian or Pacific Island nation or other region where the hepatitis B virus is common. The sooner you get tested, the sooner you can take steps to protect yourself and others.
A health care provider can test your blood to see if you are currently infected or were infected in the past. If you test positive, your doctor may measure virus and liver enzyme levels in your blood to determine if the virus is active or causing liver injury. The doctor may use ultrasound—a procedure that uses sound waves to create images of the body's internal tissues and organs—to screen for liver cancer, also called hepatocellular carcinoma. You may not need treatment right away, but you will need periodic tests to monitor the health of your liver. Encourage your family members and other close personal contacts to get tested.
Hepatitis B is preventable. Get vaccinated if you have not been infected. The hepatitis B vaccine is given in three shots over 6 months. You must get all three shots to be fully protected. The vaccine is safe for people of all ages, including pregnant women and infants.
If you think you have been recently exposed to the hepatitis B virus, see your doctor right away. The first dose of hepatitis B vaccine combined with hepatitis B immune globulin—an injection of antibodies that temporarily protects against hepatitis B infection—may prevent infection.
No cure exists for hepatitis B, but several medicines are approved for treating chronic hepatitis B. The goal of treatment is to reduce the risk of liver damage, liver cirrhosis, and liver cancer by decreasing liver inflammation and the amount of virus in the body. Current medicines do not completely get rid of the virus, so treatment is often lifelong. People with chronic hepatitis B should avoid alcohol, drugs, supplements, and herbal medicines that may harm the liver.

How can I protect my baby from hepatitis B?

Getting tested for hepatitis B is especially important for pregnant women. If you are not infected, get the vaccine. If you have hepatitis B, make sure the doctor and staff that deliver your baby know so they can minimize your baby’s risk of infection. The hepatitis B vaccine and hepatitis B immune globulin should be given to your baby immediately after birth, greatly reducing the chance of infection.

Where can I get more information about hepatitis B?

Centers for Disease Control and Prevention
National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention
Division of Viral Hepatitis
1600 Clifton Road, Mailstop G–37
Atlanta, GA 30333
Phone: 1–800–232–4636
TTY: 1–888–232–6348
Fax: 404–718–8588
Email: cdcinfo@cdc.gov
Internet: www.cdc.gov/hepatitis

Appendicitis Symptoms, Causes, Surgery, and Recovery

  • What is appendicitis?
  • What is the appendix?
  • What causes appendicitis?
  • Who gets appendicitis?
  • What are the symptoms of appendicitis?
  • How is appendicitis diagnosed?
  • How is appendicitis treated?
  • What are the complications and treatment of a burst appendix?
  • What if the surgeon finds a normal appendix?
  • Can appendicitis be treated without surgery?
  • What should people do if they think they have appendicitis?
  • Eating, Diet, and Nutrition
  • Points to Remember
  • Hope through Research
  • For More Information

What is appendicitis?

Appendicitis is inflammation of the appendix. Appendicitis is the leading cause of emergency abdominal operations.1
1Spirt MJ. Complicated intra-abdominal infections: a focus on appendicitis and diverticulitis.

What is the appendix?

The appendix is a fingerlike pouch attached to the large intestine in the lower right area of the abdomen, the area between the chest and hips. The large intestine is part of the body’s gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, helps digest food. The appendix does not appear to have a specific function in the body, and removing it does not seem to affect a person’s health.
The inside of the appendix is called the appendiceal lumen. Normally, mucus created by the appendix travels through the appendiceal lumen and empties into the large intestine. The large intestine absorbs water from stool and changes it from a liquid to a solid form.
 gastrointestinal tract.
The appendix is a fingerlike pouch attached to the large intestine in the lower right area of the abdomen.


What causes appendicitis?

An obstruction, or blockage, of the appendiceal lumen causes appendicitis. Mucus backs up in the appendiceal lumen, causing bacteria that normally live inside the appendix to multiply. As a result, the appendix swells and becomes infected. Sources of blockage include
  • stool, parasites, or growths that clog the appendiceal lumen
  • enlarged lymph tissue in the wall of the appendix, caused by infection in the GI tract or elsewhere in the body
  • inflammatory bowel disease (IBD), which includes Crohn’s disease and ulcerative colitis, long-lasting disorders that cause irritation and ulcers in the GI tract
  • trauma to the abdomen
An inflamed appendix will likely burst if not removed.


Who gets appendicitis?

Anyone can get appendicitis, although it is more common among people 10 to 30 years old.1


What are the symptoms of appendicitis?

The symptoms of appendicitis are typically easy for a health care provider to diagnose. The most common symptom of appendicitis is abdominal pain.
Abdominal pain with appendicitis usually
  • occurs suddenly, often waking a person at night
  • occurs before other symptoms
  • begins near the belly button and then moves lower and to the right
  • is unlike any pain felt before
  • gets worse in a matter of hours
  • gets worse when moving around, taking deep breaths, coughing, or sneezing
Other symptoms of appendicitis may include
  • loss of appetite
  • nausea
  • vomiting
  • constipation or diarrhea
  • an inability to pass gas
  • a low-grade fever that follows other symptoms
  • abdominal swelling
  • the feeling that passing stool will relieve discomfort
Symptoms vary and can mimic the following conditions that cause abdominal pain:
  • intestinal obstruction—a partial or total blockage in the intestine that prevents the flow of fluids or solids.
  • IBD.
  • pelvic inflammatory disease—an infection of the female reproductive organs.
  • abdominal adhesions—bands of tissue that form between abdominal tissues and organs. Normally, internal tissues and organs have slippery surfaces that let them shift easily as the body moves. Adhesions cause tissues and organs to stick together.
  • constipation—a condition in which a person usually has fewer than three bowel movements in a week. The bowel movements may be painful.
Appendicitis is an inflammation of the appendix, a 3 1/2-inch-long tube of tissue that extends from the large intestine. No one is absolutely certain what the function of the appendix is. One thing we do know: We can live without it, without apparent consequences.
Appendicitis is a medical emergency that requires prompt surgery to remove the appendix. Left untreated, an inflamed appendix will eventually burst, or perforate, spilling infectious materials into the abdominal cavity. This can lead to peritonitis, a serious inflammation of the abdominal cavity's lining (the peritoneum) that can be fatal unless it is treated quickly with strong antibiotics.
appendix
Sometimes a pus-filled abscess (infection that is walled off from the rest of the body) forms outside the inflamed appendix. Scar tissue then "walls off" the appendix from the rest of the abdomen, preventing infection from spreading. An abscessed appendix is a less urgent situation, but unfortunately, it can't be identified without surgery. For this reason, all cases of appendicitis are treated as emergencies, requiring surgery.
In the U.S., one in 15 people will get appendicitis. Although it can strike at any age, appendicitis is rare under age 2 and most common between ages 10 and 30.
What Are the Symptoms of Appendicitis?
The classic symptoms of appendicitis include:
  • Dull pain near the navel or the upper abdomen that becomes sharp as it moves to the lower right abdomen. This is usually the first sign.
  • Loss of appetite
  • Nausea and/or vomiting soon after abdominal pain begins
  • Abdominal swelling
  • Fever of 99-102 degrees Fahrenheit
  • Inability to pass gas
Almost half the time, other symptoms of appendicitis appear, including:
  • Dull or sharp pain anywhere in the upper or lower abdomen, back, or rectum
  • Painful urination
  • Vomiting that precedes the abdominal pain
  • Severe cramps
  • Constipation or diarrhea with gas
If you have any of the mentioned symptoms, seek medical attention immediately since timely diagnosis and treatment is very important. Do not eat, drink, or use any pain remedies, antacids, laxatives, or heating pads, which can cause an inflamed appendix to rupture.

How is appendicitis diagnosed?

A health care provider can diagnose most cases of appendicitis by taking a person’s medical history and performing a physical exam.
If a person does not have the usual symptoms, health care providers may use laboratory and imaging tests to confirm appendicitis. These tests also may help diagnose appendicitis in people who cannot adequately describe their symptoms, such as children or people who are mentally impaired.

Medical History

The health care provider will ask specific questions about symptoms and health history. Answers to these questions will help rule out other conditions. The health care provider will want to know
  • when the abdominal pain began
  • the exact location and severity of the pain
  • when other symptoms appeared
  • other medical conditions, previous illnesses, and surgical procedures
  • whether the person uses medications, alcohol, or illegal drugs

Physical Exam

Details about the person’s abdominal pain are key to diagnosing appendicitis. The health care provider will assess the pain by touching or applying pressure to specific areas of the abdomen.
Responses that may indicate appendicitis include
  • Rovsing’s sign. A health care provider tests for Rovsing’s sign by applying hand pressure to the lower left side of the abdomen. Pain felt on the lower right side of the abdomen upon the release of pressure on the left side indicates the presence of Rovsing’s sign.
  • Psoas sign. The right psoas muscle runs over the pelvis near the appendix. Flexing this muscle will cause abdominal pain if the appendix is inflamed. A health care provider can check for the psoas sign by applying resistance to the right knee as the patient tries to lift the right thigh while lying down.
  • Obturator sign. The right obturator muscle also runs near the appendix. A health care provider tests for the obturator sign by asking the patient to lie down with the right leg bent at the knee. Moving the bent knee left and right requires flexing the obturator muscle and will cause abdominal pain if the appendix is inflamed.
  • Guarding. Guarding occurs when a person subconsciously tenses the abdominal muscles during an exam. Voluntary guarding occurs the moment the health care provider’s hand touches the abdomen. Involuntary guarding occurs before the health care provider actually makes contact and is a sign the appendix is inflamed.
  • Rebound tenderness. A health care provider tests for rebound tenderness by applying hand pressure to a person’s lower right abdomen and then letting go. Pain felt upon the release of the pressure indicates rebound tenderness and is a sign the appendix is inflamed. A person may also experience rebound tenderness as pain when the abdomen is jarred—for example, when a person bumps into something or goes over a bump in a car.
Women of childbearing age may be asked to undergo a pelvic exam to rule out gynecological conditions, which sometimes cause abdominal pain similar to appendicitis.
The health care provider also may examine the rectum, which can be tender from appendicitis.

Laboratory Tests

Laboratory tests can help confirm the diagnosis of appendicitis or find other causes of abdominal pain.
  • Blood tests. A blood test involves drawing a person’s blood at a health care provider’s office or a commercial facility and sending the sample to a laboratory for analysis. Blood tests can show signs of infection, such as a high white blood cell count. Blood tests also may show dehydration or fluid and electrolyte imbalances. Electrolytes are chemicals in the body fluids, including sodium, potassium, magnesium, and chloride.
  • Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care provider’s office, a commercial facility, or a hospital and can be tested in the same location or sent to a laboratory for analysis. Urinalysis is used to rule out a urinary tract infection or a kidney stone.
  • Pregnancy test. Health care providers also may order a pregnancy test for women, which can be done through a blood or urine test.

Imaging Tests

Imaging tests can confirm the diagnosis of appendicitis or find other causes of abdominal pain.
  • Abdominal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The transducer can be moved to different angles to make it possible to examine different organs. In abdominal ultrasound, the health care provider applies gel to the patient’s abdomen and moves a hand-held transducer over the skin. The gel allows the transducer to glide easily, and it improves the transmission of the signals. The procedure is performed in a health care provider’s office, an outpatient center, or a hospital by a specially trained technician, and the images are interpreted by a radiologist—a doctor who specializes in medical imaging; anesthesia is not needed. Abdominal ultrasound creates images of the appendix and can show signs of inflammation, a burst appendix, a blockage in the appendiceal lumen, and other sources of abdominal pain. Ultrasound is the first imaging test performed for suspected appendicitis in infants, children, young adults, and pregnant women.
  • Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the body’s internal organs and soft tissues without using x rays. The procedure is performed in an outpatient center or a hospital by a specially trained technician, and the images are interpreted by a radiologist. Anesthesia is not needed, though children and people with a fear of confined spaces may receive light sedation, taken by mouth. An MRI may include the injection of special dye, called contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some machines are designed to allow the person to lie in a more open space. An MRI can show signs of inflammation, a burst appendix, a blockage in the appendiceal lumen, and other sources of abdominal pain. An MRI used to diagnose appendicitis and other sources of abdominal pain is a safe, reliable alternative to a computerized tomography (CT) scan.2
  • CT scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. For a CT scan, the person may be given a solution to drink and an injection of contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or a hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. Children may be given a sedative to help them fall asleep for the test. A CT scan of the abdomen can show signs of inflammation, such as an enlarged appendix or an abscess—a pus-filled mass that results from the body’s attempt to keep an infection from spreading—and other sources of abdominal pain, such as a burst appendix and a blockage in the appendiceal lumen. Women of childbearing age should have a pregnancy test before undergoing a CT scan. The radiation used in CT scans can be harmful to a developing fetus.
2Heverhagen J, Pfestroff K, Heverhagen A, Klose K, Kessler K, Sitter H. Diagnostic accuracy of magnetic resonance imaging: a prospective evaluation of patients with suspected appendicitis (diamond). Journal of Magnetic Resonance Imaging. 2012;35:617–623.


How is appendicitis treated?

Appendicitis is typically treated with surgery to remove the appendix. The surgery is performed in a hospital; general anesthesia is needed. If appendicitis is suspected, especially in patients who have persistent abdominal pain and fever, or signs of a burst appendix and infection, a health care provider will often suggest surgery without conducting diagnostic testing. Prompt surgery decreases the chance that the appendix will burst.
Surgery to remove the appendix is called an appendectomy. A surgeon performs the surgery using one of the following methods:
  • Laparotomy. Laparotomy removes the appendix through a single incision in the lower right area of the abdomen.
  • Laparoscopic surgery. Laparoscopic surgery uses several smaller incisions and special surgical tools fed through the incisions to remove the appendix. Laparoscopic surgery leads to fewer complications, such as hospital-related infections, and has a shorter recovery time.
With adequate care, most people recover from appendicitis and do not need to make changes to diet, exercise, or lifestyle. Surgeons recommend limiting physical activity for the first 10 to 14 days after a laparotomy and for the first 3 to 5 days after laparoscopic surgery.

What are the complications and treatment of a burst appendix?

A burst appendix spreads infection throughout the abdomen—a potentially dangerous condition called peritonitis. A person with peritonitis may be extremely ill and have nausea, vomiting, fever, and severe abdominal tenderness. This condition requires immediate surgery through laparotomy to clean the abdominal cavity and remove the appendix. Without prompt treatment, peritonitis can cause death.
Sometimes an abscess forms around a burst appendix—called an appendiceal abscess. A surgeon may drain the pus from the abscess during surgery or, more commonly, before surgery. To drain an abscess, a tube is placed in the abscess through the abdominal wall. The drainage tube is left in place for about 2 weeks while antibiotics are given to treat infection. Six to 8 weeks later, when infection and inflammation are under control, surgeons operate to remove what remains of the burst appendix.


What if the surgeon finds a normal appendix?

Occasionally, a surgeon finds a normal appendix. In this case, many surgeons will remove it to eliminate the future possibility of appendicitis. Occasionally, surgeons find a different problem, which may also be corrected during surgery.


Can appendicitis be treated without surgery?

Nonsurgical treatment may be used if surgery is not available, a person is not well enough to undergo surgery, or the diagnosis is unclear. Nonsurgical treatment includes antibiotics to treat infection.

What should people do if they think they have appendicitis?

Appendicitis is a medical emergency that requires immediate care. People who think they have appendicitis should see a health care provider or go to the emergency room right away. Swift diagnosis and treatment reduce the chances the appendix will burst and improve recovery time.


Eating, Diet, and Nutrition

Researchers have not found that eating, diet, and nutrition play a role in causing or preventing appendicitis. If a health care provider prescribes nonsurgical treatment for a person with appendicitis, the person will be asked to follow a liquid or soft diet until the infection subsides. A soft diet is low in fiber and is easily digested in the GI tract. A soft diet includes foods such as milk, fruit juices, eggs, puddings, strained soups, rice, ground meats, fish, and mashed, boiled, or baked potatoes. People can talk with their health care provider to discuss dietary changes.


Points to Remember

  • Appendicitis is inflammation of the appendix.
  • The appendix is a fingerlike pouch attached to the large intestine and located in the lower right area of the abdomen. The inside of the appendix is called the appendiceal lumen.
  • An obstruction, or blockage, of the appendiceal lumen causes appendicitis.
  • The most common symptom of appendicitis is abdominal pain. Other symptoms of appendicitis may include loss of appetite, nausea, vomiting, constipation, diarrhea, an inability to pass gas, a low-grade fever, abdominal swelling, and the feeling that passing stool will relieve discomfort
  • A health care provider can diagnose most cases of appendicitis by taking a person’s medical history and performing a physical exam. If a person does not have the usual symptoms, health care providers may use laboratory and imaging tests to confirm appendicitis.
  • Appendicitis is typically treated with surgery to remove the appendix.
  • Nonsurgical treatment may be used if surgery is not available, a person is not well enough to undergo surgery, or the diagnosis is unclear. Nonsurgical treatment includes antibiotics to treat infection.
  • Appendicitis is a medical emergency that requires immediate care.
  • If a health care provider prescribes nonsurgical treatment for a person with appendicitis, the person will be asked to follow a liquid or soft diet until the infection subsides.


Hope through Research

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other components of the National Institutes of Health (NIH) conduct and support basic and clinical research into many digestive disorders, including appendicitis.
Clinical trials are research studies involving people. Clinical trials look at safe and effective new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. To learn more about clinical trials, why they matter, and how to participate, visit the NIH Clinical Research Trials and You website at www.nih.gov/health/ clinicaltrials. For information about current studies, visit www.ClinicalTrials.gov.


For More Information

American Academy of Family Physicians
P.O. Box 11210
Shawnee Mission, KS 66207–1210
Phone: 1–800–274–2237 or 913–906–6000
Email: contactcenter@aafp.org
Internet: www.aafp.orgleaving site icon
American College of Surgeons
633 North Saint Clair Street
Chicago, IL 60611–3211
Phone: 1–800–621–4111 or 312–202–5000
Fax: 312–202–5001
Email: postmaster@facs.org
Internet: www.facs.orgleaving site icon
American Society of Colon and Rectal Surgeons
85 West Algonquin Road, Suite 550
Arlington Heights, IL 60005
Phone: 847–290–9184
Fax: 847–290–9203
Email: ascrs@fascrs.org
Internet: www.fascrs.org

how to sell a diamond

Anus and Rectum

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Bleeding in the Digestive Tract
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Incluye información sobre las causas de la hemorragia en el tracto digestivo y cómo se reconoce, diagnostica y trata una hemorragia.
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Colonoscopy
Provides general information about colonoscopy. Describes the purpose of the test, how patients can prepare for it, and what patients can expect during and after the procedure.
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Constipation
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Ofrece información general sobre los órganos del sistema digestivo, la digestión y la absorción de nutrientes. Incluye un listado de lecturas adicionales.
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Explains the causes, diagnosis, treatment, and emotional considerations of fecal incontinence, commonly known as bowel control problems. This fact sheet includes information about eating, diet, and nutrition and reviews fecal incontinence in children.
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Provides general information about the lower gastrointestinal (GI) x-ray series. Describes the purpose of the test, how patients can prepare for it, and what patients can expect during and after the procedure.
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Proporciona información general sobre las radiografías del tránsito gastrointestinal inferior. Describe el propósito de la prueba, como los pacientes se pueden preparar para ella y que pueden esperar los pacientes durante y después del procedimiento.
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hemorrhoids treatment cure hemorrhoids symptoms

What are hemorrhoids?

Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum. The rectum is the last part of the large intestine leading to the anus. The anus is the opening at the end of the digestive tract where bowel contents leave the body.
External hemorrhoids are located under the skin around the anus. Internal hemorrhoids develop in the lower rectum. Internal hemorrhoids may protrude, or prolapse, through the anus. Most prolapsed hemorrhoids shrink back inside the rectum on their own. Severely prolapsed hemorrhoids may protrude permanently and require treatment.
 hemorrhoid and an external hemorrhoid labeled.
Hemorrhoids

What are the symptoms of hemorrhoids?

The most common symptom of internal hemorrhoids is bright red blood on stool, on toilet paper, or in the toilet bowl after a bowel movement. Internal hemorrhoids that are not prolapsed are usually not painful. Prolapsed hemorrhoids often cause pain, discomfort, and anal itching.
Blood clots may form in external hemorrhoids. A blood clot in a vein is called a thrombosis. Thrombosed external hemorrhoids cause bleeding, painful swelling, or a hard lump around the anus. When the blood clot dissolves, extra skin is left behind. This skin can become irritated or itch.
Excessive straining, rubbing, or cleaning around the anus may make symptoms, such as itching and irritation, worse.
Hemorrhoids are not dangerous or life threatening. Symptoms usually go away within a few days, and some people with hemorrhoids never have symptoms.

How common are hemorrhoids?

About 75 percent of people will have hemorrhoids at some point in their lives.1 Hemorrhoids are most common among adults ages 45 to 65.2 Hemorrhoids are also common in pregnant women.
1Baker H. Hemorrhoids. In: Longe JL, ed. Gale Encyclopedia of Medicine. 3rd ed. Detroit: Gale; 2006: 1766–1769.
2Chong PS, Bartolo DCC. Hemorrhoids and fissure in ano. Gastroenterology Clinics of North America. 2008;37:627–644.

What causes hemorrhoids?

Swelling in the anal or rectal veins causes hemorrhoids. Several factors may cause this swelling, including
  • chronic constipation or diarrhea

  • straining during bowel movements

  • sitting on the toilet for long periods of time

  • a lack of fiber in the diet
Another cause of hemorrhoids is the weakening of the connective tissue in the rectum and anus that occurs with age.
Pregnancy can cause hemorrhoids by increasing pressure in the abdomen, which may enlarge the veins in the lower rectum and anus. For most women, hemorrhoids caused by pregnancy disappear after childbirth.

How are hemorrhoids diagnosed?

The doctor will examine the anus and rectum to determine whether a person has hemorrhoids. Hemorrhoid symptoms are similar to the symptoms of other anorectal problems, such as fissures, abscesses, warts, and polyps.
The doctor will perform a physical exam to look for visible hemorrhoids. A digital rectal exam with a gloved, lubricated finger and an anoscope—a hollow, lighted tube—may be performed to view the rectum.
A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool. Bleeding may be a symptom of other digestive diseases, including colorectal cancer.
Additional exams may be done to rule out other causes of bleeding, especially in people age 40 or older:
  • Colonoscopy. A flexible, lighted tube called a colonoscope is inserted through the anus, the rectum, and the upper part of the large intestine, called the colon. The colonoscope transmits images of the inside of the rectum and the entire colon.

  • Sigmoidoscopy. This procedure is similar to colonoscopy, but it uses a shorter tube called a sigmoidoscope and transmits images of the rectum and the sigmoid colon, the lower portion of the colon that empties into the rectum.

  • Barium enema x ray. A contrast material called barium is inserted into the colon to make the colon more visible in x-ray pictures.

How are hemorrhoids treated?

At-home Treatments

Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms. Eating a high-fiber diet can make stools softer and easier to pass, reducing the pressure on hemorrhoids caused by straining.
Fiber is a substance found in plants. The human body cannot digest fiber, but fiber helps improve digestion and prevent constipation. Good sources of dietary fiber are fruits, vegetables, and whole grains. On average, Americans eat about 15 grams of fiber each day.3 The American Dietetic Association recommends 25 grams of fiber per day for women and 38 grams of fiber per day for men.3
Doctors may also suggest taking a bulk stool softener or a fiber supplement such as psyllium (Metamucil) or methylcellulose (Citrucel).
Other changes that may help relieve hemorrhoid symptoms include
  • drinking six to eight 8-ounce glasses of water or other nonalcoholic fluids each day

  • sitting in a tub of warm water for 10 minutes several times a day

  • exercising to prevent constipation

  • not straining during bowel movements
Over-the-counter creams and suppositories may temporarily relieve the pain and itching of hemorrhoids. These treatments should only be used for a short time because long-term use can damage the skin.

Medical Treatment

If at-home treatments do not relieve symptoms, medical treatments may be needed. Outpatient treatments can be performed in a doctor’s office or a hospital. Outpatient treatments for internal hemorrhoids include the following:
  • Rubber band ligation. The doctor places a special rubber band around the base of the hemorrhoid. The band cuts off circulation, causing the hemorrhoid to shrink. This procedure should be performed only by a doctor.

  • Sclerotherapy. The doctor injects a chemical solution into the blood vessel to shrink the hemorrhoid.

  • Infrared coagulation. The doctor uses heat to shrink the hemorrhoid tissue.
Large external hemorrhoids or internal hemorrhoids that do not respond to other treatments can be surgically removed.
3Slavin JL. Position statement of the American Dietetic Association: health implications of dietary fiber. Journal of the American Dietetic Association. 2008;108(10):1716–1731.

What foods have fiber?

Examples of foods that have fiber include
Breads, cereals, and beansFiber
1/2 cup of navy beans 9.5 grams
1/2 cup of kidney beans 8.2 grams
1/2 cup of black beans 7.5 grams
 box of cereal.
Whole-grain cereal, cold
1/2 cup of All-Bran9.6 grams
3/4 cup of Total2.4 grams
3/4 cup of Post Bran Flakes5.3 grams
1 packet of whole-grain cereal, hot3.0 grams
(oatmeal, Wheatena)
1 whole-wheat English muffin4.4 grams
 apple.
Fruits
1 medium apple, with skin3.3 grams
1 medium pear, with skin4.3 grams
1/2 cup of raspberries4.0 grams
1/2 cup of stewed prunes3.8 grams
 of a 1/2 cup of peas.
Vegetables
1/2 cup of winter squash2.9 grams
1 medium sweet potato with skin4.8 grams
1/2 cup of green peas4.4 grams
1 medium potato with skin3.8 grams
1/2 cup of mixed vegetables4.0 grams
1 cup of cauliflower2.5 grams
1/2 cup of spinach3.5 grams
1/2 cup of turnip greens2.5 grams
Drawing of a baked potato.

Source: U.S. Department of Agriculture and U.S. Department of Health and Human Services, Dietary Guidelines for Americans, 2005.

Points to Remember

  • Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum.

  • Hemorrhoids are not dangerous or life threatening, and symptoms usually go away within a few days.

  • A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool.

  • Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms.

  • If at-home treatments do not relieve symptoms, medical treatments may be needed.

Hope through Research

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) sponsors research to improve treatment for people with digestive disorders, including hemorrhoids and constipation. Researchers are studying new drugs and surgical procedures to treat or prevent hemorrhoids.
Participants in clinical trials can play a more active role in their own health care, gain access to new research treatments before they are widely available, and help others by contributing to medical research. For information about current studies, visit www.ClinicalTrials.gov.

For More Information

American College of Gastroenterology
P.O. Box 342260
Bethesda, MD 20827–2260
Phone: 301–263–9000
Email: info@acg.gi.org
Internet: www.acg.gi.org leaving site icon
American Gastroenterological Association
4930 Del Ray Avenue
Bethesda, MD 20814
Phone: 301–654–2055
Fax: 301–654–5920
Email: member@gastro.org
Internet: www.gastro.org leaving site icon
American Society of Colon and Rectal Surgeons
85 West Algonquin Road, Suite 550
Arlington Heights, IL 60005
Phone: 847–290–9184
Fax: 847–290–9203
Email: ascrs@fascrs.org
Internet: www.fascrs.org leaving site icon

Alagille Syndrome life expectancy pictures

  • What is Alagille syndrome?
  • What causes Alagille syndrome?
  • What are the symptoms of Alagille syndrome?
  • How is Alagille syndrome diagnosed?
  • How is Alagille syndrome treated?
  • What is the long-term outlook for people with Alagille syndrome?
  • Points to Remember
  • Hope through Research
  • For More Information

What is Alagille syndrome?

Alagille syndrome is a genetic condition in which a person has fewer than the normal number of small bile ducts inside the liver. Bile ducts, also called hepatic ducts, are tubes that carry bile from the liver cells to the gallbladder and eventually drain into the small intestine. Bile is a liquid produced in the liver that serves two main functions: carrying toxins and waste products out of the body and helping the digestion of fats and the fat-soluble vitamins A, D, E, and K. The decreased number of hepatic ducts causes bile to build up in the liver, leading to liver damage. Eventually the liver may stop working and a liver transplant is necessary.
s, liver, gallbladder, duodenum, common bile duct, pancreatic duct, cystic duct, and hepatic ducts labeled.
Normal liver and biliary system.
Alagille syndrome is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. The syndrome occurs in about one in every 70,000 births1 and is equally common in boys and girls. The symptoms of Alagille syndrome are usually seen in the first 2 years of life.
1Kamath BM, Krantz ID, Spinner NB. Alagille Syndrome. In: Pagon RA, ed. GeneReviews. Seattle (WA): University of Washington; 1993–2008. http://www.genetests.org leaving site icon. Accessed April 10, 2008.

What causes Alagille syndrome?

Alagille syndrome is sometimes an autosomal dominant disorder, meaning a person inherits it from one parent who has the disorder. In other cases, a gene mutation develops spontaneously, meaning neither parent carries a copy of the mutated gene. A child who has a parent with Alagille syndrome has a 50 percent chance of developing the disorder. Most people with Alagille syndrome have a mutation, or defect, in the Jagged1 (JAG1) gene. Mutations in the NOTCH2 gene are seen in less than 1 percent of people with Alagille syndrome.

What are the symptoms of Alagille syndrome?

The symptoms of Alagille syndrome and their severity vary, even among people in the same family.

Liver Symptoms

Infants with Alagille syndrome may have symptoms of liver disease and poor bile drainage from the liver in the first few weeks of life. These symptoms can also occur in children and adults with Alagille syndrome.
Jaundice. Bilirubin is the pigment that gives bile its reddish-yellow color. Jaundice occurs when the bilirubin content in the blood rises, causing yellowing of the skin and whites of the eyes. High levels of bilirubin in the blood can darken the urine, while stools may become pale, gray, or white from a lack of bilirubin in the intestines.
Many healthy newborns have mild jaundice due to immaturity of the liver. This type of jaundice disappears by the second or third week of life, whereas the jaundice of Alagille syndrome remains. Infants with jaundice that persists should be checked by a doctor.
Pruritus. The buildup of bilirubin in the blood may cause itching, also called pruritus. Pruritus usually starts after 3 months of age and can be severe.
Malabsorption and growth problems. People with Alagille syndrome may have diarrhea because of malabsorption, a condition in which the bowel does not properly absorb fats and fat-soluble vitamins. Malabsorption occurs because bile is necessary for their digestion. Malabsorption can lead to failure to thrive in infants and poor growth and delayed puberty in older children. People with Alagille syndrome and malabsorption may develop bone fractures, eye problems, blood-clotting problems, and learning delays.
Xanthomas. Xanthomas are fatty deposits that appear as yellow bumps on the skin. They are caused by abnormally high cholesterol levels in the blood, which is common in people with liver disease. Xanthomas are found on the abdomen, knees, elbows, hands, and around the eyes and are harmless.

Unique Symptoms

Alagille syndrome can affect other parts of the body in ways that may help doctors distinguish it from other liver conditions.
Heart. A heart murmur is the most common sign of Alagille syndrome other than liver disease. Most people with Alagille syndrome have a narrowing of the pulmonary arteries, which carry blood from the heart to the lungs. This narrowing causes a murmur that can be heard with a stethoscope, but usually it does not cause problems. A small number of people with Alagille syndrome have more serious heart conditions involving problems with the walls or the valves in the heart. The more serious conditions may require medications and corrective surgery.
Face. Many children with Alagille syndrome have deep-set eyes; a straight nose; a small, pointed chin; and a prominent, wide forehead. These features are not usually recognized until after infancy. The face typically changes with age, and by adulthood the chin is more prominent.
Eyes. Posterior embryotoxon is a condition in which an opaque ring is seen in the cornea, the transparent covering of the eyeball. A specialist performs an eye examination, called the slit lamp test, to look for the condition. The abnormality is common in people with Alagille syndrome and usually does not affect vision.
Skeleton. The shape of the bones of the spine may look abnormal on an x ray, but this abnormality rarely causes spine problems.
Kidneys. A wide range of kidney diseases can occur in Alagille syndrome. Some people have small kidneys or cysts in the kidneys. The kidneys can also have decreased function.
Spleen. The spleen is a small abdominal organ that cleans blood and protects against infection. Blood flow from the spleen drains directly into the liver. When liver disease is advanced, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may enlarge in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury.
Blood vessels. People with Alagille syndrome may have abnormalities of the carotid arteries—the blood vessels in the head and neck. This serious complication can lead to internal bleeding or stroke. If a person with Alagille syndrome suffers a head injury, prompt evaluation and magnetic resonance imaging (MRI) or a computerized tomography (CT) scan of the brain are needed to check for problems. Alagille syndrome can also cause narrowing or bulging of other blood vessels in the body.

How is Alagille syndrome diagnosed?

Because the symptoms of Alagille syndrome vary and because the syndrome is so rare, the disorder can be difficult to diagnose. The doctor will perform a thorough physical examination to look for clinical symptoms of the disorder. If Alagille syndrome is suspected, the doctor will order one or more of the following tests and examinations:
  • blood tests to check liver function and nutritional status
  • an abdominal ultrasound to look for liver enlargement and to rule out other conditions
  • a liver biopsy to check for a decreased number of hepatic ducts
  • a cardiology examination to check for heart problems
  • an eye examination to check for posterior embryotoxon
  • an x ray of the spine to look for abnormalities
  • examinations of the blood vessels and kidneys to check for abnormalities
To make a diagnosis of Alagille syndrome, a positive liver biopsy and the presence of three of the following symptoms are usually required:
  • liver symptoms
  • heart abnormalities or murmurs
  • skeletal abnormalities
  • posterior embryotoxon
  • facial features typical of Alagille syndrome
The doctor may also have a blood sample tested to look for the JAG1 gene mutation. The gene mutation can be identified in 95 percent of people with a diagnosis of Alagille syndrome based on signs and symptoms.2 A person can also be diagnosed with Alagille syndrome if the JAG1 gene mutation alone is present—even when no major symptoms of the disorder are evident.
The doctor may refer a person suspected of having Alagille syndrome to a geneticist—a physician who specializes in genetic disorders—to review the findings and assist with diagnosis. The geneticist and a genetic counselor meet with family members to review the family medical history and provide information. Once a person is diagnosed with Alagille syndrome, the parents may be tested for the JAG1 gene mutation. Siblings and other family members may also be tested. The specialists discuss the likelihood that family members and offspring will have the mutation. Prenatal testing is available at specialized centers.
2Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez P, Piccoli DA, Krantz ID, Spinner NB. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Human Mutation. 2006;27(5):436–443.

How is Alagille syndrome treated?

Treatment for Alagille syndrome is aimed at increasing the flow of bile from the liver, promoting growth and development, and making the person as comfortable as possible. Ursodiol (Actigall, Urso) is the only drug approved by the U.S. Food and Drug Administration to increase bile flow. Other treatments address specific symptoms of the disease.
Pruritus. Itching may improve when the flow of bile from the liver is increased. Medications such as cholestyramine (Questran, Prevalite), rifampin (Rifadin), naltrexone (ReVia, Depade), or antihistamines may be prescribed to relieve pruritus. Hydrating the skin with moisturizers and keeping fingernails trimmed to prevent skin damage from scratching are important.
If severe pruritus does not improve with medication, a procedure called partial external biliary diversion (PEBD) may provide relief from itching. PEBD involves surgery to connect one end of the small intestine to the gallbladder and the other end to an opening in the abdomen—called a stoma—through which bile leaves the body and is collected in a pouch.
A liver transplant may be necessary for a person with liver failure and severe pruritus that does not improve with medication or PEBD.
Malabsorption and growth problems. Infants with Alagille syndrome are given a special formula that allows the absorption of much-needed fat by the small intestine. Infants, children, and adults can benefit from a high-calorie diet, calcium, and vitamins A, D, E, and K. If oral doses of vitamins are not well tolerated, a health care provider may need to give the person injections for a period of time. A child may receive additional calories through a tiny tube that is passed through the nose into the stomach. If extra calories are required for a long time, a tube, called a gastrostomy tube, may be placed directly into the stomach through a small opening made in the abdomen. The child’s growth may improve if nutrition status improves and the flow of bile from the liver increases.
Xanthomas. These fatty deposits typically worsen over the first few years of life and then improve over time, or they may eventually disappear in response to PEBD or the medications used to increase bile flow.
Liver failure. In some cases, Alagille syndrome will progress to end-stage liver failure and require a liver transplant. A liver transplant is when the diseased liver is removed and replaced with a healthy one from an organ donor.
The health care team carefully considers the risks and benefits of a transplant and discusses them with the patient and family. People with Alagille syndrome and heart problems may not be candidates for a transplant because they could be at high risk for complications during and after the procedure.

What is the long-term outlook for people with Alagille syndrome?

The outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems and the early correction of malabsorption. Predicting who will experience improved bile flow and who will progress to end-stage liver failure is difficult. Fifteen percent of people with Alagille syndrome will eventually require a liver transplant.
Survival rates for people receiving liver transplants have improved over the past several years because of newer drugs that suppress the immune system and keep it from attacking and damaging the new liver.
Research studies report that 75 percent of children diagnosed with Alagille syndrome live to at least 20 years of age.3 Because of improvements in liver and heart therapies, this survival rate is increasing. Many adults with Alagille syndrome who improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by liver failure, heart problems, and blood vessel abnormalities.
3Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology. 1999;29(3):822–829.

Points to Remember

  • Alagille syndrome is a genetic disorder in which a person has fewer than the normal number of bile ducts in the liver. The symptoms of Alagille syndrome are usually seen in the first 2 years of life.
  • Alagille syndrome is a complex disorder that can affect the liver and other parts of the body such as the heart, kidneys, blood vessels, eyes, face, and skeleton.
  • Alagille syndrome is an autosomal dominant disorder, which means it can be inherited from one parent who has the disorder.
  • Alagille syndrome is most often caused by a mutation, or defect, in the Jagged1 (JAG1) gene.
  • Infants with Alagille syndrome may have symptoms of poor bile drainage from the liver in the first few weeks of life.
  • Alagille syndrome can affect other parts of the body in ways that may help doctors distinguish it from other liver conditions.
  • Because the symptoms of Alagille syndrome vary and because the syndrome is so rare, the disorder can be difficult to diagnose. The doctor may use the following to make a diagnosis: evaluation of the symptoms of Alagille syndrome, liver function tests, a liver biopsy, a blood test to look for a JAG1 gene mutation, and a genetic workup.
  • Treatment for Alagille syndrome is aimed at increasing the flow of bile from the liver, promoting growth and development, and making the person as comfortable as possible.
  • In some cases, Alagille syndrome will progress to end-stage liver failure and require a liver transplant.
  • Research studies report that 75 percent of children with Alagille syndrome live to at least 20 years of age. Deaths in people with Alagille syndrome are most often caused by liver failure, heart problems, and blood vessel abnormalities.

Hope through Research

The National Institute of Diabetes and Digestive and Kidney Diseases' Division of Digestive Diseases and Nutrition supports basic and clinical research into liver diseases, including Alagille syndrome. Studies are under way to
  • explain the many ways Alagille syndrome presents in people
  • focus on the interaction between JAG1 and other genes and on identifying new genes that might cause Alagille syndrome
  • translate findings about bile formation and secretion into treatments to reverse or cure Alagille syndrome
  • target the exact cause of pruritus and develop a curative treatment
  • develop a gene therapy for liver disease in newborns that could be used to treat Alagille syndrome
Participants in clinical trials can play a more active role in their own health care, gain access to new research treatments before they are widely available, and help others by contributing to medical research. For information about current studies, visit www.ClinicalTrials.gov.

For More Information

Alagille Syndrome Alliance
10500 SW Starr Drive
Tualatin, OR 97062
Phone: 503–885–0455
Email: alagille@alagille.org
Internet: www.alagille.org leaving site icon
American Liver Foundation
75 Maiden Lane, Suite 603
New York, NY 10038–4810
Phone: 1–800–GO–LIVER (465–4837) or 212–668–1000
Fax: 212–483–8179
Email: info@liverfoundation.org
Internet: www.liverfoundation.org leaving site icon
Children's Liver Association for Support Services
25379 Wayne Mills Place, Suite 143
Valencia, CA 91355
Phone: 1–877–679–8256
Fax: 661–263–9099
Email: info@classkids.org
Internet: www.classkids.org leaving site icon
United Network for Organ Sharing
P.O. Box 2484
Richmond, VA 23218
Phone: 1–888–894–6361 or 804–782–4800
Fax: 804–782–4817
Internet: www.unos.org leaving site icon