Anus and Rectum

		Anatomic Problems of the Lower GI Tract Provides a general overview of common anatomical problems of the lower GI tract. Describes how some problems develop during the fetal stage and others develop with age. Covers symptoms, diagnosis, and treatment for the different conditions. PDF Version (284 KB) *
		Bleeding in the Digestive Tract Includes information about the causes of bleeding in the digestive tract and how the bleeding is recognized, diagnosed, and treated. PDF Version (190 KB) *
		En Español Hemorragia en el tracto digestivo Incluye información sobre las causas de la hemorragia en el tracto digestivo y cómo se reconoce, diagnostica y trata una hemorragia. Versión PDF (164 KB) *
		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. PDF Version (141 KB) *
		En Español Colonoscopia Proporciona información general sobre la colonoscopia. 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. Versión PDF (331 KB) *
		Constipation Defines constipation and describes its development, diagnosis, and treatment. Also highlights some misconceptions about constipation. PDF Version (464 KB) *
		Constipation in Children Explains the causes, symptoms, diagnosis, and management of constipation in children. PDF Version (532 KB) *
		The Digestive System and How It Works Provides general information about the organs of the digestive system, the digestive process, and the absorption of nutrients. PDF Version (426 KB) *
		En Español El aparato digestivo y su funcionamiento Ofrece información general sobre los órganos del sistema digestivo, la digestión y la absorción de nutrientes. Incluye un listado de lecturas adicionales. Versión PDF (153 KB) *
		Fecal Incontinence 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. PDF Version (578 KB) *
		Flexible Sigmoidoscopy Provides general information about flexible sigmoidoscopy. Describes the purpose of the test, how patients can prepare for it, and what patients can expect during and after the procedure. PDF Version (347 KB) *
		En Español Sigmoidoscopia flexible Proporciona información general sobre la sigmoidoscopia flexible. 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. Versión PDF (186 KB) *
		Hemorrhoids Describes the symptoms, diagnosis, and medical and surgical treatments for this common disorder. PDF Version (298 KB) *
		Lower GI Series 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. PDF Version (152 KB) *
		En Español Tránsito gastrointestinal inferior 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. Versión PDF (113 KB) *
		Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis Describes the symptoms, diagnosis, and treatment of collagenous colitis and lymphocytic colitis. PDF Version (244 KB) *
		Proctitis Describes the causes, diagnosis, and treatment of proctitis. PDF Version (150 KB) *
		Ulcerative Colitis Outlines the symptoms, diagnostic procedures, and risks and benefits of several drugs and types of surgery to treat this disease. PDF Version (163 KB) *
		Virtual Colonoscopy Provides general information about virtual colonoscopy. Describes the purpose of the test, how patients can prepare for it, and what patients can expect during and after the procedure. PDF Version (123 KB) *
		En Español Colonoscopia virtual Proporciona información general sobre las radiografías del colonoscopia virtual. 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. Versión PDF (222 KB) *
		What I need to know about Bowel Control Defines bowel control problems, also called fecal incontinence, and describes how normal bowel control works. Discusses the causes, risk factors, diagnosis, and treatment. Provides tips for talking with the doctor and ways to cope with bowel control problems. PDF Version (968 KB) *
		En Español Lo que usted debe saber sobre el control intestinal Describe problemas de control intestinal, o incontinencia fecal, y sus causas, factores de riesgo, diagnóstico y tratamiento. Versión PDF (1,712 KB) *
		What I need to know about Constipation Defines constipation and includes steps for prevention, as well as a list of additional resources. PDF Version (2,240 KB) *
		En Español Lo que usted debe saber sobre el estreñimiento Define el estreñimiento e incluye una lista de medidas para su prevención, así como un listado de recursos adicionales. Versión PDF (595 KB) *
		What I need to know about Diarrhea Discusses the causes of diarrhea and the dangers of dehydration. Provides suggestions for easing the symptoms of diarrhea in adults and children. Offers strategies for avoiding traveler’s diarrhea. PDF Version (906 KB) *
		En Español Lo que usted debe saber sobre la diarrea Ofrece información sobre las causas de la diarrea y los riesgos de la deshidratación. Ofrece sugerencias para aliviar los síntomas de la diarrea en adultos y en niños. Presenta sugerencias para evitar la diajera del viajero. Versión PDF (1,352 KB) *
		What I need to know about Hirschsprung Disease Defines and explains the causes, symptoms, and treatment of Hirschsprung disease. Includes a pronunciation guide. PDF Version (465 KB) *

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.

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

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

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

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

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
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
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

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.

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 . 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
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
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
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