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Doctor insights on: Alagille Syndrome

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Dr. Lawrence Prince
75 Doctors shared insights

Alagille Syndrome (Overview)

Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number


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What exactly is alagille syndrome?

What exactly is alagille syndrome?

Genetic abnormality: Genetic abnormality, autosomal dominant, has multi-organ problems; affects liver/bile ducts, pulmonic heart valve, kidney, eye, bone, neurologic/mental problems, characteristic facial features.
Variable intensity of findings; can be dx'd infancy, milder cases as adult. May need meds, vits, heart, liver surgery, even transplant. Variety of nutritional issues, vits a, d, e, k, zinc, fats, cholesterol. ...Read more

Dr. Lawrence Prince
75 Doctors shared insights

Alagille Syndrome (Overview)

Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number


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What are the symptoms of alagille syndrome?

What are the symptoms of alagille syndrome?

Jaundice: Alagille syndrome is an autosomal dominant inherited rare condition that primarily affects the liver. Symptoms can be mild or so severe as to require liver transplantation. Jaundice and skin itching are the primary symptoms. ...Read more

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Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check your cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
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Need some more info. About the causes and signs of alagille syndrome please help!?

Need some more info. About the causes and signs of alagille syndrome please help!?

Genetic disease: Alagille syndrome is a genetic disease which most importantly affects the liver. Significant congenital heart disease also is common. Over 90% of affected patients have a mutation or deletion in the jag1 gene. The liver disease is characterized by abnormal bile ducts. Each individual is affected differently, from mild effects to severe liver failure requiring transplantation. ...Read more

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What are the tests for alagille syndrome?

What are the tests for alagille syndrome?

Liver biopsy: Liver biopsy is probably the most effective means of diagnosis. Many people with alagille syndrome do have characteristic facial features and some unusual x-ray findings but not in all cases. ...Read more

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Managing Carpal Tunnel Syndrome (Checklist)

Wear a wrist brace at night
daily
Take pain medications as directed
Once
Use proper posture when performing tasks
Once
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What is the treatment for alagille syndrome?

Supportive care: There is no known cure for this disease. Treatment is directed toward improving heart effects and diminishing the effects of a failing liver. ...Read more

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What exactly is alagille syndrome?

Genetic abnormality: Genetic abnormality, autosomal dominant, has multi-organ problems; affects liver/bile ducts, pulmonic heart valve, kidney, eye, bone, neurologic/mental problems, characteristic facial features.
Variable intensity of findings; can be dx'd infancy, milder cases as adult. May need meds, vits, heart, liver surgery, even transplant. Variety of nutritional issues, vits a, d, e, k, zinc, fats, cholesterol. ...Read more

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Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Practice stress management and mindfulness
2x day
Do not be afraid to ask for feedback
3x day
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What are the tests for alagille syndrome?

Liver biopsy: Liver biopsy is probably the most effective means of diagnosis. Many people with alagille syndrome do have characteristic facial features and some unusual x-ray findings but not in all cases. ...Read more

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What sort of problem is alagille syndrome?

Alagille syndrome: Alagille syndrome is a genetic disorder with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. In 1975, alagille et al described several patients with hypoplasia of the hepatic ducts. Typical facial features of alagille syndrome include broad forehead, deep-set eyes and pointed chin. More at: http://emedicine. Medscape. Com/article/926678-overview. ...Read more

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Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
once
Monitor your weight and review your diet daily
daily
Blend exercises that make sense into your daily routine
daily
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Alagille syndrome info needed. What is it?

Alagille syndrome info needed. What is it?

Alagille syndrome: This is a genetic disorder affecting kidney, liver, heart and other systems. Usually seen in infancy and very early childhood. Face is very similar - deep set eyes, prominent broad forehead, pointed chin. Seeing that it is autosomal dominant there is no cure. Treatment is aimed at dealing with the abnormalities in the various systems affected. ...Read more

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What are the symptoms of alagille syndrome?

Jaundice: Alagille syndrome is an autosomal dominant inherited rare condition that primarily affects the liver. Symptoms can be mild or so severe as to require liver transplantation. Jaundice and skin itching are the primary symptoms. ...Read more

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Living with Down Syndrome (Checklist)

Enroll in an early intervention program
Once
Get help from local and national support groups
Once
Consider getting help from mental health professionals
Once
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What is the definition or description of: Alagille syndrome?

Liver and more: Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number ...Read more

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Living with Irritable Bowel Syndrome (Checklist)

Try to notice and avoid precipitating factors
Once
Start a trial of increased dietary fiber
Once
See your primary care physician or gastroenterologist if symptoms persist
Once
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Need some more info. About the causes and signs of alagille syndrome please help!?

Genetic disease: Alagille syndrome is a genetic disease which most importantly affects the liver. Significant congenital heart disease also is common. Over 90% of affected patients have a mutation or deletion in the jag1 gene. The liver disease is characterized by abnormal bile ducts. Each individual is affected differently, from mild effects to severe liver failure requiring transplantation. ...Read more

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What type of mutation causes alagille syndrome?

What type of mutation causes alagille syndrome?

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs. ...Read more

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Living with Chronic Fatigue Syndrome (CFIDS) (Checklist)

Don't overdo it when you have more energy than usual
Once
Try slow and steady movement like qigong, tai chi, or yoga
Once
Consider natural medical alternatives such as dipsacus
Once
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Is their a medicine called uuestrion for alagille syndrome?

Is their a medicine called uuestrion for alagille syndrome?

Questran (cholestyramine): Questran (cholestyramine) is a medication that is used to reduce serum cholesterol. Alagille syndrome is often marked by high serum cholesterol.. ...Read more

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What is the treatment for alagille syndrome?

Supportive care: There is no known cure for this disease. Treatment is directed toward improving heart effects and diminishing the effects of a failing liver. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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Is alagille syndrome autosomal dominant? Can it be detected in utero?

Yes: It's quite variable in its expression. You should be able to get a test before birth. ...Read more

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My daughter has alagille syndrome and is covered in xanthomas. Any tips on pretreating to try to minimize scarring from them?

My daughter has alagille syndrome and is covered in xanthomas. Any tips on pretreating to try to minimize scarring from them?

Xanthomas: The xanthomas are fatty deposits in the skin and a result of the abnormally high levels of cholesterol in the blood, which occurs due to the disruptions in liver functioning. In essence the liver (bile duct outlets) are the main issue. As a father of two girls, my heart and blessing go to you and your daughter.

Kindest regards,

james ridgway, md
www. Larrabeecenter. Com. ...Read more

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My daughter is 2yrs old and has alagille syndrome she is severely underwieght and waiting for a new liver to be transplanted any tips for foods to get her beefed up before transplant?

My daughter is 2yrs old and has alagille syndrome she is severely underwieght and waiting for a new liver to be transplanted any tips for foods to get her beefed up before transplant?

See her doctor: Symptoms and concerns like these mandate a thorough evaluation by her doctor. Only after such an evaluation, which may include labs and radiographic examinations, can he/she let you know what's going on and how best to help her. ...Read more

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Is it possible that alagilles syndrome be mistook portal pulmonary hypertension?

Is it possible that alagilles syndrome be mistook portal pulmonary hypertension?

Yes: I have not seen one but literature says that it can indeed cause portal hypertension due to the liver problem and blood return is impeded. The smaller pulmonary arteries can be deemed pulmonary hypertension unless left and right heart cath can be done to prove the pulmonary circulation is ok and only the larger artery involved, cath may be difficult due to the pressure and size of vessels. ...Read more

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What's little man syndrome?

What's little man syndrome?

Short man syndrome: Another name for the short or little man syndrome is a napoleon complex. Sometimes men with short stature may feel inferior and over-compensate for it. An example: a short man who aggressively drives the top of the line sports car- (is he compensating for feelings of inadequacy?). ...Read more

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