Doctor insights on:
How To Treat 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 moreSee 1 more doctor answer
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, ...Read more
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
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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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
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 moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
Somewhat: Hi. Standard treatments for PCOS include BCPs with a low-androgenic progestin, metformin, and spironolactone in various combinations. PCOS increases type 2 diabetes risk, and metformin helps with that too. When fertility is desired, in addition to stopping BCPs, an agent such as clomiphene may be needed as well. As the underlying cause(s) is/are incompletely understood, we still have a way to go. ...Read more
NMS: Neuroleptic malignant syndrome is a life-threatening neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs (ex: haldol, (haloperidol) droperidol). NMS typically consists of muscle rigidity, fever, autonomic instability, and cognitive changes such as delirium, and is associated with elevated CPK. ...Read more
I'm 22 and was told I may have polycystic ovary syndrome (PCOS)
-- how will that effect me and is it reversible or treatable for life?
PCOS: If you have PCOS it cannot be eliminated or cured. Overweight women with PCOS can improve cycles and symptoms with weight loss, but many with PCOS are not overweight. Medicines, including but not limited to birth control pills can help, for some women there is a surgical procedure that can be used. ...Read more