Arteriohepatic dysplasia, also known as Alagille syndrome, is a rare genetic disorder that affects multiple body systems, particularly the liver and cardiovascular system. This condition is typically inherited in an autosomal dominant manner, meaning that a mutation in one copy of the responsible gene is sufficient to cause the disorder.
The primary characteristic feature of arteriohepatic dysplasia is the abnormal development of the liver's bile ducts. These ducts, which transport bile from the liver to the gallbladder and small intestine, become narrow, malformed, or even absent. Consequently, bile flow becomes obstructed, leading to liver damage and, in severe cases, cirrhosis.
Individuals with arteriohepatic dysplasia may also exhibit a variety of additional symptoms and complications. These can include heart defects, skeletal abnormalities such as butterfly-shaped vertebrae, distinctive facial features like a broad forehead and deep-set eyes, and eye abnormalities such as posterior embryotoxon (a white ring around the iris). Some affected individuals may also experience kidney problems, growth delays, and abnormalities in blood vessel structure.
Diagnosis of arteriohepatic dysplasia is typically based on the presence of several characteristic features and confirmed by genetic testing to identify mutations in the JAGGED1 or NOTCH2 genes. While there is currently no cure for this condition, treatment mainly focuses on managing specific symptoms and complications through medications, surgical interventions, and supportive care.
It is important for affected individuals to have regular follow-ups with healthcare professionals specializing in liver, cardiac, and other relevant specialties, to monitor disease progression and provide appropriate management strategies.
