Rare Disease Show Episode 18: Understanding Alagille Syndrome with Dr Koutarapu Chandrakant
Written By : Dr. Nandita Mohan
Published On 2024-10-14 14:15 GMT | Update On 2024-10-15 09:22 GMT
Rare Disease Show Episode 17-- In today's show we will cover Alagille Syndrome.
Alagille syndrome is a rare genetic disorder caused by mutations in the JAG1 or NOTCH2 genes, affecting multiple organs, primarily the liver, heart, and skeletal system. It is characterized by bile duct paucity, leading to cholestasis, jaundice, severe itching, and fatty skin deposits.
Heart defects, such as pulmonary artery stenosis or Tetralogy of Fallot, are common, along with distinct facial features (broad forehead, pointed chin), butterfly-shaped vertebrae, and eye abnormalities like posterior embryotoxon.
Patients may experience delayed growth, developmental challenges, and kidney issues. Diagnosis involves genetic testing, liver biopsy, echocardiography, and eye exams. Treatment focuses on managing symptoms with medications to improve bile flow, fat-soluble vitamins, surgical interventions for heart defects, and, in severe cases, liver transplantation. While the severity varies, early diagnosis and a multidisciplinary approach can enhance outcomes and quality of life.
In this episode, Dr Koutarapu Chandrakant, a Consultant Gastroenterologist at Fortis Hospital, CG Road shares his insights by addressing questions asked by the Medical Dialogues team-
A. Understanding Alagille Syndrome:
1. Can you explain what Alagille Syndrome is and why is it a rare disease?
2. What are the key genetic causes of Alagille Syndrome, and how is it inherited?
B. Symptoms and Diagnosis:
3. What are the most common symptoms of Alagille Syndrome, particularly in the gastrointestinal and hepatic systems?
4. What diagnostic tests are used to confirm Alagille Syndrome, and how early can it be detected?
C. Gastrointestinal and Liver Impact:
5. How does Alagille Syndrome typically affect the liver, and what is the risk of developing chronic liver conditions like cirrhosis?
6. How does malabsorption, particularly of fat-soluble vitamins, affect patients with Alagille Syndrome, and what dietary adjustments are recommended?
D. Management and Treatment:
7. What are the current treatment options for managing the liver and gastrointestinal symptoms of Alagille Syndrome?
8. In severe cases, liver transplant may be necessary—when is this typically considered for Alagille Syndrome patients?
9. What role do medications like ursodeoxycholic acid (UDCA) play in treating the cholestasis (bile flow blockage) associated with this syndrome?
E. Future Research and Advancements:
10. Are there any promising advancements in the treatment of Alagille Syndrome, particularly in liver or gene therapy?
11. What ongoing research or clinical trials are currently being conducted that might offer new hope for patients with Alagille Syndrome?
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