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
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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.
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