Chris Peetz, President and CEO of Mirum Pharmaceuticals, discusses how patients with Alagille syndrome are typically diagnosed.
Alagille syndrome is a genetic disorder that can affect the liver, heart, skeleton, eyes, and kidneys. Liver damage caused by cholestasis is a major feature of the disease. Bile ducts may be narrow, malformed, or fewer in number. As a result, bile builds up in the liver and causes scarring. Signs and symptoms may include jaundice, poor weight gain and growth, and severe pruritus that generally presents in infancy or early childhood. Symptoms range from mild to severe, sometimes requiring transplantation. Fortunately, the FDA recently approved maralixibat (Livmarli) for the treatment of cholestatic pruritus in patients with Alagille syndrome one year of age and older.
As Mr. Peetz explains, Alagille syndrome is usually diagnosed by a pediatric hepatologist or pediatric gastroenterologist. Parents of Alagille syndrome patients often note that their child is fussy but the first noticeable symptom to indicate a liver problem is usually prutitus, usually appearing around 5-6 months of age. Parents will then typically get in touch with a pediatric hepatologist or gastroenterologist. Blood and genetic tests will be performed to confirm Alagille syndrome.
To learn more about Alagille syndrome and other rare metabolic diseases, visit checkrare.com/diseases/metabolic-disorders/