Deirdre Kelly, MD, FRCP, FRCPI, FRCPCH, Consultant Pediatric Hepatologist, Liver Unit, Birmingham Women’s and Children’s Hospital and University of Birmingham, discusses management options for patients with progressive familial intrahepatic cholestasis (PFIC).
PFIC is a rare genetic disorder that causes progressive, life-threatening liver disease due to an inability to properly remove bile acids from the liver. The most common manifestation of PFIC is pruritus, which often results in a severely diminished quality of life. In many cases, this disease leads to cirrhosis and liver failure within the first 10 years of life, and nearly all PFIC patients require treatment before the age of 40 years.
As Dr. Kelly explains, most children with liver disease receive ursodiol (or ursodeoxycholic acid), and medications to relieve itchiness such as cholestyramine or rifampicin. Currently, odevixibat (Bylvay) is the only drug that has been approved by the U.S Food and Drug Administration (FDA) for the treatment of pruritus in patients with PFIC. Prior to the development of odevixibat, nutrition was also a large management tool. Often this would include an increase in fat soluble vitamins (A, D, E, and K). For more severe cases of PFIC, surgery (partial external biliary diversion or liver transplantation) may be considered, though these options carry substantial risk of post-surgical complications, as well as psychological and social issues.
To learn more about PFIC and other rare metabolic diseases, visit checkrare.com/diseases/metabolic-disorders/
