The Challenges Faced by Those Affected by PFIC Highlighted on Rare Disease Day

According to a story from Financial Buzz, the biopharmaceutical company Albireo Pharma, Inc. issued a statement on Rare Disease Day which emphasized the company’s continued commitment to progressive familial intrahepatic cholestasis (PFIC) patients and their families, as well as others affected by rare liver diseases. Albireo is focused on developing bile acid modulators in order to treat cholestatic diseases, particularly in children. 

About Progressive Familial Intrahepatic Cholestasis (PFIC)

Progressive familial intrahepatic cholestasis (PFIC) is a group of hereditary diseases in which the flow of bile is affected. There are several different types of PFIC which are linked to different genetic mutations. These mutations generally cause a defect affecting biliary epithelial transporters. The symptoms of these diseases begin to appear in childhood, but some patients are not diagnosed until years later. These symptoms include lack of normal bile flow, cirrhosis, failure to thrive, jaundice, fat malabsorption, and severe itching. PFIC can eventually lead to complications such as osteopenia, a condition of lowered mineral density in bones. Treatment is generally supportive and symptomatic. Medications used to relieve symptoms include ursodeoxycholic acid, naloxone, and rifampin. Other approaches include certain surgical procedures and vitamin supplementation. If liver function begins to decline, a transplant may be necessary. PFIC patients are also at an elevated risk of hepatocellular carcinoma from an early age. To learn more about PFIC, click here.

New Treatments Needed

The PFIC patient community it just one of many rare diseases with severe unmet medical need. Without any available treatments that can modify the course of the disease, a liver transplant is almost always necessary if a patient is going to survive. Liver failure can begin within the first few years of life, often before age ten. It is clear that patients are in need of improved treatment options as a liver transplant is an operation that carries significant and life-threatening risks. 

To symbolize their commitment to patients with PFIC and other rare liver diseases, Albireo has provided and unrestricted grant for the American Liver Foundation to help spread awareness about PFIC. The company made similar grants to the Alagille Syndrome Alliance and PFIC Advocacy & Resource Network late last year as well.

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