Teddy’s fur is scratched and her abdomen is swollen. Her eyes are tired and jaundiced. Her ability to learn and grow is suffering. Teddy has progressive familial intrahepatic cholestasis (PFIC); more specifically, she has PFIC2.
Like with every patient with chronic cholestatic liver disease, PFIC has impaired Teddy’s quality of life and robbed her of her childhood.1 Teddy shouldn’t have to bear it any longer.
That’s why Mirum is speaking up. We’re dedicated to raising awareness and addressing the impact cholestatic liver disease can have on patients like Teddy. In support of this commitment, we are doing our part to conduct research and help patients reclaim their childhoods.
Progressive familial intrahepatic cholestasis (PFIC) predominantly affects children, and symptoms of PFIC1 and PFIC2 generally appear by 3 months of age, with a tendency for earlier appearance in patients with PFIC2. Patients with PFIC3 sometimes do not present with symptoms until after 2 to 3 years.4
Patients with PFIC typically present with intrahepatic cholestasis in infancy or childhood, although exact clinical manifestation differs among PFIC subtypes and multiple symptoms may be reported at presentation.2,4
Cholestatic pruritus has been identified as the most debilitating symptom of PFIC.1 In fact, based on the Whitington scale, pruritus was reported to be “Often Severe” in 76% to 80% of patients (grade 3 or higher).4 This bothersome pruritus often leads to cutaneous mutilation, loss of sleep, irritability, poor attention, and impaired school performance in children with PFIC.1
PFIC is associated with a range of potentially fatal complications of liver disease, including portal hypertension, liver failure, cirrhosis, and hepatocellular carcinoma (PFIC2), as well as extrahepatic manifestations (PFIC1).4
Additional signs and symptoms in PFIC may include1,4:
Extrahepatic manifestations include1,4,7: