PFIC is a rare genetic disorder that causes progressive, life-threatening liver disease.
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People diagnosed with PFIC have impaired bile flow, or cholestasis, caused by genetic mutations. The resulting bile build-up in liver cells causes liver disease and symptoms.
The most prominent and problematic ongoing manifestation of PFIC is pruritus, which often results in a severely diminished quality of life. In many cases, PFIC leads to cirrhosis and liver failure within the first 10 years of life, and nearly all children with PFIC will require treatment before age 30. There are no medicines currently approved for PFIC, only surgical options – including a procedure known as Partial External Biliary Diversion (PEBD) or liver transplantation. These options carry substantial risk of post-surgical complications, as well as psychological and social issues.
Three alternative gene defects have been identified that correlate to three separate PFIC subtypes known as types 1, 2 and 3.
Recently, TJP2 gene, NR1H4 gene or Myo5b gene mutations have been proposed to be causes of PFIC. In addition, some patients with PFIC do not have a mutation in any of the ATP8B1, ABCB11, ABCB4, TJP2, NR1H4 or Myo5b genes. In these cases, the cause of the condition is unknown.