Progressive Familial Intrahepatic Cholestasis (PFIC) Overview

Ron Cooper, President and CEO of Albireo, provides and overview of progressive familial intrahepatic cholestasis type (PFIC) is a rare genetic condition that affects the liver. PFIC is estimated to affect between one in every 50,000 to 100,000 children born worldwide and causes progressive, life-threatening liver disease.
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.
PFIC, type 1, which is sometimes referred to as “Byler disease,” is caused by impaired bile secretion due to mutations in the ATP8B1 gene, which codes for a protein that helps to maintain an appropriate balance of fats known as phospholipids in cell membranes in the bile ducts. An imbalance in these phospholipids is associated with cholestasis and elevated bile acids in the liver. Children affected by PFIC, type 1 usually develop cholestasis in the first months of life and, in the absence of surgical treatment, progress to cirrhosis and end-stage liver disease before the end of the first decade of life.
PFIC, type 2, which is sometimes referred to as “Byler syndrome,” is caused by impaired bile salt secretion due to mutations in the ABCB11 gene, which codes for a protein, known as the bile salt export pump, that moves bile acids out of the liver. Children with PFIC, type 2 often develop liver failure within the first few years of life and are at increased risk of developing a type of liver cancer known as hepatocellular carcinoma.
PFIC, type 3, which typically presents in the first years of childhood with progressive cholestasis, is caused by mutations in the ABCB4 gene, which codes for a transporter that moves phospholipids across cell membranes.
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.

[@sar4665]

My daughter is 12 and she has Pfic 3 ... she has liver cirrhosis but still her own liver works. She uses Ursofalk every day since 10,5 years now. I hope she will stand it all her live without using a new liver .... she is my Baby, Princess, Lovely - one .... 💖

[@lalaland1710]

Mine too he is 17

[@briannamitchell5412]

My baby girl is 8 years old and has PFIC 2. She takes rhifampin ursidol and 3 other medicines that are working well and we are about to take a new trial run of a new medication soon that has no negative side affect and pray it helps the itching

[@lildiabetus7620]

@@ewasa7061 Hey, I have type 1 pfic my name is dennis,I can help you out just let me know and I will try my best

[@lildiabetus7620]

@@ewasa7061 no i do not i take rifampin and ursodial i also take hydroxizine for the itchyness

[@lildiabetus7620]

@@ewasa7061 if she has a fever,and is not feeling good to her side or her liver take her to the hospital.

[@samahire9145]

Hi IAM brick patient my medicine is sem

[@lalaland1710]

My prayers

[@420crxcked9]

I have A Rare PFIc Liver Disease Ask Me Anything I Take 300mg of ursodial and i do take rifampin

[@420crxcked9]

CheckRare NP

[@lalaland1710]

How can you manage itching and school work plz my son is 17 his type is 3 same medication but no rifampin

[@mollymetz8606]

​@@lalaland1710I have type 1 PFIC, and I also take 300 MG of ursodial and 150 MG of rifampin. Although you should never diagnose yourself with a specific type of medication, rifampin may help - I would take with a specialist and look into it.

[@lalaland1710]

Stop using horrible, scary devastating it herts us as patients parents

[@mollymetz8606]

Although I understand why you say this, as someone with the disorder it is devastating and scary and awful. In my opinion, it should be described as such due to the horrible nature of the disease.