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Progressive Familial Intrahepatic Cholestasis

Study identifies predictors of long-term outcomes in rare liver disease

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In patients with progressive familial intrahepatic cholestasis type 3 (PFIC3), specific genetic variations and their response to ursodeoxycholic acid (UDCA) therapy are critical factors that predict long-term outcomes, according to a study. Patients with ≥1 missense variation, positive canalicular expression of MDR3, and biliary phospholipid levels over 6.9% of total biliary lipids are more likely to respond positively to ursodeoxycholic acid (UDCA) therapy and experience prolonged native liver survival.

The study, with a median follow-up age of 19.5 years, found that early onset of symptoms was prevalent, with 20 of the 38 patients included in this study presenting signs before their first year. Of the 31 patients who received UDCA therapy, 20 had notable improvements in serum liver test results.

The authors noted that 27 patients developed cirrhosis, with a median age of onset at 8.1 years. Among this group, 18 underwent liver transplants at a median age of 8.5 years. Those carrying ≥1 missense variation in their genotype exhibited positive canalicular MDR3 expression in the native liver and experienced prolonged native liver survival, with a median of 12.4 years.

In contrast, patients with severe genotypes lacking missense variations showed no detectable canalicular MDR3 expression. This group experienced earlier onset of symptoms and cirrhosis, leading all of them to undergo liver transplantation at a median age of 6.7 years. This subgroup also displayed resistance to UDCA treatment.

The study also highlighted a critical predictor of response to UDCA therapy. Patients with biliary phospholipid levels exceeding 6.9% of total biliary lipid levels were highly likely to respond positively to UDCA treatment. This positive response to UDCA, in turn, correlated with prolonged native liver survival.

Reference
Gonzales E, Gardin A, Almes M, et al. Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy. JHEP Rep. 2023;5(10):100844. doi: 10.1016/j.jhepr.2023.100844. PMID: 37701337; PMCID: PMC10494458.

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