Liver involvement in patients with erythropoietic protoporphyria

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Abstract

Background: In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi may result in liver disease. Clinically EPP related liver disease ranges from mildly elevated liver enzymes to cirrhosis and acute cholestatic hepatic failure. The prevalence of liver disease in EPP, and factors predicting the risk of developing liver disease, have not been defined in a large series of unselected EPP patients. Aim: To determine the prevalence of liver disease in EPP-patients. Methods: A single-center prospective unselected cohort study of 114 adult EPP patients, who underwent routine laboratory testing, abdominal ultrasonography and transient elastography to assess the presence of steatosis (controlled attenuation parameter,dB/m) and liver stiffness (kPa). Results: 114 adult EPP patients were included. Elevated liver enzymes were found in 6.2% of the patients. Liver steatosis was detected in 29.0%, and significant fibrosis as assessed with liver stiffness measurements was present in 9.6% of patients. BMI positively predicted CAP-values (p = 0.026); and protoporphyrin IX levels (p = 0.043) positively predicted liver stiffness. Conclusions: This study demonstrates a prevalence of hepatic steatosis and fibrosis in adult EPP-patients comparable to that found in the general population. Protoporphyrin IX levels correlate with increased liver stiffness in EPP.

Original languageEnglish
Pages (from-to)515-520
Number of pages6
JournalDigestive and Liver Disease
Volume54
Issue number4
DOIs
Publication statusPublished - Apr 2022

Bibliographical note

Funding Information:
Dr. Langendonk reports financial support from Clinuvel to cover expenses incurred for data entry for the European Medicines Agency directed afamelanotide registry. Dr Langendonk is also involved in industry-sponsored trials by Alnylam. Dr. Wilson reports travel fees from Clinuvel during the conduct of the study. No other disclosures were reported. None.

Funding Information:
Dr. Langendonk reports financial support from Clinuvel to cover expenses incurred for data entry for the European Medicines Agency directed afamelanotide registry. Dr Langendonk is also involved in industry-sponsored trials by Alnylam. Dr. Wilson reports travel fees from Clinuvel during the conduct of the study. No other disclosures were reported.

Publisher Copyright:
© 2021

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