Abstract
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. To determine the prevalence of liver disease in EPP-patients. 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). 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. 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.
Highlights
Erythropoietic protoporphyria (EPP, OMIM 177,000), is a rare inherited disorder of heme biosynthesis
Since protoporphyrin IX (PPIX) levels were positively associated with increased Liver stiffness measurements (LSM), we explored possible determinants of PPIX level
Since protoporphyrin levels were identified to be positively associated with liver stiffness we looked into more detail in predicting factors of PPIX levels, and found associations with age, GGT, hemoglobin and platelet count
Summary
Erythropoietic protoporphyria (EPP, OMIM 177,000), is a rare inherited disorder of heme biosynthesis. EPP is caused by autosomal recessive mutations in the FECH gene, which result in decreased activity of ferrochelatase, or a gain-of-function mutation in the erythrocyte aminolevulinic acid synthase (ALAS-2) gene. This leads to protoporphyrin IX (PPIX) accumulation in erythroid cells and other tissues [1]. In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi may result in liver disease. 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
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