A187 ERYTHROPOIETIC PROTOPORPHYRIA: AN UNUSUAL PRESENTATION OF ADVANCED LIVER FIBROSIS DURING INFANCY

Erythropoietic protoporphyria (EPP) is a rare disease caused by an inherited mutation in the FECH-Ferrochelatase gene. This heme synthesis disorder leads to impairment of iron insertion into the protoporphyrin IX ring to form heme, resulting in the accumulation of protoporphyrin in skin, plasma and liver. EPP has an estimated frequency of 1:75,000 to 1:200,000. Skin hypersensitivity begins during infancy upon light exposure. Advanced liver disease and liver failure are unusual reported in 1–4% of EPP patients. Herein we describe a case of EPP presenting in the first year of life with advanced liver fibrosis. A literature review is performed to identify management strategies and determine optimal treatment options. case report A 12 month-old girl presented with recurrent, painful facial swelling exacerbated by sunlight exposure. Physical exam revealed facial and palmar skin erosions along with scaling associated with firm hepatomegaly. Initial investigations showed elevated free serum protoporphyrin (50.6 umol/L), and high urine porphobilinogen (13 umol/L) that were consistent with a diagnosis of Erythropoietic protoporphyria. Initial CBC was normal and liver enzymes showed an elevated ALT of 133, AST of 138, GGT of 58 with a normal ALP of 144. She had a bilirubin of <2 and an INR of 1.2. U/S abdomen demonstrated a normal size echogenic liver with no focal abnormality, the spleen was normal, and small kidneys were identified with cortical thinning. A Liver biopsy exhibited marked cholestasis with signs of advanced fibrosis andbirefringent crystals. Genetic testing showed an unusual genotype of EPP with severe pathogenic compound heterozygous mutations in the FECH gene locus (c.1217G>A; p.Cys406Tyr and c.854A>G; p.Gln285Arg).Within one year of diagnosis, she had increasing hepatomegaly and deteriorating liver function tests. A mesh search of pubmed identified seven childhood cases of EPP with advanced liver fibrosis. All patients developed liver fibrosis in late childhood unlike our patient who had severe liver involvement during infancy. Four kids were treated with liver transplantation (LT) alone (n=2) or sequential LT with subsequent stem cell transplant (HST) (n=2), of which two survived. Of the remaining cases two died before receiving LT. Two cases of EPP with advanced liver fibrosis,revealed compound heterozygous FECH mutations which are not the typical genetic findings in North American EPP patients. This is a first reported case of EPP with advanced liver disease in infancy. The compound heterozygote FECH mutations in this case likely account for the early onset severe hepatopathy. While bone marrow transplant offers a cure for EPP its timing and tolerability deserves consideration in relation to the severity of liver disease and need for liver transplantation. None

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