Erythropoietic Protoporphyria Presenting as Liver Dysfunction

Document Type

Article

Abstract

INTRODUCTION:

Asymptomatic transaminitis is rarely the primary presentation of erythropoietic protoporphyria (EPP). However, it is a serious cause which can potentially necessitate liver transplantation. Because of the paucity with which this disease is seen there is no current recommended treatment option.

CASE DESCRIPTION/METHODS:

A 37-year-old female presented for evaluation of elevated liver enzymes (AST 306 and ALT 212) identified one year prior. Repeat AST and ALT showed spontaneous improvement (AST 64 and ALT 92). She denied alcohol or drug use and was asymptomatic except burning sensations of her hands and feet with exposure to sunlight. A right upper quadrant ultrasound with doppler was unremarkable. For further investigation, a liver biopsy showed histological changes consistent with EPP such as dark brown bile-like material deposited in the bile ducts, canaliculi, portal tract macrophages, and Kupffer cells (Figure 1). The deposits also demonstrated a red-yellow Maltese cross pattern on polarization microscopy (Figure 2). The patient underwent evaluation for concerns of porphyria previously, but diagnostic studies were inconclusive.

DISCUSSION:

EPP is a rare inherited disorder of heme synthesis with prevalence of 1:75,000 to 1:200,000. EPP results in elevated levels of protoporphyrin that can accumulate in several organs usually presenting in childhood [1,3]. The liver excretes protoporphyrin and in excess can cause oxidative stress [2,3]. Approximately, 5-20% of patients with EPP have hepatobiliary manifestations; more common is cholelithiasis and less often end-stage liver disease [2–3]. Most medical therapies aim to reduce the amount of protoporphyrin in circulation but none have been shown to prevent liver disease.

Therapies include hematin infusion to reduce bone marrow production. Due to its bile altering properties, ursodeoxycholic acid can be used to enhance secretion of protoporphyrin in bile. Cholestyramine can be used to bind protoporphyrin. Erythrocyte transfusions coupled with parenteral iron supplementation can decrease erythropoiesis and the amount of protoporphyrin made. Extracorporeal albumin dialysis and N-acetylcysteine are options as well. Liver transplantation is indicated in the case of end-stage liver disease; however, this does not eliminate recurrence [3].

Although EPP is a rare cause of hepatic injury it can have a devastating outcome for those affected. More research is needed to properly screen and treat patients with EPP with the goal of preventing hepatic morbidity.

First Page

S1313

DOI

10.14309/01.ajg.0000711988.73133.66

Publication Date

10-1-2020

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