Hepatocellular carcinoma in variegate porphyria: a case report and literature review

Abstract

Variegate porphyria is an autosomal dominant acute hepatic porphyria characterized by photosensitivity and acute neurovisceral attacks. Hepatocellular carcinoma has been described as a potential complication of variegate porphyria in case reports. We report a case of a 48-year-old woman who was diagnosed with hepatocellular carcinoma following a brief history of right upper quadrant pain which was preceded by a few months of blistering lesions in sun-exposed areas. She was biochemically diagnosed with variegate porphyria, and mutational analysis confirmed the presence of a heterozygous mutation in the protoporphyrinogen oxidase gene. Despite two hepatic resections, she developed pulmonary metastases. She responded remarkably well to Sorafenib and remains in remission 16 months after treatment. A review of the literature revealed that hepatocellular carcinoma in variegate porphyria has been described in at least eight cases. Retrospective and prospective cohort studies have suggested a plausible association between hepatocellular carcinoma and acute hepatic porphyrias. Hepatic porphyrias should be considered in the differential diagnoses of hepatocellular carcinoma of uncertain aetiology. Patients with known hepatic porphyrias may benefit from periodic monitoring for this complication.

A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review

“…A previous study reported a young VP case with epilepsy, mental retardation and premature adrenarche symptoms, but death occurred later [ 15 ]. Hepatocellular carcinoma in VP has been described in at least eight cases with VP, indicating the risk of cancer in these patients [ 19 ]. All of these data emphasize that there are various skin and neurological symptoms in these patients.…”

Hepatocellular carcinoma in non-cirrhotic liver: A comprehensive review

“…Acute hepatic porphyrias which include 3 autosomal dominant disorders: Acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP) has also been considered as a cause of non-cirrhotic HCC[66]. Overproduction of aminolevulinic acid and/or porphobilinogen overproduction and excretion has been implicated as a cause of hepatic carcinogenesis in AIP, but the mechanism is poorly understood in VP and HCP[67].…”

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword

“…Evidence linking HCC to VP is insufficient and is related to a small number of published case reports and some individuals identified in cohort studies [36][37]. The cohort studies gave frequencies ranging from 1.3% to 5.4% [38].…”