title: 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.
authors.affiliation: Department of Clinical Biochemistry, St James University Hospital, Leeds, UK ahailuvai@nhs.net.
authors.forename: Ahai
authors.initials: A
authors.lastname: Luvai
authors.affiliation: Department of Clinical Biochemistry, St James University Hospital, Leeds, UK.
authors.forename: Wycliffe
authors.initials: W
authors.lastname: Mbagaya
authors.affiliation: Department of Clinical Biochemistry, St James University Hospital, Leeds, UK.
authors.forename: Deepa
authors.initials: D
authors.lastname: Narayanan
authors.affiliation: Department of Clinical Biochemistry, St James University Hospital, Leeds, UK.
authors.forename: Tim
authors.initials: T
authors.lastname: Degg
authors.affiliation: Department of Hepatobiliary Surgery, St James University Hospital, Leeds, UK.
authors.forename: Giles
authors.initials: G
authors.lastname: Toogood
authors.affiliation: Department of Histopathology, St James University Hospital, Leeds, UK.
authors.forename: Judith I
authors.initials: JI
authors.lastname: Wyatt
authors.affiliation: Department of Oncology, St James University Hospital, Leeds, UK.
authors.forename: Daniel
authors.initials: D
authors.lastname: Swinson
authors.affiliation: Haematology Department, Harrogate District Hospital, Harrogate, UK.
authors.forename: Claire J
authors.initials: CJ
authors.lastname: Hall
authors.affiliation: Department of Clinical Biochemistry, St James University Hospital, Leeds, UK.
authors.forename: Julian H
authors.initials: JH
authors.lastname: Barth
mesh_terms: D006528:Carcinoma, Hepatocellular / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D008875:Middle Aged; D046350:Porphyria, Variegate / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism
keywords: Cancer; inborn errors of metabolism; liver disease