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Variegate Porphyria Triggered by Acute Hepatitis A Infection

BACKGROUND: Variegate porphyria (VP) is a rare disorder of haem biosynthesis. We report a novel association with hepatitis A infection. PATIENT AND METHODS: A 31-year-old man was diagnosed with acute hepatitis A infection. During recovery, he presented with abdominal pain and a photoaggravated blist...

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Autores principales: Micallef, Daniel, Agius, Charlton, Mallia-Azzopardi, Charles, Buhagiar, Gerald, Scerri, Lawrence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SMC Media Srl 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727627/
https://www.ncbi.nlm.nih.gov/pubmed/33312991
http://dx.doi.org/10.12890/2020_001688
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author Micallef, Daniel
Agius, Charlton
Mallia-Azzopardi, Charles
Buhagiar, Gerald
Scerri, Lawrence
author_facet Micallef, Daniel
Agius, Charlton
Mallia-Azzopardi, Charles
Buhagiar, Gerald
Scerri, Lawrence
author_sort Micallef, Daniel
collection PubMed
description BACKGROUND: Variegate porphyria (VP) is a rare disorder of haem biosynthesis. We report a novel association with hepatitis A infection. PATIENT AND METHODS: A 31-year-old man was diagnosed with acute hepatitis A infection. During recovery, he presented with abdominal pain and a photoaggravated blistering skin eruption. RESULTS: Urine porphyrin precursors were markedly raised with high coproporphyrin III isomer levels. Faecal protoporphyrin levels were markedly increased and a maximum plasma fluorescence emission at 629 nm was noted. DISCUSSION: Acute hepatitis A infection, and the associated metabolic stress exerted on the haem biosynthetic pathway, induced overt presentation of latent VP. LEARNING POINTS: There should be a high index of suspicion for an acute cutaneous porphyria when a photosensitive rash is accompanied by neurovisceral symptoms. Latent porphyria may be overtly manifested after appropriate triggers which stress the metabolic haem biosynthetic pathway. One such trigger demonstrated by this case presentation is acute hepatitis A infection. The diagnostic approach to the investigation of a suspected acute cutaneous porphyria is initially with light-protected samples for urinary porphyrin precursors and plasma for fluorescence scanning. These should be sampled ideally during symptomatic periods. Further specialist analysis with fractionation of urinary and faecal porphyrins is necessary to distinguish between the two different acute cutaneous porphyrias.
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spelling pubmed-77276272020-12-11 Variegate Porphyria Triggered by Acute Hepatitis A Infection Micallef, Daniel Agius, Charlton Mallia-Azzopardi, Charles Buhagiar, Gerald Scerri, Lawrence Eur J Case Rep Intern Med Articles BACKGROUND: Variegate porphyria (VP) is a rare disorder of haem biosynthesis. We report a novel association with hepatitis A infection. PATIENT AND METHODS: A 31-year-old man was diagnosed with acute hepatitis A infection. During recovery, he presented with abdominal pain and a photoaggravated blistering skin eruption. RESULTS: Urine porphyrin precursors were markedly raised with high coproporphyrin III isomer levels. Faecal protoporphyrin levels were markedly increased and a maximum plasma fluorescence emission at 629 nm was noted. DISCUSSION: Acute hepatitis A infection, and the associated metabolic stress exerted on the haem biosynthetic pathway, induced overt presentation of latent VP. LEARNING POINTS: There should be a high index of suspicion for an acute cutaneous porphyria when a photosensitive rash is accompanied by neurovisceral symptoms. Latent porphyria may be overtly manifested after appropriate triggers which stress the metabolic haem biosynthetic pathway. One such trigger demonstrated by this case presentation is acute hepatitis A infection. The diagnostic approach to the investigation of a suspected acute cutaneous porphyria is initially with light-protected samples for urinary porphyrin precursors and plasma for fluorescence scanning. These should be sampled ideally during symptomatic periods. Further specialist analysis with fractionation of urinary and faecal porphyrins is necessary to distinguish between the two different acute cutaneous porphyrias. SMC Media Srl 2020-09-22 /pmc/articles/PMC7727627/ /pubmed/33312991 http://dx.doi.org/10.12890/2020_001688 Text en © EFIM 2020 This article is licensed under a Commons Attribution Non-Commercial 4.0 License (https://creativecommons.org/licenses/by-nc-nd/4.0/)
spellingShingle Articles
Micallef, Daniel
Agius, Charlton
Mallia-Azzopardi, Charles
Buhagiar, Gerald
Scerri, Lawrence
Variegate Porphyria Triggered by Acute Hepatitis A Infection
title Variegate Porphyria Triggered by Acute Hepatitis A Infection
title_full Variegate Porphyria Triggered by Acute Hepatitis A Infection
title_fullStr Variegate Porphyria Triggered by Acute Hepatitis A Infection
title_full_unstemmed Variegate Porphyria Triggered by Acute Hepatitis A Infection
title_short Variegate Porphyria Triggered by Acute Hepatitis A Infection
title_sort variegate porphyria triggered by acute hepatitis a infection
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727627/
https://www.ncbi.nlm.nih.gov/pubmed/33312991
http://dx.doi.org/10.12890/2020_001688
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