Abstract
Background: Porphyria cutanea tarda (PCT) is a complex metabolic disease resulting from altered activity of the enzyme uroporphyrinogen decarboxylase (UROD) in the liver resulting in accumulation of uroporphyrin. PCT presents as a blistering photodermatitis with skin fragility, vesicles, scarring and milia. Case: We report a case of PCT in a 67-year-old man with hemochromatosis (HFE) gene mutation who, following a major syncopal episode in response to venesection was commenced on low dose hydroxychloroquine. Conclusions: Low dose hydroxychloroquine provided a safe and effective alternative to venesection in this patient who was needle phobic.
Subject
General Pharmacology, Toxicology and Pharmaceutics,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference6 articles.
1. Hepatitis C, porphyria cutanea tarda and liver iron: an update.;F Ryan Caballes;Liver Int.,2012
2. Associations among behavior-related susceptibility factors in porphyria cutanea tarda.;S Jalil;Clin. Gastroenterol. Hepatol.,2010
3. Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.;M Horner;Int. J. Dermatol.,2013
4. Alcohol and porphyrin metabolism.;M Doss;Alcohol Alcohol.,2000
5. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda.;A Singal;Clin. Gastroenterol. Hepatol.,2012