Sporadic porphyria cutanea tarda due to haemochromatosis

Neth J Med. 2006 Sep;64(8):307-9.

Abstract

Haemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues. Sometimes this disease presents as a cutanea porphyria. We describe a patient with joint complaints and blistering skin lesions on sun-exposed skin. After identifying the porphyria cutanea tarda by urine analysis we found that the serum activity of uroporphyrinogen decarboxylase (UROD) was normal, meaning a partial inactivation of UROD in liver tissue due to external factors. Further investigation showed the homozygous Cys282Tyr missense mutation and high levels of serum ferritin. It is important to recognise the symptoms of iron overloading at an early stage because hereditary haemochromatosis needs to be treated immediately. We therefore advocate routine sampling of ferritin levels in patients with unexplained joint complaints.

Publication types

  • Case Reports

MeSH terms

  • DNA / genetics
  • Diagnosis, Differential
  • Ferritins / blood
  • Hemochromatosis / blood
  • Hemochromatosis / complications*
  • Hemochromatosis / genetics
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation, Missense
  • Porphyria Cutanea Tarda / blood
  • Porphyria Cutanea Tarda / diagnosis
  • Porphyria Cutanea Tarda / etiology*
  • Uroporphyrinogen Decarboxylase / blood

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • DNA
  • Ferritins
  • Uroporphyrinogen Decarboxylase