Sporadic porphyria cutanea tarda due to haemochromatosis
2006
textabstractHaemochromatosis 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.
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