Arthropathy of genetic hemochromatosis: a major and distinctive manifestation of the disease.
Genetic hemochromatosis is not a rare disease and represents a frequently underestimated cause of arthropathy. Joint involvement is one of the most frequent manifestations of the disease and presents typical clinical and radiological features that strongly suggest the diagnosis. Joint complaints are often the first clinical manifestation of GH. Their identification may be crucial to establish the diagnosis in the pre-cirrhotic phase and to institute appropriate therapy to prevent organ damage and associated mortality. Recent identification of the genetic defect responsible for the disease is leading to new insights into the pathogenesis of GH and the associated arthropathy.
Department of Internal Medicine and Rheumatology, Coimbra University Hospital, Coimbra, Portugal. luis_ines@hotmail.com
L S
LS
Inês
J A
JA
da Silva
A B
AB
Malcata
A L
AL
Porto
D001177:Arthropathy, Neurogenic / Q000209:etiology* / Q000235:genetics*; D006432:Hemochromatosis / Q000150:complications* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans