RESUMO
Genetic haemochromatosis is an autosomal recessive disorder, mostly due to HFE gene mutation, leading to loss of hepcidin and unregulated iron loading. The consequences include hepatic fibrosis, cardiomyopathy and skin pigmentation, and these sequelae along with fatigue may be prevented by 'de-ironing'. Joint pain is frequently reported at diagnosis and an arthropathy that is essentially accelerated osteoarthritis may develop, with onset at a younger than expected age, involvement of typical and atypical joints, such as metacarpophalangeal and ankle, exuberant osteophytes and rapid progression to cartilage loss and the need for arthroplasty. The arthropathy differs from the other features in not responding to de-ironing, new joints becoming affected once patients are in maintenance, and, intriguingly, classic cases occur in the absence of iron overload with major and minor HFE mutations. These anomalies present a conundrum that raise the question whether HFE mutations have an arthritogenic consequence independent of hepcidin and iron.
