[Hemochromatosis related Arthropathy].

Hemochromatosis related Arthropathy Abstract. Hemochromatosis is an autosomal recessive disease that is caused by an HFE gene mutation (High Iron Fe) in most patients. Pathophysiologically, the effect of the mutation is an increased iron absorption in the gut. It is a systemic disorder which, in addition to the involvement of the musculoskeletal system (MSK), can lead to a diabetic metabolic state, liver cirrhosis and skin discoloration, as well as other organ manifestations such as cardiopathy or hypogonadism in the late stages. MSK complications include arthropathy in the form of osteoarthritis, typically of the MCP 2 and 3 joints, and calcium pyrophosphate-associated (CPPD) arthritis. Osteoporosis, as a further complication, is multifactorial. The therapy of hemochromatosis consists of phlebotomy, oral therapy with iron chelators is also possible. Although, these measures have a positive effect on the development of organ complications such as liver cirrhosis, they show little effect on the MSK manifestations, which are treated in analogy to the idiopathic osteoarthritis or pseudogout. The same is true for osteoporosis.