Abstract
Arthropathy is the most common and often the earliest clinical manifestation of hereditary
hemochromatosis (HH). It is difficult to treat and there is a high risk for early
endoprosthetic joint replacement. Research done during the last decade shows that
it is a joint disease in its own right. Clinically, there are degenerative articular
changes with an atypical pattern of distribution, a crystal arthropathy (CPPD) with
congenital joint swelling and synovitis like in RA. The X-ray image shows typical
but not exclusive findings. In MRI, groundbreaking subchondral findings are found,
especially in the large joints, and ultrasound shows inflammatory lesions in non-arthropathy
patients as well. In animal experiments and pathomorphological studies of the synovial
membrane, the arthropathy can be differentiated from osteoarthrits and RA. The pathophysiological
significance of iron overload can be distinguished from immunohistochemical and cytogenetic
investigations in chronic degenerative HH arthropathy and inflammatory-destructive
arthropathy in hemophilia. By elucidating the pathophysiology, new therapeutic approaches
can be formulated. In addition to colchicine, the IL-1 receptor antagonist anakinra
is available for activation of the NLRP3 inflammasome by CPPD crystals and subsequent
induction of IL-1β overproduction. Other manifestations include symptomatic pain therapy
and intensive physiotherapy and occupational therapy. To promote further research
into hemochromatosis arthropathy, the Hemochromatosis Arthropathy Research Initiative
(HARI) was established in 2016.
Die Arthropathie bei hereditärer Hämochromatose ist die häufigste und oft auch früheste
klinische Manifestation der Erkrankung. Die korrekte Diagnosestellung ist von hoher
Relevanz, da eine adäquate Therapie nicht nur relevante Endorganschäden verhindert,
sondern auch Lebensqualität und Lebenserwartung beeinflussen kann. Jedoch ist das
für die Arthropathie selbst oft schwierig.
Schlüsselwörter
Hämochromatose - Arthropathie - Pathophysiologie - Forschungsinitiative
Key words
haemochromatosis - arthropathy - pathophysiology - research initiative
