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Aktuelle Rheumatologie 2018; 43(03): 231-234
DOI: 10.1055/s-0043-120991
Übersichtsarbeit
Georg Thieme Verlag KG Stuttgart · New York

Die Arthropathie bei hereditärer Hämochromatose

Eine wichtige Differenzialdiagnose zu entzündlichen und degenerativen GelenkerkrankungenArthropathy in Hereditary Haemochromatosis
Gernot Keyßer
1   Department für Innere Medizin, Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Halle (Saale), Halle (Saale)
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Publication History

Publication Date:
27 November 2017 (online)

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Zusammenfassung

Die Arthropathie bei hereditärer Hämochromatose (HH) ist eine wichtige metabolische und die häufigste genetisch bedingte Gelenkerkrankung in der Rheumatologie. Ihre Manifestation ist variabel. Unbehandelt ist die Erkrankung regelhaft progredient und gibt Anlass zu Verwechslungen mit Arthrosen, rheumatoider Arthritis oder einer Chondrokalzinose aus anderer Ursache. Dank der Identifikation der wesentlichen Risikogene hat sich die Diagnostik der HH in den letzten Jahren so verbessert, dass das Vollbild mit ausgeprägter Schädigung von Leber, Pankreas und Herz seltener geworden ist. Als Therapie hat die Aderlassbehandlung nichts von ihrer Bedeutung verloren. Das Screening von Familienangehörigen Betroffener kann subklinische Fälle erkennen, bevor eine massive Eisenüberladung einsetzt.

Abstract

Hereditary haemochromatosis (HH) arthropathy is an important metabolic and the most frequent inheritable joint disease in rheumatology. The involvement of joints in HH is variable and usually progressive. HH arthropathy may be misclassified as osteoarthritis, rheumatoid arthritis or chondrocalcinosis from other causes. As the most relevant associated gene defects have been identified, diagnostic accuracy has largely improved over the past few years. Therefore, the development of the full-blown picture of HH with marked damage of liver, pancreas and heart has become rare. Treatment continues to rely on phlebotomy. The screening of relatives may identify early cases before excessive iron overload sets in.

Schlüsselwörter

hereditäre Hämochromatose - Arthropathie - Chondrokalzinose - Aderlass

Key words

hereditary hemochromatosis - arthropathy - chondrocalcinosis - phlebotomy
 

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