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Arthritis und Rheuma 2020; 40(04): 253-259
DOI: 10.1055/a-1193-3146
Schwerpunkt
© Georg Thieme Verlag KG Stuttgart · New York

Hämochromatose und Arthropathie

Ein kurzer ÜberblickHemochromatosis and arthropathyA short review
Valentin S. Schäfer∗
1   Medizinische Klinik III, Hämatologie, Onkologie, Rheumatologie und klinische Immunologie, Universitätsklinikum Bonn
,
Lena Hatzmann∗
1   Medizinische Klinik III, Hämatologie, Onkologie, Rheumatologie und klinische Immunologie, Universitätsklinikum Bonn
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Publication History

Publication Date:
20 August 2020 (online)

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ZUSAMMENFASSUNG

Die Hämochromatose ist eine Eisenspeicherkrankheit. Man unterscheidet zwischen der häufigen, mit einer Häufigkeit von ca. 1/200–1/400 vorkommenden hereditären Hämochromatose (HH), und der selteneren sekundären Hämochromatose als Folge anderer Erkrankungen. Dieser Review fokussiert sich auf die HH. Bei der HH finden sich Mutationen im HFE-Gen oder seltener im Transferrinrezeptor-2-Gen. Hierbei kommt es im Dünndarm zu einer vermehrten Eisenaufnahme, welches sich daraufhin in verschiedenen Organen ablagert. Unbehandelt können sich so beispielsweise Lebererkrankungen, Erkrankungen der endokrinen Drüsen, Hauterscheinungen, Arthritis oder Herzinsuffizienz entwickeln. Ungefähr die Hälfte der HH-Patienten entwickelt eine Arthritis. Eine frühe Diagnosestellung ist wichtig, um die Entstehung von Krankheiten zu verhindern. Bereits einfache Laboruntersuchungen und nativradiologische Bildgebung können erste wichtige diagnostische Hinweise liefern. Die Behandlung sollte die Prophylaxe und Behandlung der Folgekrankheiten beinhalten. Wichtigste Maßnahme sind regelmäßige Aderlässe. Chelatbildner können additiv eingesetzt werden.

ABSTRACT

Hemochromatosis is an iron overload disease. It exists as hereditary, primary (HH) form with an incidence of 1/200–1/400 and a secondary form. This article reviews primary hemochromatosis. In this disease, mutations of the HFE gene or rarely of the transferrinreceptor 2-gene, cause an increase of resorption of iron by the bowel. Following arthritis, cardiac diseases, like heart failure, liver diseases, endocrinological diseases or skin lesions are possible concomitant diseases. About 50 % of all patients develop arthritis. Early diagnosis is therefore important, in order to prevent development of the above-mentioned diseases. Initially basic laboratory parameters and conventional radiography can help in diagnosis of suspicious patients. Treatment should consist of prevention and treatment of concomitant diseases. The most important therapy is phlebotomy. Additionally, therapy with chelating agents can be indicated.

Schlüsselwörter

Hämochromatose - Arthropathie

Keywords

Hemochromatosis - arthropathy
 

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