von Herbay A, Niederau C, Pilichowska M, Reinecke P, Perings C, Vester E, Strohmeyer G, Häussinger D
Abteilung für Gastroenterologie, Hepatologie und Infektiologie, Heinrich-Heine-Universität Düsseldorf.
Z Gastroenterol. 1996 Mar;34(3):178-82.
Hemochromatosis is an autosomal-recessive disease which causes iron-overload of various organs including liver, pancreas and heart. This report analyzes the course of hemochromatosis in two patients (a 28-year-old man and a 57-year-old woman) in whom hemochromatosis was detected because of severe cardiomyopathy. Initial symptoms were edema, anasarca and dyspnea. Further examinations showed pleural effusion, decreased left-ventricular-function, skin pigmentation, diabetes mellitus and liver cirrhosis. Although phlebotomy treatment and iron-chelation therapy with deferoxamine initially resulted in some improvement, both patients died from cardiomyopathy three months after diagnosis. The reports of these two cases underline that hemochromatosis-associated cardiomyopathy is often irreversible if severe congestive heart failure is present. In cardiac decompensation heart transplantation has to be considered as early as possible.
血色素沉着症是一种常染色体隐性疾病，可导致包括肝脏、胰腺和心脏在内的各种器官铁过载。本报告分析了两名因严重心肌病而被检测出血色素沉着症的患者（一名28岁男性和一名57岁女性）的血色素沉着症病程。初始症状为水肿、全身水肿和呼吸困难。进一步检查显示有胸腔积液、左心室功能下降、皮肤色素沉着、糖尿病和肝硬化。尽管放血疗法和去铁胺铁螯合疗法最初带来了一些改善，但两名患者均在诊断后三个月死于心肌病。这两例病例报告强调，如果存在严重充血性心力衰竭，血色素沉着症相关的心肌病通常是不可逆的。在心脏失代偿时，必须尽早考虑心脏移植。
