A late presentation of a fatal disease: juvenile hemochromatosis.
A late presentation of a fatal disease: juvenile hemochromatosis.
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致命疾病的晚期表现：青少年血色病。
DOI：
10.1155/2013/875093
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发表时间：
2013
影响因子：
0.8
通讯作者：
Brown,Kyle
中科院分区：
文献类型：
--
作者：
Cherfane,Cynthia;Lee,Pauline;Guerin,Leana;Brown,Kyle
青少年血色素沉着症是一种罕见而严重的遗传性血色素沉着症。我们报告的情况下，39岁的女性谁提出了心力衰竭和肝硬化从以前未被识别的青少年血色病。这是文献中描述的最新介绍。诊断的一个重要线索是从20岁开始的闭经史，从未被调查过。患者在初次就诊后两个月死于顽固性心力衰竭。有内分泌或心脏表现的年轻患者应怀疑青少年型血色病。早期诊断是至关重要的，因为静脉切开术可以改善预后，延迟或防止进展为心力衰竭和肝硬化。
Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39‐year‐old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis. This is the latest presentation described in the literature. An important clue to the diagnosis was a history of amenorrhea since the age of 20 that had never been investigated. The patient died of intractable heart failure two months after the initial presentation. Juvenile hemochromatosis should be suspected in a young patient with endocrine or cardiac manifestations. Early diagnosis is crucial since phlebotomy can improve the prognosis and delay or prevent progression to heart failure and cirrhosis.