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遗传性血色素沉着症的晚期复杂表现

A Late and Complex Presentation of Hereditary Haemochromatosis.

作者信息

Kurian Roshini, Anand Preethu, Ghaly George

机构信息

Internal Medicine, North Cumbria Integrated Care, NHS Foundation Trust - Cumberland Infirmary, Carlisle, GBR.

Internal Medicine, University Hospitals of Leicester, NHS Trust - Leicester Royal Infirmary, Leicester, GBR.

出版信息

Cureus. 2022 Nov 29;14(11):e32025. doi: 10.7759/cureus.32025. eCollection 2022 Nov.

Abstract

We report a case of a 78-year-old male with a complex presentation that first diverted our attention from the underlying hereditary haemochromatosis (HH). A fit patient who initially came with leg pain and eventually died within 3 months of presenting with several syndromes relatable to HH that uncommonly manifest together. His initial presentation was pyomyositis in the thigh muscles followed by a diagnosis of myelodysplasia - refractory anaemia with excess blasts (RAEB), congestive cardiac failure and liver abscesses. End-stage heart failure and recurrent infections were the main causes of the patient's death prior to trials of specific treatment for HH. Recurrent atypical infections and myelodysplastic syndrome (MDS) should raise alarms for iron overload. In HH there can be a rapid progression of the disease process resulting in nearly irreversible organopathy, thus impeding treatment trials. Early detection and reduction of iron overload may reduce morbidity and mortality.

摘要

我们报告了一例78岁男性患者,其临床表现复杂,最初使我们的注意力从潜在的遗传性血色素沉着症(HH)上转移。该患者身体状况良好,最初因腿痛前来就诊,最终在出现与HH相关的几种罕见共同表现的综合征后3个月内死亡。他最初的表现是大腿肌肉脓性肌炎,随后被诊断为骨髓增生异常综合征-伴有过多原始细胞的难治性贫血(RAEB)、充血性心力衰竭和肝脓肿。在针对HH进行特异性治疗试验之前,终末期心力衰竭和反复感染是患者死亡的主要原因。反复出现的非典型感染和骨髓增生异常综合征(MDS)应引起对铁过载的警惕。在HH中,疾病进程可能迅速进展,导致几乎不可逆转的器官病变,从而妨碍治疗试验。早期发现并减少铁过载可能降低发病率和死亡率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7402/9799966/08774a3849d4/cureus-0014-00000032025-i01.jpg

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