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Undiagnosed acromegaly as an underlying cause of sudden death
Forensic Science, Medicine and Pathology ( IF 1.5 ) Pub Date : 2021-04-13 , DOI: 10.1007/s12024-021-00361-5
Anna Elisabet Borgen , Anne Birgitte Dyhre Bugge , Eva Løbner Lund , Jytte Banner

We report a case of sudden death in a 31-year-old male diagnosed at autopsy with clinical undiagnosed acromegaly. The purpose of this report is to underline the importance of health professionals reacting to phenotypic acromegaly, such as acral enlargement and/or unexplained hypertension, including a range of severe comorbidities, to avoid a fatal outcome. Recent studies have shown that the increased mortality seen in acromegaly patients can be reversed with modern treatment aimed at normalizing GH and IGF-I levels. One year before death, the presented case was diagnosed with hypertension, but was otherwise described as healthy. The forensic autopsy, including post-mortem CT, showed phenotypic facial and body characteristics for acromegaly, general visceromegaly, and a pituitary tumor. The cause of death was heart failure due to end-stage acromegalic cardiopathy. Because the disease is slowly progressive, the individual himself, and the people close to him, might not have considered the acromegaly-related facial changes as abnormal.



中文翻译:

未诊断为肢端肥大症是猝死的根本原因

我们报告了一名在尸检中被诊断为临床未诊断的肢端肥大症的31岁男性突然死亡的案例。本报告的目的是强调卫生专业人员应对表型肢端肥大症(例如手足增大和/或无法解释的高血压,包括一系列严重合并症)做出反应以避免致命后果的重要性。最近的研究表明,采用旨在使GH和IGF-I水平达到正常水平的现代治疗可以逆转肢端肥大症患者的死亡率增加。死亡前一年,本病例被诊断出患有高血压,但被描述为健康。法医尸检(包括验尸CT)显示了肢端肥大症,全身粘膜肥大症和垂体瘤的表型面部和身体特征。死亡原因是末期肢端肥大性心脏病所致的心力衰竭。由于疾病是缓慢发展的,因此个人和与他亲近的人可能没有将与肢端肥大症相关的面部变化视为异常。

更新日期:2021-04-13
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