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遗传性出血性毛细血管扩张症伴多种并发症,见于老年患者。

Hereditary haemorrhagic telangiectasia with multiple complications presenting in an older patient.

机构信息

Epsom Hospital, Dorking Rd, Epsom, Surrey, UK.

American University of the Caribbean, 1 University Drive at Jordan Road Cupecoy, St. Maarten.

出版信息

Age Ageing. 2019 Mar 1;48(2):307-309. doi: 10.1093/ageing/afy160.

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant multi-organ vascular disorder associated with bleeding and a reduced life expectancy. We present a 91-year-old woman with complications of previously undiagnosed HHT. This case demonstrates three potential complications: pulmonary arteriovenous malformation (AVM) resulting in a right to left shunt, cerebral infarctions and pericardial effusion. Despite these potentially life-threatening complications and the reduced life-expectancy associated with HHT the patient has survived to an advanced age. Due to the patient's late diagnosis and frailty, the treatment options of AVM embolization and pericardiocentesis were deemed inappropriate. The patient was treated with tranexamic acid to reduce bleeding severity and discharged home with a care package and home oxygen.

摘要

遗传性出血性毛细血管扩张症(HHT)是一种罕见的常染色体显性多器官血管疾病,与出血和预期寿命缩短有关。我们报告了一例 91 岁女性,患有先前未诊断出的 HHT 的并发症。该病例显示了三种潜在的并发症:肺动静脉畸形(AVM)导致右向左分流、脑梗死和心包积液。尽管存在这些潜在的危及生命的并发症以及与 HHT 相关的预期寿命缩短,但患者仍存活至高龄。由于患者的诊断较晚且身体虚弱,AVM 栓塞和心包穿刺术等治疗选择被认为不适合。患者接受了氨甲环酸治疗以减轻出血严重程度,并在出院时携带了护理包和家用氧气回家。

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