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非典型性鼻出血:一例 Osler-Weber-Rendu 综合征患者的病例报告和个人经历。

Not Your Typical Nosebleed: A Case Report and Personal Account of a Patient With Osler-Weber-Rendu Syndrome.

机构信息

School of Osteopathic Medicine, Touro University California, Vallejo, CA, USA.

Department of Otolaryngology-Head and Neck Surgery, Kaiser Permanente, Vallejo, CA, USA.

出版信息

Perm J. 2022 Jun 29;26(2):138-143. doi: 10.7812/TPP/21.137. Epub 2022 Jun 15.

Abstract

Introduction Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia, is a rare genetic disease that causes recurrent epistaxis and anemia. Numerous bleeding vascular malformations can be found throughout the body. Case presentation A 75-year-old woman presented to her hematologist with recurrent epistaxis, iron deficiency anemia, menorrhagia, and hypothyroidism. Her mother had similar nosebleeds, and physical examination revealed small vascular malformations on the conjunctiva, oropharynx, tongue, lip, and palate. Heavy epistaxis occurred several times per week. Multiple nasal and gastrointestinal endoscopic procedures were performed. She received over 100 iron infusions and multiple blood transfusions. Overall treatment involved integrated care with multiple medical specialties. Conclusion Hereditary hemorrhagic telangiectasia and other complex diseases are best treated with a multidisciplinary approach within an integrated health care setting.

摘要

介绍

奥-韦-兰杜(Osler-Weber-Rendu)综合征,又称遗传性出血性毛细血管扩张症,是一种罕见的遗传性疾病,可导致反复鼻出血和贫血。全身可发现许多出血性血管畸形。

病例介绍

一位 75 岁女性因反复鼻出血、缺铁性贫血、月经过多和甲状腺功能减退症就诊于血液科。其母亲也有类似的鼻出血,体格检查发现结膜、口咽、舌、唇和腭有小血管畸形。每周发生数次重度鼻出血。多次行鼻内镜和胃肠镜检查。她接受了 100 多次铁输注和多次输血。整体治疗涉及多学科医疗专业的综合护理。

结论

遗传性出血性毛细血管扩张症和其他复杂疾病最好在综合性医疗保健环境中通过多学科方法进行治疗。

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本文引用的文献

1
Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.遗传性出血性毛细血管扩张症与肺动静脉畸形
Respir Med Case Rep. 2020 Jun 24;30:101137. doi: 10.1016/j.rmcr.2020.101137. eCollection 2020.
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CARE guidelines for case reports: explanation and elaboration document.病例报告的CARE指南:解释与阐述文件。
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Comprehensive management of hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症的综合管理
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Optimal management of hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症的优化管理
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