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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.


DOI:10.7812/TPP/21.137
PMID:35933679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9662250/
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。

相似文献

[1]
Not Your Typical Nosebleed: A Case Report and Personal Account of a Patient With Osler-Weber-Rendu Syndrome.

Perm J. 2022-6-29

[2]
Clinical Practice Guideline: Nosebleed (Epistaxis).

Otolaryngol Head Neck Surg. 2020-1

[3]
[Iron deficiency anemia in a patient with hereditary hemorrhagic telangiectasia. Case report].

Ter Arkh. 2023-9-29

[4]
[Intractable epistaxis in Osler-Rendu-Weber syndrome].

Rev Stomatol Chir Maxillofac. 2011-11

[5]
Telangiectasias, recurrent epistaxis and a strong family history-a case of Osler- Weber-Rendu Syndrome in Pakistan.

J Pak Med Assoc. 2024-4

[6]
A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome.

Medicina (Kaunas). 2022-2-22

[7]
Clinical Practice Guideline: Nosebleed (Epistaxis) Executive Summary.

Otolaryngol Head Neck Surg. 2020-1

[8]
[Chronic, hemorrhage-induced iron deficiency anemia in Osler disease].

Ther Umsch. 1999-9

[9]
Osler-Weber-Rendu syndrome.

QJM. 2020-8-1

[10]
Osler-Weber-Rendu Syndrome in Relation to Dermatology.

Actas Dermosifiliogr (Engl Ed). 2019-9

本文引用的文献

[1]
Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

Respir Med Case Rep. 2020-6-24

[2]
Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population.

Perm J. 2019

[3]
Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population.

J Pediatr. 2018-4-11

[4]
Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study.

Neurosurgery. 2018-1-1

[5]
CARE guidelines for case reports: explanation and elaboration document.

J Clin Epidemiol. 2017-9

[6]
Comprehensive management of hereditary hemorrhagic telangiectasia.

Curr Opin Otolaryngol Head Neck Surg. 2017-2

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[Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): clinical manifestations and multidisciplinary management].

Rev Med Suisse. 2016-5-4

[8]
Optimal management of hereditary hemorrhagic telangiectasia.

J Blood Med. 2014-10-15

[9]
Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study.

Am J Med Genet A. 2012-4-23

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

J Med Genet. 2006-2

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