遗传性出血性毛细血管扩张症

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概述

遗传性出血性毛细血管扩张症是一种遗传性疾病，可导致动脉和静脉之间的连接异常，叫做动静脉畸形（AVM）。最常见的受累部位是鼻子、肺、脑和肝脏。

这些 AVM 可能逐渐增大，并可能出血或破裂，有时会导致灾难性的并发症。

最常见的特征为自发性、无缘由的鼻出血，有时每天一次。鼻子和肠道持续流血会导致严重的缺铁性贫血和生活质量下降。

遗传性出血性毛细血管扩张症（HHT）又称 Osler-Weber-Rendu 病，是一种遗传自父母的遗传性疾病。其严重程度因人而异，甚至在同一个家庭中也是如此。

如果您患有 HHT，您可能应该让您的孩子去检查这项疾病，因为他们可能在没有出现任何症状的情况下受到影响。

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症状

遗传性出血性毛细血管扩张症的体征和症状包括：

  • 鼻出血，有时天天出血，通常从童年开始
  • 带状红色血管或微小红色斑点，特别是嘴唇、面部、指尖、舌头和口腔内表面上
  • 缺铁性贫血
  • 气短
  • 头痛
  • 癫痫发作
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病因

HHT是一种遗传病。HHT为常染色体显性遗传病，如果您的父亲或母亲有 HHT，您有 50% 的患病几率。如果您有 HHT，您的孩子的患病几率为50%。

来自妙佑医疗国际员工

在 Mayo Clinic 治疗

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诊断与治疗
Dec. 28, 2022
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  2. Chovlin C. Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). https://www.uptodate.com/contents/search. Accessed Jan. 14, 2019.
  3. Ferri FF. Osler-Rendu-Weber syndrome. In: Ferri's Clinical Advisor 2019. Philadelphia, Pa.: Elsevier; 2019. https://www.clinicalkey.com. Accessed Jan. 14, 2019.
  4. Myers EN, et al., eds. Surgical management of hereditary hemorrhagic telangiectasia. In: Operative Otolaryngology Head and Neck Surgery. 3rd ed. Philadelphia, Pa.: Elsevier; 2018. https://www.clinicalkey.com. Accessed Jan. 18, 2019.
  5. Kühnel T, et al. Hereditary hemorrhagic telangiectasia. Otolaryngologic Clinics of North America. 2018;51:237.
  6. AskMayoExpert. Hereditary hemorrhagic telangiectasia. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2018.
  7. Chovlin C. Management of hereditary hemorrhagic telangiectasia. https://www.uptodate.com/contents/search. Accessed Jan. 14, 2019.
  8. National Library of Medicine. Hereditary hemorrhagic telangiectasia. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia. Accessed Jan. 22, 2019.
  9. North American HHT Centers of Excellence. CureHHT. https://directory.curehht.org/hht-centers. Accessed Jan. 16, 2019.
  10. Gossage JR. Therapeutic approach to adult patients with pulmonary arteriovenous malformations. https://www.uptodate.com/contents/search. Accessed Jan. 22, 2019.
  11. Singer RJ, et al. Brain arteriovenous malformations. https://www.uptodate.com/contents/search. Accessed Jan. 22, 2019.
  12. Iyer VN, et al. Effect of center volume on outcomes in hospitalized patients with hereditary hemorrhagic telangiectasia. Mayo Clinic Proceedings. 2016;91:1753.
  13. Morrow ES Jr. Allscripts EPSi. Mayo Clinic, Rochester, Minn. Oct. 12, 2018.

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