遗传性出血性毛细血管扩张症 1 例并文献复习。
A case of hereditary hemorrhagic telangiectasia and literature review.
机构信息
Department of Hematology, Huaihe Hospital of Henan University, Kaifeng, China.
Department of Hematology, Henan Cancer Hospital, The Affiliated Cancer Hospital of Zhengzhou University, Zhengzhou, China.
出版信息
J Clin Lab Anal. 2022 Aug;36(8):e24571. doi: 10.1002/jcla.24571. Epub 2022 Jun 26.
BACKGROUND
To discuss the clinical features of a patient with hereditary hemorrhagic telangiectasia (HHT).
METHODS
The clinical data of one patient with HHT are retrospectively analysed. In addition, we review the relevant literature.
RESULTS
A 32-year-old male patient was admitted to the hematology outpatient department of our hospital and presented with intermittent epistaxis for 24 years. In recent years, he was diagnosed with iron deficiency anemia. The nasal endoscopic examination showed telangiectasia at the front of the right-middle turbinate and the left nasal cavity. He had ENG genetic mutation positivity.
CONCLUSIONS
Patients with HHT may suffer from many complications, including bleeding, anemia, iron deficiency, and high-output heart failure. These patients may have telangiectasias and arteriovenous malformations in various organs.
背景
探讨遗传性出血性毛细血管扩张症（HHT）患者的临床特征。
方法
回顾性分析 1 例 HHT 患者的临床资料。此外，我们复习了相关文献。
结果
1 例 32 岁男性患者因间断鼻出血 24 年就诊于我院血液科门诊，近年来诊断为缺铁性贫血。鼻内镜检查显示右侧中鼻甲前端及左侧鼻腔见毛细血管扩张。患者 ENG 基因突变阳性。
结论
HHT 患者可能出现多种并发症，包括出血、贫血、缺铁和高输出量心力衰竭。这些患者可能在多个器官存在毛细血管扩张和动静脉畸形。
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