遗传性出血性毛细血管扩张症的早期识别与 全科管理：一例报告及文献复习

Early Identification and General Management of Hereditary Hemorrhagic Telangiectasia: A Case Report and Literature Review

摘要: 遗传性出血性毛细血管扩张症(HHT)是一种累及多系统的血管性疾病，其遗传方式符合常染色体显性遗传规律，临床上以反复发作的鼻出血、特征性的皮肤黏膜毛细血管扩张以及各重要脏器的动静脉畸形为主要表现。本文报道1例以“反复鼻出血3年”为主诉的HHT先证者(女，51岁)的诊疗过程，全科医生通过详细问诊发现其父亲有高度疑似病史，查体见舌尖及鼻腔黏膜多发性毛细血管扩张，依据Curaçao国际诊断标准临床拟诊为HHT，后经基因测序证实为ENG基因突变(HHT1型)，同时发现其女儿存在相同突变。入院后完善鼻内镜、胸部CT、头颅MRI及腹部超声等系统性筛查，目前未发现肺、脑、肝等重要脏器存在动静脉畸形。全科医生为其制定了涵盖健康宣教、症状管理及定期随访的个体化长期管理方案。本病例提醒我们，对于存在疑似家族史，反复鼻出血的患者，全科医生应保持对HHT等罕见遗传性疾病的警觉性。作为患者健康的“守门人”，全科医生在早期识别、精确转诊、结果整合与终身随访中发挥着不可替代的枢纽作用。构建以全科医生为核心的区域化管理网络是改善患者预后、提升其生活质量的关键。

Abstract: Hereditary hemorrhagic telangiectasia (HHT) is a multisystem vascular disease. Its inheritance pattern follows an autosomal dominant mode. Clinically, it is characterized by recurrent epistaxis, characteristic mucocutaneous telangiectasia, and arteriovenous malformations in multiple vital organs. This article reports the diagnosis and management of a 51-year-old female proband with a 3-year history of recurrent epistaxis. Through detailed medical history inquiry, the general practitioner identified a suggestive family history in her father. Physical examination showed multiple telangiectases on the tongue tip and nasal mucosa. According to the Curaçao criteria, a clinical diagnosis of HHT was made, and genetic sequencing confirmed an ENG gene mutation (HHT type 1). The same mutation was also detected in her daughter. During hospitalization, systematic screening including nasal endoscopy, chest CT, cranial MRI, and abdominal ultrasound showed no evidence of arteriovenous malformations in the lungs, brain, liver, or other critical organs. The general practitioner formulated an individualized long-term management strategy including health education, symptomatic treatment, and regular follow-up. This case highlights the importance of clinical vigilance for rare hereditary diseases such as HHT in patients with recurrent epistaxis. As health gatekeepers, general practitioners play an irreplaceable role in early identification, appropriate referral, integration of examination results, and lifelong follow-up. Establishing a regional management network led by general practitioners is crucial to improve prognosis and quality of life in these patients.