Hereditary haemorrhagic telangiectasia (HHT) is supposedly rare in Africa, with only three pathogenic variants documented to date. We describe the clinical and genetic features of HHT patients in central South Africa, who fulfilled the Curaçao criteria. Sixteen patients (median age 38.5 years, range 12–65 years), from six families were included. Fifteen patients were of African descent and one was of Afrikaner descent. The mean epistaxis severity score was 3.18, and the median haemoglobin was 9.5 g/dL (range 3.5–13.5 g/dL). On transthoracic contrast echocardiography 69% had a shunt grade ≥ 1, but only 20% had pulmonary arteriovenous malformations (AVMs) on computed tomography of the chest. Hepatic AVMs were found in 13% of patients, while 13% had brain vascular malformations. Four patients were HIV positive, of whom two had worsening epistaxis while they had opportunistic infections and poor HIV control. We identified six pathogenic variants (four in ENG and two in ACVRL1) in the six probands, three of which had been described previously. Three variants have apparently not been reported previously: ENG c.[1336_1337dup];[ =] p.[(Asp446fs)];[( =)], ENG c.[ 690?_816+?del] p.[(?)], and ACVRL1 c.[268_274delins57];[ =] p.[(Cys90fs)];[( =)]. We confirmed the diagnosis of HHT in sixteen patients and identified pathogenic variants in ENG or ACVRL1 in all six probands in central South Africa, where HHT has been underreported. We describe three pathogenic variants: two of ENG and one of ACVRL1. We will be able to implement pre-symptomatic screening of patients in our area, and improve their management.

据称遗传性出血性毛细血管扩张症（HHT）在非洲很罕见，迄今为止仅记录了三种致病性变体。我们描述了符合库拉索岛标准的南非中部HHT患者的临床和遗传特征。包括六个家庭的16名患者（中位年龄38.5岁，范围12-65岁）。15名非洲人后裔患者，1名非洲人后裔。平均鼻epi严重程度评分为3.18，中位血红蛋白为9.5 g / dL（范围3.5–13.5 g / dL）。经胸超声心动图检查时，有69％的患者分流≥1级，但只有20％的患者在胸部CT上显示肺动静脉畸形（AVM）。在13％的患者中发现了肝AVM，而13％的患者患有脑血管畸形。四名患者是HIV阳性，其中两个在机会感染和艾滋病毒控制不佳的情况下鼻epi恶化。我们确定了六个致病变体（四个ENG和ACVRL1中的两个）在六个先证者中，其中三个已在前面进行了描述。显然以前没有报告过三种变体：ENG c。[1336_1337dup]; [=] p。[（Asp446fs）]; [（=）]，ENG c。[690？_816 +？del] p。[[？]] ，和ACVRL1 c。[268_274delins57]; [=] p。[（Cys90fs）]; [（=）]。我们确认了16例患者的HHT诊断，并在HHT报道不足的南非中部所有六个先证者中确定了ENG或ACVRL1的致病变异。我们描述了三种致病变异：ENG的两个和ACVRL1的一个。我们将能够对本地区的患者进行症状前筛查，并改善他们的管理。