Coovadia K M, Chothia M-Y, Baker S G, Peter J G, Potter P C
Department of Internal Medicine, Tygerberg Hospital and Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
S Afr Med J. 2018 Mar 28;108(4):283-290. doi: 10.7196/SAMJ.2017.v108i4.12823.
Hereditary angio-oedema (HAE) is an autosomal dominant condition caused by a deficiency in the C1-esterase inhibitor protein, resulting in increased bradykinin release. It presents clinically with recurrent attacks of angio-oedema, commonly affecting the limbs, face, upper airway and gastrointestinal tract. Little is known about this condition in sub-Saharan Africa.
To analyse and report on the clinical presentation and treatment of patients with HAE in the Western Cape Province, South Africa.
A retrospective analysis was conducted on a series of 60 cases of HAE seen between 2010 and 2015 at the Allergy Diagnostic and Clinical Research Unit, University of Cape Town Lung Institute, and the Allergy Clinic at Groote Schuur Hospital, Cape Town. The findings in 43 cases of type 1 HAE are described. Parameters assessed included age, gender, age of diagnosis, duration of illness, family history, identifiable triggers, average duration of attack, number of attacks per year and type of attack.
A total of 43 patients were included in this study. Of these, 65.1% (28/43) were female. The median age at diagnosis was 20 years (interquartile range (IQR) 10 - 27) and the median duration of illness 10.5 years (IQR 6 - 22). Of the patients, 62.8% (27/43), 32.6% (14/43) and 4.7% (2/43) were of mixed ancestry, white and black African, respectively; 51.2% (22/43) were index cases, with the remaining 48.8% (21/43) diagnoses via family member screening, 12 families making up the majority of the cohort. The mean (standard deviation) duration of an acute attack was 49 (25.8) hours, and 64.3% (27/42), 71.4% (30/42), 14.3% (6/42) and 88.1% (37/42) of patients experienced facial or upper airway, abdominal, external genitalia and limb attacks, respectively. Danazol for long-term prophylaxis was used in 21 patients, while C1-inhibitor concentrate (Berinert) was accessed for short-term prophylaxis in only four patients. Acute life-threating attacks were treated with fresh frozen plasma in 11 patients, and only four accessed icatibant. The mortality rate for the period 2010 - 2015 was 4.5% (2/43). The prevalence of HAE in the Western Cape was estimated to be 1:140 000.
HAE occurs in South Africans of all ethnicities, and life-threatening attacks occur in almost two-thirds of patients. Despite limited therapeutic options and very limited access to gold-standard therapies available in the developed world, our mortality rate is very low, with both the deaths related to inability to access emergency treatment rapidly.
遗传性血管性水肿（HAE）是一种常染色体显性遗传病，由C1酯酶抑制蛋白缺乏引起，导致缓激肽释放增加。临床上表现为血管性水肿反复发作，常见于四肢、面部、上呼吸道和胃肠道。在撒哈拉以南非洲地区，对这种疾病了解甚少。
分析并报告南非西开普省HAE患者的临床表现及治疗情况。
对2010年至2015年间在开普敦大学肺部研究所过敏诊断与临床研究室以及开普敦格罗特舒尔医院过敏诊所就诊的60例HAE患者进行回顾性分析。描述了43例1型HAE的研究结果。评估的参数包括年龄、性别、诊断年龄、病程、家族史、可识别的诱发因素、急性发作的平均持续时间、每年发作次数及发作类型。
本研究共纳入43例患者。其中，65.1%（28/43）为女性。诊断时的中位年龄为20岁（四分位间距（IQR）10 - 27），中位病程为10.5年（IQR 6 - 22）。患者中，分别有62.8%（27/43）、32.6%（14/43）和4.7%（2/43）为混血、白人及非洲黑人；51.2%（22/43）为索引病例，其余48.8%（21/43）通过家庭成员筛查确诊，12个家庭构成了研究队列的大部分。急性发作的平均（标准差）持续时间为49（25.8）小时，分别有64.3%（27/42）、71.4%（30/42）、14.3%（6/42）和88.1%（37/42）的患者经历过面部或上呼吸道、腹部、外生殖器及四肢发作。21例患者使用达那唑进行长期预防，仅4例患者使用C1抑制剂浓缩物（贝林耐特）进行短期预防。11例患者使用新鲜冷冻血浆治疗急性危及生命的发作，仅4例患者使用依卡替班。2010年至2015年期间的死亡率为4.5%（2/43）。西开普省HAE的患病率估计为1:140 000。
HAE在南非各民族中均有发生，近三分之二的患者会出现危及生命的发作。尽管治疗选择有限，且很难获得发达国家可用的金标准疗法，但我们的死亡率很低，两例死亡均与无法迅速获得紧急治疗有关。
