Romero Diego S Fernández, Di Marco Pamela, Malbrán Alejandro
Servicio de Alergia e Inmunología Clínica, Hospital Británico de Buenos Aires, Argentina.
Medicina (B Aires). 2009;69(6):601-6.
Hereditary angioedema (HAE) is a rare autosomal dominant disease, characterized by episodes of edema typically involving the skin, gastrointestinal tract and larynx. We here describe the epidemiologic and clinical characteristic of a series of 58 patients with diagnosis of HAE, 53 (91%) type I and 5 (9%) type II. The mean age at first symptom was 10.8 +/- 9.5 years and the mean age at diagnosis was 25.8 +/- 16.2 years old, with a diagnosis delay of 15.3 +/- 14.3 years. The mean number of attacks in the previous 6 months was 7.4 +/- 7.6 range 0 to 40. Fifty four (93%) had cutaneous attacks, 50 (86%) abdominal attacks, 24 (41%) laryngeal attacks and 24 (41%) combined cutaneous and abdominal attacks. Twenty seven (46.5%) patients never received preventive treatments and 17 (29%) received danazol in different doses for different periods of time. During the attacks, 15 (26%) patients were treated with C1 inhibitor at least once, 7 (12%) with fresh frozen plasma and 40 (69%) received only supportive treatment. Stress and trauma were identified as attacks triggers. Six (10%) patients were first mutation and 52 (90%) had HAE ancestors. We reconstructed 20 kindred, identifying 205 individuals at risk of inheriting the disease, 109 (53 %) of them had signs or laboratory diagnosis of HAE. The total number of identified HAE individuals was 145, 19 (13%) died with asphyxia. So, shortening of diagnosis delay and appropriate treatment of HAE are a challenge to be fulfilled.
遗传性血管性水肿（HAE）是一种罕见的常染色体显性疾病，其特征是出现水肿发作，通常累及皮肤、胃肠道和喉部。我们在此描述了一系列58例诊断为HAE的患者的流行病学和临床特征，其中I型53例（91%），II型5例（9%）。首发症状的平均年龄为10.8±9.5岁，诊断时的平均年龄为25.8±16.2岁，诊断延迟时间为15.3±14.3年。前6个月发作的平均次数为7.4±7.6次，范围为0至40次。54例（93%）有皮肤发作，50例（86%）有腹部发作，24例（41%）有喉部发作，24例（41%）有皮肤和腹部联合发作。27例（46.5%）患者从未接受过预防性治疗，17例（29%）在不同时间段接受了不同剂量的达那唑治疗。发作期间，15例（26%）患者至少接受过一次C1抑制剂治疗，7例（12%）接受过新鲜冰冻血浆治疗，40例（69%）仅接受了支持性治疗。压力和创伤被确定为发作诱因。6例（10%）患者为首次突变，52例（90%）有HAE家族史。我们重建了20个家系，确定了205个有遗传该病风险的个体，其中109例（53%）有HAE的体征或实验室诊断。已确定的HAE个体总数为145例，19例（13%）死于窒息。因此，缩短HAE的诊断延迟并进行适当治疗是一项有待完成的挑战。
