Department of Clinical Microbiology, Christian Medical College, Vellore, Tamil Nadu, India.
Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.
Indian J Med Microbiol. 2021 Oct-Dec;39(4):509-512. doi: 10.1016/j.ijmmb.2021.03.021. Epub 2021 Apr 29.
Hereditary angioedema (HAE) is a clinical condition which could be fatal if not identified and managed appropriately. Knowledge of this condition is mostly confined to individual case reports and literature reviews in India. In this retrospective study we describe HAE cases which presented to a tertiary care centre in India over a period of three and half years.
Clinical case records of forty-two HAE patients diagnosed based on clinical and laboratory features were accessed after due approval from the Ethics committee. C1 esterase inhibitor (C1 INH) and C4 levels were measured using nephelometry. All relevant data was entered into Microsoft EXCEL worksheet and analysed using simple statistical tools.
Among the 42 patients diagnosed as having HAE, 37 had low C1INH levels and were diagnosed to have type 1 HAE. The remaining 5 had normal C1 INH levels and were considered probable HAE based on family history and response to HAE specific treatment. The median age of onset of symptoms was 15 years (range 5-49) and median age at diagnosis, 27.5 years (range 5-55). The median delay in diagnosis was 10 years (range 1-27 years). Family history of HAE was observed in 52.6% and 29% reported deaths in the family with HAE like disease. Low dose androgens or tranexamic acid or both were prescribed in 64.2% of the patients. Orofacial edema was the commonest clinical presentation (76%) followed by edema of the extremities (38%), GI tract symptoms (19%) and genital involvement (11.9%).
Many cases of HAE may be going undetected in India. There is a need for clinical awareness and laboratory means to accurately identify and administer appropriate treatment.
遗传性血管性水肿（HAE）是一种临床病症，如果不能得到及时诊断和适当治疗，可能会致命。在印度，人们对这种疾病的了解主要局限于个别病例报告和文献综述。在这项回顾性研究中，我们描述了在印度一家三级保健中心就诊的 HAE 病例，研究时间跨度为三年半。
在获得伦理委员会的批准后，查阅了 42 名根据临床和实验室特征诊断为 HAE 的患者的临床病例记录。使用散射比浊法测量 C1 酯酶抑制剂（C1 INH）和 C4 水平。将所有相关数据输入 Microsoft EXCEL 工作表，并使用简单的统计工具进行分析。
在诊断为 HAE 的 42 名患者中，有 37 名患者的 C1INH 水平较低，被诊断为 1 型 HAE。其余 5 名患者的 C1 INH 水平正常，根据家族史和 HAE 特异性治疗的反应，被认为是可能的 HAE。症状发作的中位年龄为 15 岁（范围 5-49 岁），诊断时的中位年龄为 27.5 岁（范围 5-55 岁）。中位诊断延迟时间为 10 年（范围 1-27 年）。52.6%的患者有 HAE 家族史，29%的患者报告有 HAE 样疾病的家族死亡。低剂量雄激素或氨甲环酸或两者联合使用于 64.2%的患者。口面水肿是最常见的临床表现（76%），其次是四肢水肿（38%）、胃肠道症状（19%）和生殖器受累（11.9%）。
在印度，可能有许多 HAE 病例未被发现。需要提高临床认识和实验室手段，以准确识别和给予适当的治疗。
