Jindal Ankur K, Rawat Amit, Kaur Anit, Sharma Dhrubajyoti, Suri Deepti, Gupta Anju, Garg Ravinder, Dogra Sunil, Saikia Biman, Minz Ranjana W, Singh Surjit
Allergy Immunology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Pediatr Allergy Immunol. 2021 Apr;32(3):599-611. doi: 10.1111/pai.13420. Epub 2020 Dec 5.
There is paucity of literature on long-term follow-up of patients with hereditary angioedema (HAE) from developing countries.
This study was carried out to analyze the clinical manifestations, laboratory features, and genetic profile of 32 patients (21 male and 11 female) from 23 families diagnosed with HAE between January 1996 and December 2019.
Data were retrieved from medical records of Paediatric Immunodeficiency Clinic, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Median age at onset of symptoms was 6.25 years (range 1-25 years), and median age at diagnosis was 12 years (range 2-43 years). Serum complement C4 level was decreased in all patients. All patients had low C1-esterase inhibitor (C1-INH) quantitative level (type 1 HAE). SERPING1 gene sequencing could be carried out in 20 families. Of these, 11 were identified to have a pathogenic disease-causing variant in the SERPING1 gene. While 2 of these families had a previously reported mutation, remaining 9 families had novel pathogenic variants in SERPING1 gene. Because of non-availability of C1-INH therapy in India, all patients were given long-term prophylaxis (attenuated androgens or tranexamic acid (TA) or a combination of the 2). Life-threatening episodes of laryngeal edema were managed with fresh-frozen plasma (FPP) infusions. We recorded one disease-related mortality in our cohort. This happened in spite of long-term prophylaxis with stanozolol and TA.
We report largest single-center cohort of patients with HAE from India. Attenuated androgens, fibrinolytic agents, and FPP may be used for management of HAE in resource-limited settings.
关于发展中国家遗传性血管性水肿（HAE）患者长期随访的文献较少。
本研究旨在分析1996年1月至2019年12月期间来自23个家庭的32例（21例男性和11例女性）诊断为HAE患者的临床表现、实验室特征和基因谱。
从印度昌迪加尔医学教育与研究研究生院儿科免疫缺陷诊所的病历中检索数据。
症状发作的中位年龄为6.25岁（范围1 - 25岁），诊断时的中位年龄为12岁（范围2 - 43岁）。所有患者血清补体C4水平均降低。所有患者C1酯酶抑制剂（C1-INH）定量水平均低（1型HAE）。可对20个家庭进行SERPING1基因测序。其中，11个家庭被鉴定在SERPING1基因中有致病性致病变异。其中2个家庭有先前报道的突变，其余9个家庭在SERPING1基因中有新的致病性变异。由于印度无法获得C1-INH治疗，所有患者均接受长期预防（减毒雄激素或氨甲环酸（TA）或两者联合）。危及生命的喉头水肿发作通过输注新鲜冰冻血浆（FPP）进行处理。我们的队列中记录了1例与疾病相关的死亡。尽管使用司坦唑醇和TA进行了长期预防，但仍发生了死亡。
我们报告了来自印度的最大单中心HAE患者队列。在资源有限的环境中，减毒雄激素、纤溶药物和FPP可用于HAE的管理。
