Muna Nidal D, Ahmed Taimeh A, Madaka Seham K, Nimer Tareq Z, Hamdan Shatha I, Ghaith Sara N, Alshaer Tamara J, Naqib Mohammad
Faculty of Medicine, Al-Quds University, Abu Dis, PSE.
Paediatrics, Palestine Medical Complex, Ramallah, PSE.
Cureus. 2024 Jan 15;16(1):e52291. doi: 10.7759/cureus.52291. eCollection 2024 Jan.
Hereditary angioedema (HAE) is an uncommon autosomal dominant disorder, characterized by episodes of oropharyngeal, gastrointestinal, and subcutaneous tissue swelling, often accompanied by discomfort. HAE is primarily associated with mutations in the SERPING1 gene, resulting in insufficient levels or impaired function of C1 esterase inhibitor (C1-INH), an important regulatory protein of the complement system. While types 1 and 2 HAE are well-established entities caused by quantitative and qualitative defects in C1-INH, respectively, the emergence of type 3 HAE, also known as estrogen-dependent HAE, has expanded our understanding of this complex disorder. In this case, a 2-year-old girl with Down syndrome visited the ER after experiencing lip and tongue swelling following the ingestion of ground pepper. Her laboratory results showed that her complement levels were within normal limits despite clinical symptoms. This situation leads to the specific variant of hereditary angioedema called hereditary angioedema with a normal C1 esterase inhibitor (HAE-NI-C1-INH). Although there are currently no approved treatments, positive responses have been seen to her use of C1-INH concentrate and tranexamic acid to alleviate both immediate and delayed symptoms.
遗传性血管性水肿（HAE）是一种罕见的常染色体显性疾病，其特征为口咽、胃肠道和皮下组织肿胀发作，常伴有不适。HAE主要与SERPING1基因突变有关，导致补体系统的重要调节蛋白C1酯酶抑制剂（C1-INH）水平不足或功能受损。虽然1型和2型HAE分别是由C1-INH的数量和质量缺陷引起的已明确的疾病，但3型HAE（也称为雌激素依赖性HAE）的出现扩展了我们对这种复杂疾病的认识。在这个病例中，一名患有唐氏综合征的2岁女孩在摄入胡椒粉后出现嘴唇和舌头肿胀，随后前往急诊室就诊。她的实验室检查结果显示，尽管有临床症状，但她的补体水平在正常范围内。这种情况导致了遗传性血管性水肿的一种特殊变体，称为C1酯酶抑制剂正常的遗传性血管性水肿（HAE-NI-C1-INH）。虽然目前尚无批准的治疗方法，但使用C1-INH浓缩物和氨甲环酸来缓解即时和延迟症状已见积极效果。
