一名幼年的女性身体多个部位出现了6个月的短暂肿胀,经常,但并非总是如此,与轻微创伤有关。对于低C4,低CH50,低C1酯酶抑制剂(C1-INH)抗原和低C1-INH功能,有关C1-INH异常的遗传性血管性水肿(HAE)。通过Invitae遗传性血管性水肿小组进行的基因检测显示了SERPING1基因的变体,c.686-7C>G(Intronic),被归类为未知意义的变体,但考虑到患者的临床表现和最近的致病性功能证明,可能是致病性的。即使没有家族史,儿科患者也应认识到HAE。认识到HAE的症状并在儿童早期确认诊断最近作为第一个预防性治疗变得更加重要。lanadelumab,2023年2月被批准用于儿童早期的长期预防,可以显著提高发病率和生活质量。
A female in early childhood presented with 6 months of transient swelling of multiple areas of her body, often, but not always, associated with minor trauma. Labs drawn were significant for low C4, low CH50, low C1 esterase inhibitor (C1-INH) antigen and low C1-INH function, which is concerning for hereditary angioedema (HAE) with abnormal C1-INH. Genetic testing through the Invitae Hereditary Angioedema Panel revealed a variant in the SERPING1 gene, c.686-7C>G (Intronic), which was classified as a variant of unknown significance, but is likely pathogenic given patient\'s clinical presentation and recent functional proof of pathogenicity. HAE should be recognised in paediatric patients even without family history. Recognising the symptoms of HAE and confirming diagnosis in early childhood has become more important recently as the first prophylactic therapy, lanadelumab, was approved in February 2023 for long-term prophylaxis in early childhood, which can significantly improve morbidity and quality of life.