Hereditary angioedema (HAE) is a rare,autosomal dominant inherited disorder with an incidence of approximately 1 in 50,000.Among its various tapes,HAE with normal C1 inhibitor levels (HAE-nC1-INH)is exceptionally rare...Hereditary angioedema (HAE) is a rare,autosomal dominant inherited disorder with an incidence of approximately 1 in 50,000.Among its various tapes,HAE with normal C1 inhibitor levels (HAE-nC1-INH)is exceptionally rare.^([1]) HAE symptoms include recurrent episodes of skin and mucosal edema that can occur anywhere in the body.^([1-4]) Laryngeal edema is life-threatening,as it can lead to airway obstruction and potentially fatal suffocation.^([1-3])Edema of the gastrointestinal mucosa may cause abdominal pain,vomiting,and symptoms that are often misdiagnosed as acute abdomen.^([1-4]) This study included four patients,including one with HAE-nC1-INH (genetic testing revealed a heterozygous mutation in the KNG1 gene (c.1404G>C:p.Q468H)) and three with HAE due to C1 inhibitor deficiency (HAE-C1-INH).This case series aims to increase knowledge of HAE by illustrating its diverse clinical presentations and emphasizing features that may prompt clinical suspicion and facilitate timely diagnosis.展开更多
基金supported by the National Social Science Fund of China (19VJX168)。
文摘Hereditary angioedema (HAE) is a rare,autosomal dominant inherited disorder with an incidence of approximately 1 in 50,000.Among its various tapes,HAE with normal C1 inhibitor levels (HAE-nC1-INH)is exceptionally rare.^([1]) HAE symptoms include recurrent episodes of skin and mucosal edema that can occur anywhere in the body.^([1-4]) Laryngeal edema is life-threatening,as it can lead to airway obstruction and potentially fatal suffocation.^([1-3])Edema of the gastrointestinal mucosa may cause abdominal pain,vomiting,and symptoms that are often misdiagnosed as acute abdomen.^([1-4]) This study included four patients,including one with HAE-nC1-INH (genetic testing revealed a heterozygous mutation in the KNG1 gene (c.1404G>C:p.Q468H)) and three with HAE due to C1 inhibitor deficiency (HAE-C1-INH).This case series aims to increase knowledge of HAE by illustrating its diverse clinical presentations and emphasizing features that may prompt clinical suspicion and facilitate timely diagnosis.
