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Revista Portuguesa de Medicina Geral e Familiar
Print version ISSN 2182-5173
Abstract
SANTOS, Filipa Rodrigues dos; FALCAO, Inês and CUNHA, Leonor. Hereditary angioedema with normal C1-inhibitor levels: a rare case report. Rev Port Med Geral Fam [online]. 2024, vol.40, n.2, pp.170-172. Epub Apr 30, 2024. ISSN 2182-5173. https://doi.org/10.32385/rpmgf.v40i2.13745.
Hereditary angioedema (HAE) is a rare, hereditary disease and its manifestations may be life-threatening. It differs from histaminergic angioedema since it shows different underlying mechanisms and, therefore, does not respond to antihistamine or adrenaline treatment. The authors present a case of hereditary angioedema to highlight the importance of prompt referral to the allergy and clinical immunology for further evaluation and correct diagnosis in case of suspicion of this entity.
Keywords : Hereditary angioedema; Normal C1-inhibitor; FXII gene.