Abstract

LOPEZ, Ana L.; ORTUNO CRESPO, Cinthia J.  and  FERNANDEZ ROMERO, Diego S.. Hereditary angioedema. Diagnosis in an asymptomatic elderly woman. Medicina (B. Aires) [online]. 2021, vol.81, n.4, pp.645-648. ISSN 0025-7680.

Hereditary angioedema (HAE) is a rare disease with an autosomal dominant heredity pattern, due to mutations in the gene encoding the C1 esterase inhibitor. The onset of symptoms usually occurs during childhood. Clinically, it is characterized by repeated episodes of angioedema that may affect the skin, abdomen and larynx/pharynx. The occurrence of attacks and their severity are unpredictable and can be fatal without the appropriate treatment. We present the case of an asymptomatic 65-year-old woman, with a history of three adult children diagnosed with HAE. Despite the high probabilities of being a carrier of the mutation, she had not been previously studied. Diagnosis of HAE in a family member would require screening of all at-risk relatives. Early diagnosis is essential to establish a correct and timely therapeutic strategy in order to reduce the morbidity and mortality associated with the disease.

Keywords : Hereditary angioedema; Type 1; Asymptomatic; Family screening.

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