A Ramón Albert, Rodrigo Bonilla Peñarrubia, Carlos Devesa García, A. Soria Aledo, Pedro García Salom
Introduction: Hereditary angioedema (HAE) is a genetic disease caused by a deficiency or dysfunction of C1 esterase inhibitor (C1-INH) characterized by recurrent episodes of angioedema, affecting multiple anatomic locations. Both phenotypic variability and the unpredictability of frequency of HAE attacks are due to inaccurate and/or delayed diagnoses.
A Case report: We describe the case of a 50-year-old patient, who after several episodes of angioedema (mainly on hands and face), is diagnosed with HAE type I. She required urgent treatment with C1-INH concentrates in two occasions. Finally, the patient was set-up for long-term prophylactic therapy with stanozolol.
Conclusion: An early and accurate diagnosis of the disease leads to optimal therapeutic interventions that entail an improvement in the quality of life of patients with HAE
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