Hereditary angioedema type I: a case report

• Published in: Medwave Vol. 16; no. 1; p. e6378
• Main Authors: Muñoz Peralta, Francisca, Buller Vigueira, Eva, Cabello Pulido, Juana
• Format: Journal Article
• Language: English; Spanish
• Published: Chile Medwave Estudios Limitada 28.01.2016
• Subjects: Adolescent; alpha 1-Antitrypsin Deficiency - diagnosis; complement C1 inhibitor protein; Complement C1 Inhibitor Protein - administration & dosage; diagnoses; hereditary angioedema type; Hereditary Angioedema Types I and II - diagnosis; Hereditary Angioedema Types I and II - therapy; Humans; Male; hereditary angioedema type I; complement C1 inhibitor protein; diagnoses
• ISSN: 0717-6384; 0717-6384
• DOI: 10.5867/medwave.2016.01.6378

Hereditary angioedema is a rare disease with great heterogeneity of symptoms such as edema of the skin, gastro-intestinal mucosa and larynx or pharynx. Even though there are three types, the most frequent is type I, which is a result from a deficiency of the complement C1 inhibitor. The severity of its symptoms along with the low prevalence of the disease and the need for appropriate specific treatment make the diagnosis and treatment of the pathology an outstanding subject for the family physician. The present is the case of a male teenager with alpha-1 antitrypsin deficiency since he was six months old, angioedema on arms and legs since 11 years old and diagnosed with hereditary angioedema type I one year after. The definitive diagnosis of the disease enabled an appropriate treatment which consists in preventing outbreaks that may compromise the patient's life and, if they occur, administration of complement C1 inhibitor.