Presentation
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. [ncbi.nlm.nih.gov]
Skin
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Angioedema
US Hereditary Angioedema Association Medical Advisory Board 2013 recommendations for the management of hereditary angioedema due to C1 inhibitor deficiency. J Allergy Clin Imunol Pract. 2013;1(5):458-467. [scielo.org.mx]
KEYWORDS: complement C1 inhibitor protein; diagnoses; hereditary angioedema type I [ncbi.nlm.nih.gov]
Treatment
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. [ncbi.nlm.nih.gov]
The effect of long-term danazol treatment on haematological parameters in hereditary angioedema. Orphanet J Rare Dis. 2016;11:18. DOI: [ Links ] Zuraw BL. Hereditary Angioedema. N Engl J Med. 2008;359:1027-1036. [scielo.org.mx]
Prevention
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. [ncbi.nlm.nih.gov]