[Atypical presentation of hereditary angioedema. A report of a case and literature review].
Hereditary angioedema is an uncommon disorder mainly caused by defects of the gene for C1 inhibitor. These patients present recurrent edema episodes in the different regions of the body, including larynx edema in some cases. Low plasma levels of C1 inhibitor confirm the diagnosis. It is important to establish an early diagnosis and prompt treatment to this disorder due to its potential of fatal consequences and multiple alterations in the quality of life that have been associated with. The indicated treatment is substitutive therapy of C1 inhibitor concentrate. We present the case of a patient a 27 year-old female with a history of seven years of evolution, with daily periorbital, upper and lower extremities and labial edema episodes who was classified as C1 inhibitor deficiency type II. She began treatment with attenuated androgens in progressive increased doses with poor response, appearing torpid evolution without a favorable response. This case corresponds to a very atypical presentation of C1 inhibitor deficiency with daily symptoms, unlike the typical intermittent course of the classic disease.
García Cobas
Cecilia Yvonne
CY
Centro Regional de Alergia e Inmunologia Clínica, Hospital Universitario Dr. José E. González, UANL, Monterrey, Nuevo León. cecyvonnedr@hotmail.com
González Díaz
Sandra N
SN
Arias Cruz
Alfredo
A
Weinman
Alejandra Macías
AM
Zárate Hernández
María del Carmen
Mdel C
D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D000799:Angioedema / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D018926:Anti-Allergic Agents / Q000627:therapeutic use; D002908:Chronic Disease; D050718:Complement C1 Inhibitor Protein / Q000032:analysis / Q000235:genetics*; D003181:Complement C4 / Q000172:deficiency; D003613:Danazol / Q000009:adverse effects / Q000627:therapeutic use; D004351:Drug Resistance; D005143:Eyelids / Q000473:pathology; D005148:Facial Dermatoses / Q000235:genetics / Q000276:immunology; D005260:Female; D005756:Gastritis / Q000150:complications; D016481:Helicobacter Infections / Q000150:complications; D016480:Helicobacter pylori; D006801:Humans; D010641:Phenotype; D014770:Virilism / Q000139:chemically induced
D018926:Anti-Allergic Agents; D050718:Complement C1 Inhibitor Protein; D003181:Complement C4; D003613:Danazol