title: [Hereditary angioedema in Medellín (Colombia): Clinical evaluation and quality of life appraisal].
abstract: BACKGROUND
  Hereditary angioedema is an autosomal dominant primary immunodeficiency caused by a deficiency of the C1 inhibitor protein and characterized by recurrent episodes of subcutaneous and mucosal edema. Unpredictable and frequent crisis of angioedema affect the quality of life of individuals suffering this kind of disorder.
  
  
  OBJECTIVE
  To analyze the clinical characteristics of a family with an index case of hereditary angioedema and to determine the impact of this disease on their quality of life.
  
  
  METHODS
  Twenty six members of the family were included in the trial; 25 of them were analyzed for C4 complement and antigenic and functional C1 inhibitor blood levels. Two instruments (SF-365 and KIDSCREEN-27) were used to evaluate adult health quality and children and teenagers quality of life, respectively.
  
  
  RESULTS
  Eighty three percent (83%) of individuals reporting symptoms of the condition exhibited serological criteria of hereditary angioedema type I: low levels of both C4 complement and quantitative (antigenic) and qualitative (functional) C1 inhibitor. In relation to patients' psychological and emotional performance, their quality of life was significantly affected by the symptoms of hereditary angioedema.
  
  
  CONCLUSIONS
  This study provides evidence of the first family in Valle de Aburrá (Colombia) characterized as having hereditary angioedema type I. Despite the use of a generic instrument, the negative impact on the quality of life of individuals suffering this disease was also confirmed.
authors: Grupo de Alergología Clínica y Experimental, Universidad de Antioquia, Medellín, Colombia.
authors: María Dulfary
authors: MD
authors: Sánchez
authors: Grupo de Alergología Clínica y Experimental, Universidad de Antioquia, Medellín, Colombia.
authors: Julián
authors: J
authors: Cuervo
authors: Grupo de Alergología Clínica y Experimental, Universidad de Antioquia, Medellín, Colombia.
authors: Deisi
authors: D
authors: Rave
authors: Grupo de Alergología Clínica y Experimental, Universidad de Antioquia, Medellín, Colombia.
authors: Gustavo
authors: G
authors: Clemen
authors: Grupo de Alergología Clínica y Experimental, Universidad de Antioquia, Medellín, Colombia.
authors: Juan José
authors: JJ
authors: Yepes-Núñez
authors: Grupo de Inmunología Celular e Inmunogenética, Universidad de Antioquia.
authors: Blanca
authors: B
authors: Ortiz-Reyes
authors: Grupo de Alergología Clínica y Experimental, Universidad de Antioquia, Medellín, Colombia.
authors: Sara
authors: S
authors: Sus
authors: Grupo de Alergología Clínica y Experimental, Universidad de Antioquia, Medellín, Colombia.
authors: Ricardo
authors: R
authors: Cardona
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003105:Colombia / Q000453:epidemiology; D003174:Complement C1 Inactivator Proteins / Q000032:analysis; D050718:Complement C1 Inhibitor Protein; D003181:Complement C4 / Q000032:analysis; D004644:Emotions; D005192:Family Health; D005260:Female; D056829:Hereditary Angioedema Types I and II / Q000453:epidemiology* / Q000235:genetics / Q000276:immunology / Q000523:psychology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011446:Prospective Studies; D011788:Quality of Life; D063189:Symptom Assessment; D055815:Young Adult
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D003181:Complement C4; C469952:SERPING1 protein, human