[Hereditary angioedema. Family history and clinical manifestations in 58 patients]

Medicina (B Aires). 2009;69(6):601-6.
[Article in Spanish]

Abstract

Hereditary angioedema (HAE) is a rare autosomal dominant disease, characterized by episodes of edema typically involving the skin, gastrointestinal tract and larynx. We here describe the epidemiologic and clinical characteristic of a series of 58 patients with diagnosis of HAE, 53 (91%) type I and 5 (9%) type II. The mean age at first symptom was 10.8 +/- 9.5 years and the mean age at diagnosis was 25.8 +/- 16.2 years old, with a diagnosis delay of 15.3 +/- 14.3 years. The mean number of attacks in the previous 6 months was 7.4 +/- 7.6 range 0 to 40. Fifty four (93%) had cutaneous attacks, 50 (86%) abdominal attacks, 24 (41%) laryngeal attacks and 24 (41%) combined cutaneous and abdominal attacks. Twenty seven (46.5%) patients never received preventive treatments and 17 (29%) received danazol in different doses for different periods of time. During the attacks, 15 (26%) patients were treated with C1 inhibitor at least once, 7 (12%) with fresh frozen plasma and 40 (69%) received only supportive treatment. Stress and trauma were identified as attacks triggers. Six (10%) patients were first mutation and 52 (90%) had HAE ancestors. We reconstructed 20 kindred, identifying 205 individuals at risk of inheriting the disease, 109 (53 %) of them had signs or laboratory diagnosis of HAE. The total number of identified HAE individuals was 145, 19 (13%) died with asphyxia. So, shortening of diagnosis delay and appropriate treatment of HAE are a challenge to be fulfilled.

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Argentina / epidemiology
  • Asphyxia / mortality
  • Child
  • Complement C1 Inhibitor Protein / genetics
  • Female
  • Hereditary Angioedema Types I and II* / complications
  • Hereditary Angioedema Types I and II* / drug therapy
  • Hereditary Angioedema Types I and II* / epidemiology
  • Hereditary Angioedema Types I and II* / genetics
  • Humans
  • Male
  • Middle Aged
  • Young Adult

Substances

  • Complement C1 Inhibitor Protein