The Challenges in the Follow-Up and Treatment of Brazilian Children with Hereditary Angioedema

Int Arch Allergy Immunol. 2021;182(7):585-591. doi: 10.1159/000512944. Epub 2021 Jan 28.

Abstract

Introduction: Hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency is a rare autosomal dominant disease. Although the first symptoms can appear in childhood, the diagnosis's delay has a strong impact on the patient's quality of life. We analyzed clinical and laboratory characteristics and the drug therapy of pediatric patients with HAE in Brazil.

Methods: Medical records from 18 reference centers of HAE patients under 18 years of age were evaluated after confirmed diagnosis was performed by quantitative and/or functional C1-INH.

Results: A total of 95 participants (51 M:44 F; mean age: 7 years old) out of 17 centers were included; 15 asymptomatic cases were identified through family history and genetic screening. Angioedema attacks affected the extremities (73.5%), gastrointestinal tract (57%), face (50%), lips (42.5%), eyelids (23.7%), genitals (23.7%), upper airways (10%), and tongue (6.3%). Family history was present in 84% of patients, and the mean delay in the diagnosis was 3.9 years. Long-term prophylaxis (51/80) was performed with tranexamic acid (39/80) and androgens (13/80); and short-term prophylaxis (9/80) was performed with tranexamic acid (6/80) and danazol (3/80). On-demand therapy (35/80) was prescribed: icatibant in 7/35, fresh frozen plasma in 16/35, C1-INH plasma-derived in 11/35, and tranexamic acid in 12/35 patients.

Conclusions: This is the first study on HAE pediatric patients in Latin America. Clinical manifestations were similar to adults. Drugs such as androgens and tranexamic acid were indicated off-label, probably due to restricted access to specific drugs. Educational programs should address pediatricians to reduce late diagnosis and tailored child therapy.

Keywords: Brazilian patients; C1 inhibitor deficiency; Child; Hereditary angioedema.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anaphylaxis / etiology
  • Angioedemas, Hereditary / diagnosis
  • Angioedemas, Hereditary / epidemiology*
  • Angioedemas, Hereditary / therapy
  • Brazil / epidemiology
  • Child
  • Child, Preschool
  • Delayed Diagnosis
  • Disease Management
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Public Health Surveillance
  • Quality of Life