Hereditary angioedema: 44 years of diagnostic delay

Dermatol Online J. 2016 Apr 18;22(4):13030/qt5cf802wr.

Abstract

We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Complement C1 Inactivator Proteins / genetics
  • Complement C1 Inhibitor Protein
  • Delayed Diagnosis*
  • Hereditary Angioedema Types I and II / diagnosis*
  • Hereditary Angioedema Types I and II / genetics
  • Humans
  • Male
  • Middle Aged
  • Time Factors

Substances

  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein
  • SERPING1 protein, human