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Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting

Andrea Zanichelli1, Hilary J Longhurst2, Marcus Maurer3

  • 1Department of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, ASST Fatebenefratelli Sacco, Milan, Italy.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology
|October 16, 2016
PubMed

Insights

Approximately 44% of patients with hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) experience misdiagnosis, often as allergic angioedema or appendicitis. This leads to significant delays in proper treatment for C1-INH-HAE.

Area of Science:

  • Immunology
  • Genetics
  • Rare Diseases

Background:

  • Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is characterized by recurrent swelling episodes.
  • C1-INH-HAE often presents with abdominal pain, skin, and upper airway swelling.
  • Delayed diagnosis of C1-INH-HAE can result in inadequate treatment and unnecessary medical procedures.

Purpose of the Study:

  • To investigate the prevalence and patterns of misdiagnosis in patients with C1-INH-HAE.
  • To analyze the impact of misdiagnosis on the diagnostic timeline for C1-INH-HAE.

Main Methods:

  • Data were collected from the Icatibant Outcome Survey (IOS), an observational study.
  • Patients with C1-INH-HAE (type I or II) reported prior misdiagnoses before their confirmed diagnosis.
  • Misdiagnosis rates were analyzed based on demographics, C1-INH-HAE type, and family history.

Main Results:

  • Of 418 patients, 185 (44.3%) reported at least one prior misdiagnosis.
  • Common misdiagnoses included allergic angioedema (103/185) and appendicitis (50/185).
  • Patients with a family history of C1-INH-HAE had significantly lower misdiagnosis rates (41.7% vs 65.5%).
  • Misdiagnosed patients faced a median diagnostic delay of 13.3 years compared to 1.7 years for correctly diagnosed patients.

Conclusions:

  • Nearly half of C1-INH-HAE patients experience misdiagnosis, frequently as allergic conditions or appendicitis.
  • Misdiagnosis significantly prolongs the time to correct diagnosis and effective treatment for C1-INH-HAE.
  • Early recognition and diagnosis are crucial for timely management and improved patient outcomes.
Abstract

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