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Published on: August 7, 2017
Hereditary angio-oedema in Denmark: a nationwide survey
1Department of Dermatology and Allergy Centre, Odense University Hospital, University of Southern Denmark, 5000 Odense C, Denmark. anette.bygum@ouh.regionsyddanmark.dk
Insights
Hereditary angio-oedema (HAE) affects 1.41 per 100,000 people in Denmark, with a significant diagnostic delay. Early diagnosis is crucial due to the risk of airway obstruction.
Area of Science:
- Immunology
- Genetics
- Rare Diseases
Background:
- Hereditary angio-oedema (HAE) is a rare genetic disorder caused by C1 inhibitor deficiency.
- Diagnosis is challenging due to diverse clinical presentations.
- A national HAE center was established in 2001 to identify patients.
Purpose of the Study:
- To identify and characterize all HAE patients in Denmark.
- To increase disease awareness among the public and healthcare professionals.
Main Methods:
- Patient recruitment through various healthcare channels and patient organizations.
- Evaluation of medical records and family interviews.
- Dissemination of information via lectures, media, and publication of national guidelines.
Main Results:
- Eighty-two HAE patients were identified, with a mean diagnostic delay of 16.3 years.
- Common symptoms included erythema marginatum (45 patients) and precipitating factors (over 90%).
- Significant morbidity noted: 8 tracheotomies and 11 deaths from HAE in relatives.
Conclusions:
- The minimal prevalence of HAE in Denmark is approximately 1.41 per 100,000.
- Recognizing precipitating factors, rash, and swelling is key for diagnosis.
- Increased awareness and prompt diagnosis are vital to prevent life-threatening airway obstruction.
Background:
Hereditary angio-oedema (HAE) is a rare disease caused by deficiency of complement C1 inhibitor (C1 inhibitor). The diagnosis is challenging as the disease can have a variety of clinical manifestations. In 2001 a national HAE comprehensive care centre was established and a search for these patients was initiated.
Objectives:
To identify and characterize all patients with HAE in Denmark and increase awareness of the disease.
Methods:
Patients were recruited from hospital departments, dermatologists in private practice, Centres for Rare Diseases, the Danish patient organization and the national reference laboratory. Family interviews were conducted and medical records were evaluated. Information was spread through lectures, articles in popular magazines and via television. National guidelines for diagnosis and treatment were published.
Results:
Eighty-two patients were identified. The mean diagnostic delay was 16.3 years. Five patients had HAE type II. Forty-five patients reported a characteristic serpiginous rash (erythema marginatum). More than 90% of patients had noticed precipitating factors before skin and mucosal swellings. Four patients underwent a total of eight tracheotomies and five families recalled 11 relatives who died of HAE.
Conclusions:
The minimal prevalence of HAE in Denmark is approximately 1.41 per 100 000 inhabitants. The risk of upper airway obstruction underlines the importance of diagnosing these patients. Precipitating factors, a preceding or concomitant serpiginous erythema and cutaneous swelling and/or abdominal pain attack and/or laryngeal oedema are clues to the diagnosis. As a consequence of this survey, information has been spread to patients, families and physicians.
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