Short summary

The current identification and treatment of non-histaminergic angioedema is suboptimal and therefore we want to create a platform for research in this potentially life-threatening disease.

We are uniting forces of clinicians and pharmacogeneticists, creating a unique international environment for research and talent development in angioedema. Our ambitions are to obtain a better classification of angioedema patients, tailor treatments for the direct benefit of patients and contribute new insight into the molecular and genetic pathology of angioedema at the highest international level.

Rationale

Angioedema is a common disease with swelling of skin and submucosa which may become life-threatening, if the upper airways get involved. Angioedema has become the most frequent cause of hospital admissions of all acute allergy-like non-asthmatic diseases. However clear and coherent descriptive epidemiological studies on different kinds of angioedema are lacking.

Histamin-mediated angioedema, often associated with urticaria and rarely with anaphylaxis, is well-known among physicians and emergency staff. It can be treated with traditional anti-allergic medication such as antihistamines, corticosteroids and eventually adrenaline. The increased use of ACEi seems to be the main cause for the increasing rate of non-histaminergic angioedema also in Denmark. The pathogenetic background of these cases of angioedema is currently being unravelled and it seems as though most, if not all, are mediated by bradykinin, a potent vasoactive molecule produced in the body. Next generation sequencing (NGS) is a revolutionary new method for targeted sequencing of protein coding regions of the genome (Exome Sequencing) and has proven to be an effective diagnostic approach for the identification of disorders with a potential genetic predisposition i.e. ACEi-mediated angioedema. In our study we identify patients with ACEi-mediated angioedema and genotype them.

Description of the cohort

People over 18 in treatment with ACEi, who expierience angioedema.

Data and biological material

Biological material (blood)

Questionnaire data and/or clinical data (relevant medical data)

Register data

Additionally, 40 saliva samples are stored in Uppsala, Sweden.

Collaborating researchers and departments

Department of Otolaryngology, Head & Neck Surgery, Rigshospitalet, University hospital of Copenhagen

• Senior House Officer Eva Rye Rasmussen
• Professor Christian von Buchwald, PhD, DMSc

Department of Dermatology and Allergy Centre I, Odense University Hospital

• Associate professor Anette Bygum, MD

Department of Otolaryngology, Head & Neck Surgery, Koege University Hospital

• Professor Preben Homøe, MD, PhD, DMSc

Department of Clinical Pharmacology, Odense University Hospital

• Professor Jesper Hallas, MD, PhD, DMSc

Department of Medical Sciences, Clinical pharmacogenomics and osteoporosis,Uppsala University Hospital, Sweden

• Associate professor and Supervisor of genetic tests Mia Wadelius