Epidemiological analysis for Hereditary Angioedema disease (EHA Study)

HAE is an autosomal dominant inherited disorder that is often under- or misdiagnosed. Recurrent abdominal pain attacks, which are sometimes the only manifestation of the disease, may be mistaken for other conditions, such as psychiatric disorders or appendicitis – resulting in unnecessary medical and surgical procedures.

The disease is usually not diagnosed until late adolescence, and undiagnosed individuals may have frequent abdominal pain episodes that may impair their quality of life. The EHA study will help in providing an early diagnosis of such individuals, and thus update the prevalence of HAE. Moreover, the biochemical analyses carried out on HAE-positive samples will further support the development of new diagnostic tools for HAE.

Participants fulfilling the eligibility criteria may be enrolled in the Study. All participants will have a single blood sample drawn (around 1ml). This will be applied to a CentoCard^®, which will be sent to CENTOGENE and analyzed at CENTOGENE’s specialized laboratories for HAE. The diagnostic workflow is a two-step approach: In the first step, the complement proteins are quantified by tandem mass spectrometry, and in the second step, the results are confirmed by genetic analyses. The biochemical results are thus genetically confirmed via Next Generation Sequencing of the SERPING1 gene, and when necessary, Multiplex Ligation-dependent Probe Amplification (MLPA) is performed to identify large deletions or duplications.

CENTOGENE will contact the study doctor to inform them about the test results. Only participants diagnosed with HAE will be informed by their study doctor. If the subject is not contacted by the study site within one month, the results can be considered negative.