Epidemiological Analysis for Hereditary Angioedema Disease

Hereditary Angioedema (HAE) is a rare autosomal dominant disorder characterized most commonly by deficient (type 1) or nonfunctional (type 2) C1 inhibitor protein (encoded by SERPING1 gene). The disorder is associated with episodes of angioedema of the face, larynx, lips, abdomen, and extremities. The angioedema is caused by the activation of the kallikrein-kinin system that leads to the release of vasoactive peptides, followed by edema, which in severe cases can be life threatening.

Gastrointestinal involvement occurs in 93% of patients with HAE and may be the only manifestation of the disease. However, individuals with gastrointestinal symptoms are rarely considered for HAE and the disease can be misdiagnosed for several years.

EHA study focuses on the gastrointestinal complications of HAE as a potential area of misdiagnosis leading to surgical morbidity. Aim of the study is to investigate the prevalence of HAE among participants experiencing recurrent abdominal pain attacks with no clear etiology. The HAE-positive samples in the study will be further analyzed biochemically to identify disease-specific biomarker that may support the development of new diagnostic tools for HAE disease.

Inclusion criteria

• Informed consent will be obtained from the participant or the parent or legal guardian
• Participants with previous episodes of abdominal pain of no obvious etiology
• Participants aged between 2 to 60 years old

Exclusion criteria

• Previous diagnosis of HAE
• Inability to provide informed consent
• The etiology of abdominal pain attacks is determined
• Participants that are younger than 2 years old or older than 60 years old
• Previous enrolled in the study