HEREDITARY ANGIOEDEMA (HAE) belongs to a group of very rare, life-threatening diseases occurring in approximately 1 out of 10,000 to 1 out of 50,000 people.

HAE symptoms include swelling of various body parts such as hands, legs, face and the respiratory system. Patients also experience frequent abdominal pain, vomiting and diarrhea. Swelling of the airways is particularly dangerous as it can lead to suffocation and death.

HAE patients have a defective gene responsible for controlling a blood protein called C1 inhibitor. This defect causes a deficiency or dysfunction of the C1 inhibitor. The function of the C1 inhibitor is to assist in regulating complex biochemical interactions in the circulatory system, responding to inflammatory processes, disease and coagulation. In patients with a deficiency or dysfunction of the C1 inhibitor, there is a disruption in its regulatory function and a biochemical imbalance. This results in the release of peptides that cause fluid to leak out of capillaries into the surrounding tissue and consequently resulting swelling.

HAE IS A HEREDITARY DISEASE. . Children have a 50% chance of inheriting the disease from their parents, but the disease can also occur in patients with no recorded family history. According to the latest scientific research, spontaneous gene mutations occur in 20% of HAE cases, and unfortunately, those patients can pass on the defective gene to their offspring. Since this disease is rare, patients often go undiagnosed for a long time. Because of frequent abdominal pain, patients are sometimes incorrectly diagnosed with psychosomatic disorders and are referred for a psychiatric evaluation. Additionally, patients with such pain are often subjected to unnecessary abdominal surgeries.

Before an adequate therapy was found, the mortality rate among HAE patients was 30%.