Hereditary Angioedema (HAE) is a genetic disorder that causes recurrent and severe edema attacks in the body. These attacks manifest themselves with sudden swelling in the subcutaneous tissues, gastrointestinal system and respiratory tract. Edema can cause significant swelling of the tissues and severe pain. Although attacks usually occur spontaneously, in some cases, triggering factors such as stress, infection or trauma can also cause attacks. Therefore, it is important for HAE patients to be careful about triggering factors.
What is Hereditary Angioedema?
Hereditary angioedema is a hereditary disease that causes sudden and severe swelling in the body due to fluid accumulation under the skin and mucosa. These swellings can occur especially in the hands, feet, face, head, neck, eyelids, lips, tongue and genital areas. Swelling in the airways may require emergency intervention as it can cause serious breathing problems.
What causes hereditary angioedema?
As a result of genetic mutations, the molecule called C1 esterase inhibitor found in the blood may be either missing or dysfunctional despite being present.
Although the frequency and severity of attacks vary from person to person, the symptoms of hereditary angioedema are as follows:
- Non-itchy rashes and swellings on certain parts of the body
- Abdominal pain and cramps
- Nausea and vomiting
- Diarrhea
- Headache
- Hoarseness
How is hereditary angioedema diagnosed?
The presence of similar family history, the onset of symptoms usually in childhood, recurrent painful abdominal pain, the absence of urticaria without angioedema, the observation of edema in the upper airways, and the failure to respond to antihistamine, steroid, or adrenaline treatments strengthen the possibility of hereditary angioedema. Hereditary angioedema can be triggered by conditions such as infections, stress, the use of certain hormone medications, or menstrual periods.
In patients with suspected hereditary angioedema, biochemical tests and genetic analyses measuring the level and activity of Complement 4 and C1 esterase inhibitor protein are performed to make the diagnosis.
How is Hereditary Angioedema treated?
The question “What is good for hereditary angioedema?” is often asked. Hereditary angioedema treatment includes the following elements:
- An effective treatment option (attack treatment) should be applied during an attack.
- Long-term prophylaxis should be provided to prevent attacks.
- Short-term prophylaxis should be administered prior to encountering situations requiring medical intervention or known triggers.
In our country, treatment methods such as C1 esterase inhibitor protein replacement, bradykinin receptor (B2R) antagonist, danazol and plasma kallikrein inhibitor are used. It is important that the treatment process is planned and managed specifically for the patient by allergy and immunology specialists.