Dangerous Swelling Hereditary Angioedema (HAE)

Linda Miller from Houston, Texas, swelled her face until she looked like the bite of rattlesnakes common in her homeland, but they were innocent. She suffers from hereditary angioedema (HAE), in whose acute attacks the blood vessels become more permeable, fluid gets into the surrounding tissue and clearly visible swellings occur.

A rare disease
HAE is rare, and therefore it confuses sufferers easily with an allergy. In Germany, about 1,600 people suffer from this disease, which has genetic causes: Also, three of Linda's four children inherit their mother's gene mutation. Overall, a disease falls to 10,000 to 60,000 people.

The disease is easily confused with an allergy

Missing protein
The gene change causes the body does not produce enough protein and / or this protein does not work. The lack of protein triggers swelling, which can affect not only the face, but the whole body.

symptoms
In hereditary angioedema, the plasma protein C1-esterase inhibitor (abbreviated to C1-INH) is inadequately present. Recurring swellings on the skin and on the mucous membranes (including the internal organs) are the result. There are also cramps, nausea and vomiting when the edema affects the gastrointestinal cycle / digestive tract. In the area of ​​the larynx, there is an acute danger to life because those affected can suffocate.

Various good treatment options
HAE can not be treated like an allergy, because antihistamines and cortisone are completely ineffective and do not help with HAE-related swellings. In acute attacks, a C1-INH concentrate is now administered so that the swelling does not spread further. Linda Miller's swelling was reduced by this treatment within fifteen minutes.

Detect trigger
Just as important as the care in an acute HAE attack is the knowledge about the possible triggers. This can z. B. physical stress, an infection or a particular food.

Painful stretching
Linda Miller says, "The swelling grows as large as the skin can stretch, the fluid does not stop flowing into the tissue." The pain increases as the fluid flows into it. Especially bad are edema in the stomach. According to Linda, this feels like getting a child without medication or pulling a tooth without anesthetic.

Living with the disease?
Living with the disease means initially ignorance about what will trigger the next boost. Nonetheless, there are several good treatment options for patients today that relieve discomfort and enable a more or less normal life.

Recognize HAE
HAE can be diagnosed by a blood test. Unfortunately, many doctors still confuse the symptoms with a different facial swelling, but causes and treatment are very different.

The disease is still so unknown that patients often come to the emergency room and the ambulance is baffled, until finally an experienced professional provides the correct diagnosis.

therapy
The acute attacks today can be treated well in an emergency with the replacement of the missing inhibitor or a direct influence on the increased vascular permeability. Another possibility is the short-term prophylaxis, z. When known triggers are expected.

A C1 esterase inhibitor concentrate derived from human blood plasma supplies HAE patients with the missing protein and is injected through a vein. About half an hour later, the preparation begins to work, swelling of the larynx already decreases in part after 15 minutes. Another rhC1 esterase inhibitor concentrate is derived from rabbit milk.

Also effective is a bradykinin B2 receptor antagonist. This is injected under the skin and stops the swelling because it blocks the tissue hormone bradykinin. (Dr Utz Anhalt)