Dangerous swelling: Hereditary Angioedema (HAE)

Dangerous swelling: Hereditary Angioedema (HAE)

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Linda Miller from Houston, Texas, swelled her face until she looked like the bite of the rattlesnakes that were common in her home country, but they were innocent. She suffers from hereditary angiedema (HAE), the acute attacks of which make the blood vessels more permeable, fluid get into the surrounding tissue and clearly visible swellings occur.

A rare illness
HAE rarely occurs, so people with it are easily mistaken for an allergy. Around 1,600 people in Germany suffer from this disease, which has genetic causes: three of Linda's four children also inherit their mother's gene mutation, with one illness per 10,000 to 60,000 people.

Missing protein
The genetic modification means that the body does not produce enough protein and / or this protein does not work. The lack of protein triggers swellings that can affect not only the face but the whole body.

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

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

Detect triggers
Knowledge of the possible triggers is just as important as the care for an acute HAE attack. That can e.g. B. physical exertion, an infection or a certain food.

Painful stretching
Linda Miller says: "The swelling becomes as big as the skin can stretch, the fluid does not stop flowing into the tissue." Depending on where the liquid flows in, the pain increases. Edema in the stomach is particularly bad. According to Linda, it feels like having a child without medication or pulling a tooth without anesthetic.

Live with the disease?
Living with the disease initially means ignorance of what will trigger the next surge. Nevertheless, there are various good treatment options for patients today that alleviate the symptoms and enable an almost normal life.

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

The disease is so unknown that patients often come to the emergency room and the emergency doctor is at a loss until an experienced specialist finally makes the correct diagnosis.

Today's acute attacks can be treated well in an emergency by replacing the missing inhibitor or directly influencing the increased vascular permeability. Another possibility is short-term prophylaxis, e.g. if known triggers are expected.

A C1 esterase inhibitor concentrate derived from human blood plasma provides the missing protein to HAE patients and is injected through a vein. About half an hour later, the preparation begins to take effect, swelling on the larynx is reduced in part after 15 minutes. Another rhC1 esterase inhibitor concentrate is obtained from rabbit milk.

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

Author and source information

Video: New Treatments For Hereditary Angioedema, A Rare Genetic Disease (June 2022).