What Is Hae Disease?
Hereditary angioedema (HAE) is a rare genetic condition that affects an estimated 1 in 50000 people. It is characterized by recurrent episodes of swelling in various parts of the body including the face extremities gastrointestinal tract airways.
Symptoms of HAE Disease
Typically HAE attacks can last anywhere from a few hours to several days can be quite painful. Symptoms may include:
– Swelling in the face lips tongue throat or other parts of the body
– Abdominal pain nausea vomiting or diarrhea
– Difficulty breathing or swallowing
HAE symptoms can vary greatly from person to person can be unpredictable in terms of frequency severity duration. Some people may experience only mild symptoms while others may suffer from frequent incapacitating attacks.
Causes of HAE Disease
HAE is caused by a genetic mutation that affects the production of a protein called C1 inhibitor. This protein is important in regulating the immune system preventing excess swelling inflammation. Without enough functional C1 inhibitor the body can produce too much of another protein called bradykinin which leads to swelling inflammation.
HAE can be inherited in an autosomal dominant pattern which means that an affected person has a 50% chance of passing on the condition to each of their children.
Treatment of HAE Disease
Although there is currently no cure for HAE there are treatments available to help manage symptoms prevent attacks. These include:
– Medications called C1 inhibitor replacement therapies which can help restore the proper balance of proteins in the body
– Medications known as bradykinin receptor antagonists which can block the effects of excess bradykinin reduce swelling
– Anti-inflammatory medications or pain relievers to help manage symptoms during an attack
People with HAE should also be aware of their triggers such as stress illness or certain medications try to avoid them as much as possible.
Although HAE can be a difficult condition to manage there are effective treatments available that can help alleviate symptoms improve quality of life. If you or someone you know is experiencing recurrent swelling or other symptoms that may be related to HAE it is important to seek medical attention to get an accurate diagnosis appropriate treatment.
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