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It can take eight years to diagnose this disease. Here are the symptoms
Have you ever heard of hereditary angioedema? It affects between 200 and 300 people in Portugal.
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Not many people know about hereditary angioedema. However, it is a rare genetic disease that affects between 200 and 300 people in Portugal and whose delays in diagnosis are alarming. This is because the symptoms are often misinterpreted, such as abdominal pain, confused with appendicitis, which results in unnecessary surgeries, or edema, seen as an allergy.
According to the International Hereditary Angioedema Association (HAE International), the diagnosis can take more than eight years. This makes it an under-recognized, under-diagnosed and, therefore, under-treated disease.
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Symptoms of hereditary angioedema include episodes of swelling (edema) in various parts of the body, including hands, feet, face, and airways, which can lead to death by asphyxiation. To this are added attacks of abdominal pain, nausea, and vomiting caused by swelling in the intestinal wall.
Patients are known to have a defect in the gene that controls a blood protein called C1 inhibitor, which has the role of helping to regulate the complex biochemical interactions of the blood systems involved in fighting disease, in the inflammatory response, and in coagulation. Because the defective C1 inhibitor does not adequately perform its regulatory function, this can result in the appearance of edema. Therefore, people with this disease often report attacks of swelling that affect various parts of the body and that, without treatment, can last between two to five days.
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This swelling is usually also associated with the presence of allergies, but it cannot be treated as an allergic reaction and is even disfiguring and can be extremely painful and disabling, to the point of preventing participation in normal daily activities.
These patients also have higher levels of depression and anxiety due to the unpredictable nature of the attacks, the potential for asphyxiation due to swelling in the throat, and the possibility of passing on the disease to future generations.
Although there is no cure, this is a problem whose available treatments can help prevent the onset of symptoms and effectively control attacks. However, HAE International confirms that the most innovative drugs are not yet consistently available to everyone.
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