Hereditary Angioedema in Europe

Hereditary angioedema is a disease that causes chronic inflammation attacks. There is a specific gene deficiency which causes bradykinin a chemical involved in vascular permeability to be increased. This disease occurs in 1:50,000 people across the world and in Europe.  This rare disease is very difficult to diagnose because the symptoms of hereditary angioedema look like many other symptoms of angioedema. Because of the difficulty to diagnose the disease there is typically a “diagnostic delay of 2.0 years [0.0–62.0] (Germany) to 15.0 years [0.0–57.0] (Italy)” (Zanichelli). The article states that between various countries in Europe there is a mean delay in diagnosis of 8.5 years. Some biological aspects of this disease can be vary scary. Without being diagnosed properly people with hereditary angioedema have a greater risk for asphyxiation. Social and cultural dimensions of the illness include unplanned edema flare ups in public. This disease is not something that is not all around the world but this article only evaluated delay of diagnosis in European countries. In order to diagnose hereditary angioedema you have to look at the family tree and also the gene for C1-inhibitor. This gene could be low or over productive so physicians need to test this in order to diagnose patients with the disease. One thing about hereditary angioedema that is unfortunate is that at this time there is no cure for the disease. The only way that patients cope with hereditary angioedema is using steroids and other medications to control the attacks and the swelling. Risks associated with misdiagnosis can be unnecessary surgeries being performed, for example,  with abdominal edema there can be many things that doctors would assume. This disease hits close to home for me because I have many family members who have been diagnosed with this disease. When I was a child I was tested and was told that I did not have an abnormal C1-inhibitor gene but it still worries me. My grandmother had this and was having an episode of edema of the abdomen and doctors did perform unnecessary surgery on her. This caused her to catch MRSA in the hospital. 


Zanichelli, A, M Magerl, H Longhurst, V Fabien, and M. Maurer. “Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe.” Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology9. (accessed July 15, 2014).

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