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A C1 inhibitor causes a Hereditary Angioedema (HAE) episode, which causes swelling on the face, feet, hands, and other body parts.

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A C1 inhibitor causes a Hereditary Angioedema (HAE) episode, which causes swelling on the face, feet, hands, and other body parts.

Hereditary angioedema is a hereditary illness that affects at least one family member who also suffers from asthma or allergies on a regular basis. An aberrant immune response to allergens such as dust and pollen causes it. This causes abnormal fluid buildup inside blood vessels, blocking normal fluid or blood circulation through veins and causing rapid swelling of different tissues in the feet, hands, lower legs, face, neck, and other airway regions. Edema can occur as a result of the fluids, which can be unpleasant or irritating. Hereditary angioedema can harm key organs if left untreated.

Symptoms of hereditary angioedema can appear in infancy or maturity, although they tend to grow more common and severe as people become older. Furthermore, the symptoms may be present in the presence of other chronic health disorders such as asthma, chronic skin diseases, and skin infections. Symptoms can still appear even if the main cause is not diabetes or another hereditary illness.

Hereditary angioedema type I is frequently caused by a defective gene, such as the HLA-DR4A gene. The vessels are unable to contract or do not contract adequately to avoid swelling in this situation. Hereditary angioedema type II, on the other hand, is caused by a mutation in the lipase gene, which is responsible for breaking down lipids within fat cells. Not only do the fatty deposits in this example fail to compress correctly, but they also begin to soak up and overflow, resulting in the elevated areas of skin. This is a rare genetic condition.

There is also a rare type of hereditary angioedema in which the blood vessels have an excess of co-inhibitor protein. A person with high amounts of co-inhibitor protein in their blood vessels has greater edema than someone with normal levels of co-inhibitor protein. Doctors can't tell if the extra protein is the source of the illness or if it's a sign of another condition. In any event, there is no recognized treatment for this type of angioedema.

 

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