Hereditary angioedema
Hereditary Angioedema
Hereditary angioedema (HAE) is a rare, genetic disorder characterized by recurrent episodes of severe swelling (angioedema). The swelling most commonly affects the skin, gastrointestinal tract, and the airways.
Pronunciation
Hereditary angioedema is pronounced as həˌredəˌterē anˌjēōˈēdəmə.
Etymology
The term "Hereditary angioedema" is derived from the following roots: "Hereditary" comes from the Latin word "hereditas" meaning inheritance, and "angioedema" is derived from the Greek words "angeion" (vessel) and "oedema" (swelling).
Symptoms
The main symptom of HAE is swelling that occurs suddenly and can affect any part of the body. The most common areas affected are the face, limbs, gastrointestinal tract, and airways.
Causes
HAE is caused by a mutation in the SERPING1 gene. This gene provides instructions for making a protein called C1 inhibitor, which helps control inflammation. Mutations in the SERPING1 gene lead to a shortage of functional C1 inhibitor, which allows for uncontrolled inflammation and increased fluid leakage from blood vessels, leading to the characteristic swelling of HAE.
Diagnosis
Diagnosis of HAE involves a series of blood tests to measure the levels and functionality of the C1 inhibitor protein. Genetic testing may also be performed to identify mutations in the SERPING1 gene.
Treatment
Treatment for HAE aims to prevent and alleviate attacks of swelling. This may involve medications to increase levels of functional C1 inhibitor, reduce inflammation, or prevent fluid leakage from blood vessels.
Related Terms
External links
- Medical encyclopedia article on Hereditary angioedema
- Wikipedia's article - Hereditary angioedema
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