What is hereditary angioedema?
Hereditary angioedema or HAE is a genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Because of a change in the SERPING1 gene, people with HAE are deficient in a protein called C1 inhibitor (HAE type 1), or have normal or elevated levels of this protein, but the protein does not function properly (HAE type II). Because they lack enough functional levels of this protein, people with HAE have repeated episodes of inflammation and swelling. This swelling is like the swelling seen in an allergic reaction. However, unlike an allergic reaction, there is usually no skin rash or itching. Swelling can occur in the face, hands, feet, eyelids, lips, tongues, and the mucous membrane lining the gastrointestinal tract. Less often, swelling can also affect the throat or upper airways; these episodes can sometimes cause life-threatening complications. The specific symptoms depend upon what areas of the body are affected during an episode. The disorder can affect people very differently. Some people may only have very few episodes or symptoms, while others have repeated, severe episodes of swelling. Episodes usually last 2-5 days and go away on their own without treatment. However, there are several drugs available to treat rapid, severe episodes of HAE, and some people may need preventive treatment. Specific treatments for people with HAE will differ. People with HAE should work with their physicians and entire medical team to develop an individualized treatment plan that is best for them.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hereditary-angioedema/overview/61221 • DATE UPDATED: 2017-03-27
Hereditary Angioedema. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/hereditary-angioedema
Longhurst H, Cicardi M. Hereditary angio-oedema. Lancet. 20124;379(9814):474-81. http://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(11)60935-5.pdf
Physician's Guide Hereditary Angioedema (HAE). The National Organization for Rare Disorders website. http://nordphysicianguides.org/wp-content/uploads/2012/02/HAE_3_8.pdf