What is HAE
Hereditary angioedema is a rare genetic condition that causes swelling beneath the skin and lining of the gut and lungs. The foremost common areas of the body to develop swelling are the face, limbs, airways and intestinal tract. Minor trauma or stress could trigger an attack, however, swelling usually happens without a known trigger. The illness is unique in every individual. Estimates recommend that as many as 1 in 50,000 individuals have HAE.
The main symptom of hereditary angioedema is swelling of the skin that doesn’t cause itchiness that’s experienced intermittently. Symptoms last about two to five days and then slowly decrease. The frequency and period of attacks vary greatly among individuals with hereditary angioedema, even among individuals within the same family. Symptoms most frequently initially show up in childhood and get worse throughout the teenage years. Many folks don’t know that hereditary angioedema is causing their swelling till they’re adults.
There are 3 forms or types of hereditary angioedema. They’re distinguished by laboratory tests and genetic testing. The illness is inherited as an autosomal dominant gene, which means only 1 abnormal gene is needed from a parent for the offspring to inherit the sickness. Type I reduced secretion of C1 inh with low current levels, contains 80% to 85% of cases, Type II normal or sometimes high levels of C1-INH, contains 15% to 20% of cases and Type III caused by a minimum of 3 known gene mutations together with a mutation of the F12 gene, that codes for factor XII and ends up in increased susceptibility of factor XII to activation by plasmin.
The right diagnosis is essential. Sometimes individuals are treated for allergies once it’s really HAE that causes their swelling. Hereditary angioedema is usually tough to diagnose as a result of the irregularity of attacks and because some symptoms mimic alternative diseases. Patients that have a parent with hereditary angioedema have a good chance of inheriting the sickness, therefore the family genetics history is an element of the diagnostic workup if hereditary angioedema is suspected. A serum C4 level is considered a reliable and price economical screening check for hereditary angioedema as a result of it’s nearly always reduced throughout attacks, and generally is low in between attacks.
Treatment of hereditary angioedema (HAE) consists of prevention, management of acute attacks, and prophylactic medical care in situations wherever attacks might occur. Patients with hypotension because of sequestration of fluid within the extravascular space need intravascular fluid replacement might require massive amounts of intravenous fluids to keep up hemodynamic stability. Abdominal pains are treated with medicines. In cases of significant laryngeal edema inflicting respiratory obstruction, intubation or tracheostomy ought to be performed.
Take Care of Yourself
Learn as much as you can regarding HAE, therefore, you can make informed choices about your treatment and medications that you simply should be cautious with. If you’ll discover your triggers, you can better avoid them. It helps to trace your attacks and symptoms in a journal and look for patterns. WeAreHae is the international umbrella organization for the world’s Hereditary Angioedema patient groups. Keep in touch with different HAE patients round the world, and check what international events are coming up. Take care of Yourself!