What is hereditary angioneurotic edema?
hereditary angioneurotic edema is an unusual genetic state that causes great swelling in different parts of the body. The disorder usually causes childhood symptoms and swelling episodes tend to deteriorate and more frequent after adolescence. Hereditary angioneurotic edema most often leads to swelling on the limbs and faces that may be unpleasant, but generally not life -threatening. However, if the condition affects the airways and the gastrointestinal tract, potentially serious complications may occur. There is no clear medicine, but doctors can provide medication and clinical treatment to control symptoms when episodes occur.
Recent research has determined the basic genetic factors involved in the hereditary angioneurotic edema. In healthy people, the Serping1 gene produces proteins called C1 inhibitors that play a major role in controlling inflammation and swelling. Patients with hereditary angioneurotic edema were either inactivated or abnormal -function genes Serping1. Their low levels of inhibitors C1 lead to inflammation and damage to blood CÉv, which allows the fluid to penetrate from the blood vessels and collect in body tissue. The result is serious, frequent episodes of swelling in one or more areas of the body at a time.
As the name suggests, hereditary angioneurotic edema can be handed over from parents. It is an autosomal dominant disorder, which means that only one parent must own a damaged copy of the gene to hand it over. However, it is possible for the new random mutation to cause angioneurotic edema in a person who has no family history or other type of autoimmune disorder.
type and severity of symptoms depends on which parts of the body are affected. Many patients experience swelling in arms, legs and face. Pain and tenderness are unusual, although it can be difficult to wear shoes, walk, or perform practical tasks in the presence of swelling. Hereditary angioneurotic edema can also affect the intestines, leading to stomach cramps, nausea, vomiting, diarrhea and others withOsvaty symptoms. The main concerns are also swelling of the neck and tongue, as they can cause life -threatening difficulty breathing.
Since swelling can be a symptom of many different health problems, it may be difficult to obtain a clear diagnosis of angioneurotic edema. Doctors generally review the patient's medical and family history and exclude other potential causes such as infections and allergies. Genetic testing on blood samples can confirm the diagnosis after rejecting other problems.
Most edema episodes can be controlled by a drug called Danazole, which improves protein levels C1 in the bloodstream. People who have frequent problems are often instructed to take low doses daily to help prevent attacks. Emergency treatment or intestinal swelling may be required for Airw. The respiratory tube, oxygen therapy and intravenous nutrition can maintain patients stable until their symptoms improve.