What is hereditary angioedema?
hereditary angioedema is a very rare immune system disorder that causes blood, lymph and other body fluids to accumulate in certain areas of the body. People with disorders can experience frequently recurring episodes of face, hand, legs or abdomen. Hereditary angioedema can also cause gastrointestinal problems and potentially fatal narrowing of the airways. Treatment options are limited for disorder because traditional anti -inflammatory drugs are ineffective. People with heavy hereditary angioedema may need regular blood transfusions to control symptoms and prevent serious complications.
Proteins called C1 Esterase inhibitors normally regulate blood flow and fluid with different types of body cells. In the case of hereditary angioedema, C1 proteins are either in very low power or inactivated due to genetic mutation. Low or abnormal proteins C1 lead to the accumulation of fluids under the skin and in some organs. Condition is categorized as autosomal dominant, which means that b canI am inherited if only one parent carries a defective gene. Although the shortcomings of C1 are present at birth, symptoms usually do not arise until adolescence or early adulthood.
The most common symptoms of hereditary angioedema are swelling and redness on the limbs or face. In most cases, swelling is not accompanied by itching, burning or other symptoms normally associated with skin rashes. Symptomatic episodes can last anywhere from one day to a few weeks at a time and the attacks are reappeared in most patients somewhat spontaneously.
If the lack of C1 is severe, the lining of the gastrointestinal tract may also be affected. When the intestines swell, one can experience painful cramps, distension, loss of appetite and nausea. The lungs and airways are rarely involved, but complications can lead to life -threatening airway obstruction, that artistic attack or stroke.
They also diagnose hereditary angioedema by reviewing symptoms, exploring swollen skin stains and blood test analysis. Blood samples can be proven for the usual numbers of C1 and other signs of autoimmune disorder. Diagnostic imaging tests may also be necessary if the intestinal or lung damage is suspected.
When hereditary angioedema is limited to skin disability, treatment is not always necessary. The doctor may prescribe anti -inflammatory drugs such as corticosteroids that help relieve immediate symptoms, but there is no clear long -term medicine. Hospitalization and blood transfusions are necessary if the condition becomes very serious. Patients who are threatened by frequent, serious attacks may regularly need plasma transfusions throughout their lives to balance C1 concentrations.