Hereditary angioedema is a rare immune system disorder that causes fluid buildup in certain areas of the body, leading to swelling, gastrointestinal problems, and life-threatening airway constriction. It is caused by low or abnormal C1 proteins due to a genetic mutation and can be inherited. Symptoms include swelling and redness, and treatment options are limited. Severe cases may require regular blood transfusions. Diagnosis is made through symptoms, examination, and blood tests. Treatment includes anti-inflammatory drugs and plasma transfusions.
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 the disorder may experience recurring episodes of swelling in the face, hands, feet, or abdomen. Hereditary angioedema can also cause gastrointestinal problems and life-threatening airway constriction. Treatment options are limited for the disorder as traditional anti-inflammatory medications are ineffective. People with severe hereditary angioedema may need regular blood transfusions to control symptoms and prevent serious complications.
Proteins called C1 esterase inhibitors normally regulate the flow of blood and fluids through different cell types in the body. In the case of hereditary angioedema, C1 proteins are either in very low quantity or inactivated due to a genetic mutation. Low or abnormal C1 proteins lead to fluid buildup under the skin and in some organs. The condition is classified as autosomal dominant, meaning it can be inherited if only one parent carries a defective gene. Even if C1 deficiencies are present at birth, symptoms usually do not appear until adolescence or early adulthood.
The most common symptoms of hereditary angioedema are swelling and redness of the extremities or face. In most cases, the swelling is not accompanied by itching, burning, or other symptoms normally associated with skin rashes. Symptomatic episodes can last from one day to several weeks at a time, and attacks recur somewhat spontaneously in most patients.
If C1 deficiency is severe, the lining of the gastrointestinal tract may also be affected. When the intestines swell, a person may experience painful cramping, distension, loss of appetite, and nausea. The lungs and airways are rarely involved, but complications can lead to life-threatening airway blockage, heart attack, or stroke.
Doctors diagnose hereditary angioedema by looking at symptoms, examining swollen patches of skin, and analyzing blood tests. Blood samples can be screened for normal C1 counts and other signs of an autoimmune disease. Imaging tests may also be needed if intestinal or lung damage is suspected.
When hereditary angioedema is limited to skin involvement, treatment is not always necessary. A doctor may prescribe anti-inflammatory drugs such as corticosteroids to relieve immediate symptoms, but there is no clear long-term cure. Hospitalization and blood transfusions are required if the condition becomes very serious. Patients who are at risk of frequent and severe attacks may need plasma transfusions on a regular basis throughout their lives, as well as to level C1 concentrations.
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