Hereditary angioedema is a genetic disease that causes symptoms such as swelling throughout the body, especially in the face, hands, feet and genitals, and recurrent abdominal pain, with nausea and vomiting. In some cases, the swelling can also affect organs like the pancreas, stomach and brain.
In general, these symptoms appear before the age of 6 and swelling attacks last for about 1 to 2 days, while abdominal pain takes up to 5 days. In addition, the disease can stay for long periods without causing problems or inconvenience to the patient, until new crises arise.
Hereditary angiedema is a rare disease, which can arise even when not a family history of this problem. It is classified into 3 angiedema type 1, type 2 and type 3, according to the protein affected in the body.
Diagnosis
The diagnosis of the disease is made from the symptoms and a blood test that measures the C4 protein in the body, which is at low levels in cases of hereditary angiedema.
In addition, the doctor may also order the quantitative and qualitative dosage of C1-INH, and it may be necessary to repeat the tests during a crisis of the disease.
Treatment
The treatment of hereditary angiedema is done according to the severity and frequency of symptoms, and hormone-based medications, such as danazol, stanazolol and oxandrolone, or antifibrinolytic remedies, such as epsilon-aminocaproic acid and tranexamic acid, can be used. prevent new crises.
During crises, the doctor may increase the dose of medication and also recommend the use of drugs to combat abdominal pain and nausea.
However, if the crisis causes swelling in the throat, the patient should be taken immediately to the emergency room, as the swelling can block the airway and prevent breathing, which can lead to death.
Complications
The main complication of hereditary angiedema is swelling in the throat, which can cause death from suffocation. In addition, when swelling occurs in the pancreas and in the, the disease can also impair the proper functioning of these organs.
Some complications can also occur due to the side effects of the drugs used to control the disease, and problems such as:
- Weight gain; Headache; Mood swings; Increased acne; Hypertension; High cholesterol; Menstrual changes; Blood in the urine; Liver problems.
During treatment, patients should have blood tests every 6 months to check their liver function, and children should have tests every 2 to 3 months, including an abdominal ultrasound scan every 6 months.
What to do during pregnancy
During pregnancy, patients with hereditary angiedema should discontinue the use of medications, preferably before becoming pregnant, as they can cause malformations in the fetus. If crises arise, treatment should be done according to the doctor's guidance.
During normal childbirth, the onset of attacks is rare, but when they do, they are usually rare. In the case of cesarean delivery, only the use of local anesthesia is recommended, avoiding general anesthesia.
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