Hereditary angioedema is a rare condition that can significantly impair quality of life and sometimes cause fatal attacks.
What is hereditary angioedema?
Angioedema is swelling in mucosa and subcutaneous tissues caused by an increase in vascular permeability. Disease is called hereditary when it is familial, i.e. hereditary.
What causes hereditary angioedema?
It is caused by a deficiency of a substance called C1 esterase inhibitor in the blood due to genetic mutations or inability to function even if its level is normal. If the C1 esterase inhibitor (inhibitor) is insufficient, it cannot be prevented that the kallikrein and bradykinin substances in the blood can cause an increase in vascular permeability in trigger conditions such as trauma / surgical intervention / emotional stress. As a result, angioedema attacks occur.
What are the symptoms of hereditary angioedema?
Swelling of the different body parts, such as the lips and hands, lasts for several days and repeats occasionally. When there is edema in the intestinal wall, abdominal pain and vomiting may occur. If the larynx (throat) edema occurs, it can be fatal, as the trachea will be blocked.
What should I do if I have symptoms of hereditary angioedema?
It is recommended to contact allergy specialists or dermatologists, if unavailable. In case of difficulty in breathing and swallowing, contact the nearest emergency medical center.
How should I prepare when I go to the doctor?
Bringing your previous results with you will prevent unnecessary investigations. If an allergic reaction is suspected in the differential diagnosis, you may be asked not to use allergy medicines called antihistamines in the last 1 week to perform allergy skin tests.
How is it diagnosed?
In the blood sample, C4 and C1 esterase inhibitor levels and C1 esterase inhibitor function are examined. Genetic analysis can also be done if necessary.
Hereditary angioedema is considered more in the diagnosis if there are similar complaints in the family; however, 25% of patients do not have a family history. Findings in favor of hereditary angioedema are that complaints have started in childhood / adolescence, they are not associated with urticaria (hives), and do not respond to medicines used in allergic angioedema such as antihistamine and cortisone.
If a person is diagnosed with hereditary angioedema, their families should also be screened for this disease.
How is it treated?
Triggers known to cause hereditary angioedema attacks such as trauma, estrogen-containing contraceptive pills, hypertension medications called ACE inhibitors, emotional stress, extreme fatigue and febrile illness should be avoided whenever possible.
In the treatment of hereditary angioedema attacks, C1-esterase inhibitor supplements are used for the mechanism causing the problem. Alternatively, drugs that inhibit kallikrein and bradykinin agents can be used. If these drugs cannot be found in the emergency room that is applied, fresh blood plasma, a blood product, can be administered.
Using short-term preventive treatments before the situations that may cause attacks such as surgical intervention / dental treatment reduces the risk of attack. For this purpose, C1 esterase inhibitor, fresh frozen plasma or danazol tablet can be used.
Regular use of preventive treatment in patients with impaired quality of life and frequent attacks can reduce the frequency and severity of attacks. For this purpose, mostly C1 esterase inhibitors or danazol are used; alternatively, tranexamic acid may be recommended to patients who cannot use these drugs.
Is there a herbal treatment?
There is no proven herbal treatment.
What happens if it’s not treated?
Edema in the hands and feet causes limited mobility in the attack period. Edema in the face area can cause social distress. Intestinal edema can cause severe abdominal pain. Edema in the larynx can cause choking.
Do patients have the right to disability?
Disability assessments are in proportion to other chronic angioedema patients (10%). On the other hand, the unique characteristics of the disease do not contribute to the disability rate. Thus, hereditary angioedema disease alone does not grant disability, but may contribute to the overall disability rate.
Result;
It is a rare but life-threatening disease. Applying to specialist physicians on the subject for appropriate diagnosis and treatment; then regular monitoring is required in terms of disease findings, treatment response and drug side effects.
