Hereditary angioedema: a hidden genetic disease that can be fatal in the community!

In this rare disease characterized by genetic enzyme deficiency, temporary swellings occur in the skin, stomach and intestines and upper respiratory tract. If these swellings are excessive in the mucous membranes and vocal cords, it leads to a significant death. The swellings are not itchy and disappear in 1-3 days. Although it usually starts in childhood, it can rarely occur in adulthood. Although swellings on the skin can be seen, swellings in the intestinal mucosa can cause abdominal pain, vomiting and diarrhea.

8 simple questions may be helpful in diagnosing hereditary angioedema, and 3 or more positive responses suggest the diagnosis and require testing;

If there are 3 of these findings, definitely consult a dermatologist!!!!!!!

Hereditary Angioedema Types:

Type I: The body cannot produce enough C1-esterase inhibitor (C1-INH). About 85% of patients are of this type.

Type II: The body produces C1-INH, but its function is impaired. Approximately 15% of patients are type II.

Type III: In this very rare form, although there is a normal C1-INH level, there is a disorder of the receptor it binds to.

Screening tests for the diagnosis of hereditary and acquired angioedema;

Agents such as C1-INH concentrate, danazol and fresh frozen plasma are used in the treatment of hereditary angioedema. Angioedema attacks, especially after circumcision, childbirth, surgical interventions such as tooth extraction, and stresses such as infection and trauma, can cause respiratory distress and lead to death in undiagnosed patients. C1-INH concentrate given before these procedures can be life saving. Danazol, which is used in prophylaxis, has side effects such as liver damage, menstrual irregularity in women and growth retardation in children.