Recurrent episodes of nonpruritic swelling of the skin and mucous membranes or internal organs may be symptoms of Hereditary Angioedema, a rare hereditary disease. Sometimes misdiagnoses due to non-obvious symptoms can lead to more serious problems. Various activities are organized all over the world in order to raise awareness in society and physicians on May 16, which is declared as World Hereditary Angioedema Day. The Turkish National Allergy and Clinical Immunology Association (AID) has also published the 'Hereditary Angioedema Diagnosis and Treatment Guide' for better recognition of this disease, which is not known enough by physicians and society in our country.
Although swelling attacks on the face or in various parts of the body immediately bring to mind allergic attacks, these swellings may not always be allergies. Swelling of the skin and mucous membranes, internal organs, larynx or mouth can also be symptoms of Hereditary Angioedema, a rare hereditary disease. Physicians' lack of knowledge of the disease can lead to misdiagnosis and treatment, further aggravating the problem. Therefore, May 16 is recognized as Hereditary Angioedema Day in the world, and various activities are organized all over the world on May 16 every year in order to raise awareness in society and physicians.
The Turkish National Allergy and Clinical Immunology Association (AID) also carries out studies to increase awareness of the disease with the contributions of the Hereditary Angioedema Working Group, which was established in 2009.
AID published the 'Hereditary Angioedema Diagnosis and Treatment Guide' in April 2022 for better recognition of this disease, which is not known enough by physicians and society in our country. The guide was prepared by scientists experienced in Hereditary Angioedema from different parts of Turkey under the leadership of the Working Group. The editor of the guide, which will be a resource for doctors in diagnosis and treatment, is Prof. Dr. Asli Gelincik and Prof. Dr. Mustafa Gulec took the responsibility. In addition to this study, AID holds training meetings on the diagnosis and treatment of the disease in Ankara, Istanbul, Izmir, Gaziantep and Konya in order to promote the guide and increase the awareness of physicians about Hereditary Angioedema.
Hereditary Angioedema, a rare disease, does not come to mind!
Head of AID Hereditary Angioedema Working Group Prof. Dr. Gül Karakaya made the following statement on the occasion of May 16, World Hereditary Angioedema Day:
“Hereditary Angioedema (HAE) is a relatively rare and inherited disease that progresses with attacks of swelling (angioedema) in various organs of the body. Its frequency in the world varies between 1/10.000 and 1/50.000. Although it is expected to be more frequent due to the high number of consanguineous marriages in our country, the actual frequency and number of patients in our country are not yet known. The biggest difficulty in diagnosis is that physicians do not know the disease sufficiently and do not consider Hereditary Angioedema among the preliminary diagnoses when examining such a patient. Therefore, although the disease usually starts in childhood and adolescence, patients in our country can be diagnosed mostly in adulthood.”
Mentioning that patients usually apply to the hospital with complaints of swelling (angioedema), Prof. Dr. Gül Karakaya said, “Allergic swelling attacks come to mind in such applications and patients are directed to allergy clinics. Therefore, although it is not an allergic disease, the diagnosis, treatment and follow-up of this disease are mostly done by immunology and allergy specialists.
Wrong Diagnosis Causes Unnecessary Surgery!
Explaining that swelling can occur on the face, in different parts of the body, and on the skin, Karakaya said, “The most dangerous of these swellings are those that occur in the throat, larynx or mouth. This situation can be life-threatening as it will cause shortness of breath.” Pointing out that an edema in the intestines can lead to symptoms such as severe abdominal pain, nausea, vomiting and diarrhea, Prof. Dr. Karakaya continued:
“Intestinal attacks can lead to unnecessary abdominal surgeries. Sometimes these patients are mistakenly diagnosed with Familial Mediterranean Fever, which is relatively more common in our country and progresses with attacks of abdominal pain, and the patient's complaints continue despite starting treatment for this disease.