What is Hereditary Angioedema? prof. Dr. Gul Karakaya told

On May 16, which is accepted as ‘World Hereditary Angioedema Day’, we investigated the aspects that distinguish it from allergies in order to highlight the importance of this not very common disease. It is thought that 6 to 10 thousand people in our country have this disease. prof. Dr. Gül Karakaya explained the details that distinguish the two diseases from each other.

Hacettepe University Faculty of Medicine, Department of Chest Diseases, Professor of Immunology and Allergy. Dr. Rose Karakaya He stated that hereditary angioedema (HAE) attacks could be misdiagnosed and one out of every three patients who went to the emergency room with crampy abdominal pain underwent unnecessary surgeries such as appendicitis, gallbladder, ovarian cyst and even ectopic pregnancy. prof. Dr. Karakaya, Hereditary Angioedema is difficult to diagnose because it does not come to mind at first, and it can be brought under control once the diagnosis is made; He stated that while the disease was diagnosed in 2 years in Germany, 5.5 years in England and 7 years in France, this period could be 20 years in Turkey.

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Hereditary Angioedema

ALLERGY OR HERDITARY ANGIOEDEMA?

Stating that Hereditary Angioedema is very often confused with allergic reactions and it can take many years for the patients to be diagnosed correctly, Prof. Dr. Karakaya said:

“Contrary to allergy-induced angioedema, itching, hives do not occur in HAE cases, and swellings develop and resolve much more slowly than other angioedema diseases. These patients do not respond to allergy medications and syrups, cortisone drugs, and adrenaline. “If the patient is going to a healthcare facility, HAE should definitely be considered among the possible diagnoses. Some blood tests for HAE show very typical changes, unlike allergy-induced angioedema.”

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prof. dr. rose karakaya

Stating that another disease that is confused with Hereditary Angioedema is Familial Mediterranean Fever (FMF), Prof. Dr. Karakaya continued:

“Patients with severe abdominal complaints alone can be diagnosed with FMF or they can be operated unnecessarily with diagnoses such as appendicitis, ovarian cyst, and ectopic pregnancy in the emergency services they go to with severe abdominal pain.”

HEREDITARY ANGIOEDEMA (HAE) IS A HERITIVE DISEASE

prof. Dr. Black Rock HAE is an inherited disease that occurs with recurrent attacks of swelling (edema) in different parts of the body. Diagnosis is made by blood tests after the examination. First, we measure the level of complement 4 (C4) in the blood. If this level is low, we examine the C1 inhibitor level and C1 inhibitor function. HAE occurs in both men and women. The rate of passing the disease to a child of a person with this disease is 50%. When HAE patients have children, they should definitely undergo a screening test even if their children do not show signs of the disease. It is estimated that there are 6-10 thousand HAE patients in our country, according to the population.”he explained.

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CAN CAUSE SUDDEN BREATHING

This disease, which appears suddenly with attacks of sudden and very severe swelling (angioedema) in the hands, face, feet, legs, genital area, digestive system and respiratory tract, causes severe abdominal pain, nausea and vomiting in the form of cramps when it develops in the digestive system. Pointing out that the patient can become unrecognizable when the disease develops on the face, Prof. Dr. Gül Karakaya said that sudden edema, especially in the respiratory tract and larynx region, can have dangerous consequences and can be fatal for patients if not intervened correctly and quickly.

TOOTHING, TYPING WITH A KEYBOARD, AND EVEN WALKING CAN BE RISKY

prof. Dr. Karakaya said that all kinds of trauma, pressure, injury, surgery, anesthesia, infection, anxiety, exam stress, infection, changing hormone levels, birth control or even the use of certain blood pressure medications can trigger the disease in HAE patients, and warned especially about undiagnosed patients:

Various interventions and surgical procedures to the mouth and teeth in patients who are “undiagnosed” or who have not been diagnosed and applied preventive medicine before the procedure, cause laryngeal swelling.

ATTACKING 100 DAYS A YEAR

HAE varies widely, but generally begins in childhood (range 0-20). It worsens with the increase in hormones with the onset of puberty and lasts a lifetime. Attacks last 2-5 days on average. This shows that patients spend 20-100 days a year with attacks. This causes serious school and workday loss and absenteeism. prof. Dr. Karakaya said, “Fear of death impairs the quality of life of HAE patients and sometimes even causes panic disorders. For example, a patient with a swollen face does not want to go to work or school that day. Some patients see this as a deficiency and are hesitant to marry. Some of them are afraid of having children because of their heredity.” he said.

HEREDITARY ANGIOEDEMA CAN BE CONTROLLED

Noting that there is no definitive cure for the disease, Prof. Dr. Gül Karakaya stated that the attacks can be controlled with the C1 inhibitor concentrate to be given to the patient, and said, “The most important step is to inform the patient and their relatives in detail about this disease. Recurrent angioedema and/or abdominal pain not accompanied by urticaria, continuing since childhood; swelling in places such as the face, mouth, throat, hands, arms, legs and genitals; nausea and vomiting; It is very important to see an Immunology and Allergy Specialist for complaints such as difficulty in breathing and have the necessary tests done.” said.

HAE IN NUMBERS

  • In 1/3 of the patients, there may be antecedent symptoms such as itching and redness of the skin 1-24 hours before the attack.
  • Diagnosis of the disease may be delayed for 20 years in Turkey.
  • The risk of death as a result of suffocation due to edema in the larynx in undiagnosed patients is 9 times higher than in previously diagnosed patients.
  • Due to the confusion of abdominal attacks with appendicitis, 1/3 of these patients undergo unnecessary abdominal surgery.
  • 2% of all angioedema is Hereditary Angioedema.
  • In 75% of the patients, the first attack occurs before the age of 15, but it may not recur as in adults.
  • Allergic angioedema develops in 12-24 hours and resolves in a short time, but HAE develops much more slowly and recovery may take 5-7 days.

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