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Hereditary Angioedema: Diagnosis, Treatment and Coping - Walla! health

2022-02-17T09:02:52.134Z


Hereditary angioedema causes swelling (edema) in certain tissues in the body Hereditary angioedema: diagnosis, treatment and coping Hereditary angioedema causes swelling (edema) attacks in certain tissues in the body. It is a relatively rare disease (several hundred patients have been identified in Israel), but in some cases it can even be fatal. Dr. Avner Reshef, a leading expert in the treatment of allergic diseases, with everything you need to know about hereditary ang


Hereditary angioedema: diagnosis, treatment and coping

Hereditary angioedema causes swelling (edema) attacks in certain tissues in the body.

It is a relatively rare disease (several hundred patients have been identified in Israel), but in some cases it can even be fatal.

Dr. Avner Reshef, a leading expert in the treatment of allergic diseases, with everything you need to know about hereditary angioedema

Zap group, in collaboration with zap doctors

16/02/2022

Wednesday, 16 February 2022, 10:58

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Edema (Photo: ShutterStock)

Imagine that one or more of the tissues in your body, such as the lips, tongue, palms, feet, eyelids, etc., begin to swell uncontrollably, and you have no idea why.

This scenario sounds frightening, but it is the share of those suffering from a disease called hereditary angioedema, which exists in the population of Israel in a ratio of 1 to 38,000 people.

We spoke with Dr. Avner Reshef, a leading expert in Israel and around the world for the diagnosis and treatment of angioedema.

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Causes and diagnosis

The diagnosis of hereditary angioedema is most often made in children up to the age of 10, following repeated events of edema or attacks of abdominal pain and intestinal obstruction

"Angioedema (angio-vascular, soil-edema) is caused by a lack or dysfunction of an enzyme called the C1 esterase inhibitor," says Dr. Reshef. , Manifested by repeated bouts of swelling (edema) in the face (cheeks, eyelids), mouth area (lips, tongue, pharynx), arms, hands and feet and genitals (penis, scrotum, labia).

In many cases there are also bouts of severe abdominal pain, often accompanied by nausea, vomiting, diarrhea and even intestinal obstruction.

Without treatment for the attack, the symptoms can last for several days, and when it comes to swelling of the tongue or pharynx, the blockage can lead to suffocation and death.



The diagnosis of hereditary angioedema is most often made in children up to the age of 10, following recurrent episodes of edema or bouts of abdominal pain and intestinal obstruction, but there are cases where the diagnosis is delayed for many years, especially when the seizures are not common enough or appear late.

To diagnose angioedema, it is important to find out if anyone in the family has suffered from edema or similar symptoms in the past, as the disease is hereditary.

It should be remembered that a quarter of the patients diagnosed with angioedema did not have a hereditary familial background, so these cases are considered as new mutations (variants) of the disease.



Edema attacks of hereditary angioedema are usually caused spontaneously or after physical injury, dental treatments, sore throats, feverish illnesses and surgeries under general anesthesia.

Angioedema may also occur due to the use of drugs such as hormones (mainly estrogens, such as birth control pills), painkillers (Voltaren, Nurofen, Advil, etc.) and drugs for the treatment of hypertension (especially ACE inhibitors).

Also, edema attacks also rarely occur in hematologic diseases and malignancies such as lymphoma.

Treatment

"Treatment of the disease refers both to the prevention of the seizure when it occurs, and to preventive drug treatment which is intended to prevent the recurrence of seizures," says Dr. Reshef.



Regarding preventive treatment, although angioedema is considered an "orphan disease", there are already new and effective solutions that make it possible to give regular-preventive treatment which reduces the frequency and severity of seizures.

Such treatment already exists in the Israeli drug basket and new drugs will enter soon when the clinical trials are completed.

We at Barzilai are proud to belong to a group of expert centers that participate in research and assist in the development of new preparations.



Like other orphan diseases, the treatment of angioedema requires knowledge and experience not found in any doctor or nurse.

However, awareness of angioedema has risen sharply in recent years, and much progress can be identified in its diagnosis and treatment, for example in emergency departments.

Numerous scientific studies and articles are published in the world medical literature on the subject of hereditary angioedema regarding the diagnosis and treatment of the disease.

"Like some countries around the world, where specialist centers for the treatment of angioedema patients have been established, the Center for Research and Treatment of Angioedema at Barzilai Hospital in Ashkelon is considered a center of expertise that combines treatment and follow-up with clinical research in new drugs."



Dr. Avner Reshef

Is an expert in the treatment and diagnosis of internal diseases, allergies, immunology and angioedema, director of the Center for Allergy, Immunology, and Angioedema at Barzilai Hospital in Ashkelon.

Former director of the Anguadema Center, Sheba Medical Center, Tel Hashomer.

Gives advice and opinions in complicated and complex cases of angioedema.

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Source: walla

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