What is HAE?

About the disease

Hereditary angioedema (HAE) is a rare lifelong condition, causing recurring painful swellings on various parts of the body.

It is an autosomal dominant disorder and at the same time a serious health problem which can place a tremendous burden on the lives of patients and their families. According to international sources, HAE affects an estimated 1 in 50,000 individuals. It is caused by one of more than 450 different mutations in the SERPING1 gene which produces C1 inhibitor protein, thus leading to its deficiency in blood plasma.

Symptoms

HAE manifests mainly as recurrent swellings on any part of the body. These symptoms can be very painful and can even be life-threatening. They evolve quickly and can last for 3–5 days. The swellings can be as follows:

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Swelling of the throat, which can lead to problems with swallowing, talking, and even to suffocation.

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Abdominal swelling that leads to severe pain with nausea and vomiting.

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Some patients (especially children) may also present prodromal symptoms (erythema marginatum), a non-itching map -like red skin rash.

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Swelling of the face or mouth, which is very painful and causes temporary disfiguration.

Diagnosis

The diagnosis of HAE can be expected in patients:

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with recurrent symptomatic swellings or abdominal pain

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who have similar cases in the family

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and/or who had no response to antihistamines in the treatment of acute symptoms.

To diagnose HAE types I and II, measurements of serum/plasma levels of C1-INH function, C1-INH protein and C4 complement are used. Genetic testing can also be performed, however, biochemical testing of C1-INH is efficient, more accessible and less expensive.

It is estimated that in the Czech Republic live cca 260 HAE patients.

Diagnosis code: Defect in the complement system D841.

Management strategies in the Czech Republic

The expert working group for HAE within the Czech Society of Allergology and Clinical Immunology issued the following therapy management recommendations in 2022:

Treatment recommendations for HAE patients in the Czech Republic are based on recommendations issued by the WHO / EAACI.

acute treatment, depending on the severity of symptoms (in the development of orofacial edema, laryngeal or gastrointestinal obstruction, urogenital edema, severe limb edema).
short-term preventive treatment (prophylaxis) before iatrogenic procedures.
long-term preventive treatment is indicated in symptomatic patients depending on the disease activity, frequency of attacks, patient's quality of life and the risk of reduced/insufficient effectiveness of appropriate episodic treatment.

More information about HAE medication in the Czech Republic is available in Czech language on the website of the Czech Society of Allergology and Clinical Immunology, working group Hereditary Angioedema HERE.