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 underskin anywhere on the body, sometimes in several places at once.

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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.

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.

In the Czech Republic, 168 patients have been diagnosed with HAE (according to the records from 2019).

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 2020:

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). For the treatment of HAE attacks, Icatibant and C1-inhibitors, are available in the Czech Republic. Frozen plasma can also be used if the aforementioned are not available.
short-term preventive treatment (prophylaxis) before iatrogenic procedures. According to the SPC indication criteria, C1-inhibitors (pdC1-INH) are the treatment of preference used for short-term preventative treatment.
long-term preventive treatment, recommended for patients with recurring severe symptoms and high frequency of attacks. Long-term prophylaxis should be considered on an individual basis, taking into account symptoms, frequency of attacks, quality of life, availability of medications and the risk of reduced/insufficient effectiveness of appropriate episodic treatment. These factors may change over time, so patients should be evaluated for long-term prophylaxis during each visit to the physician with respect to the patient's preferences. C1 inhibitors are the first choice for long-term prophylaxis. However, in the Czech Republic, products containing C1 inhibitors are not approved to be paid for by health insurance and available for long-term prophylactic treatment. According to current international recommendations, C1 inhibitor or lanadelumab should be used as a first choice for long-term prophylaxis. According to these recommendations, lanadelumab is an effective management for the long-term prophylaxis of patients with C1 inhibitor deficiency (HAE-C1-INH and HAE type I and II).

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.