What is HAE
About the disease
Hereditary angioedema (HAE) is a rare, lifelong genetic disorder that affects both men and women. It causes recurrent and unpredictable swelling (edema) across various parts of the body. Without adequate treatment, it is a serious condition that significantly impairs the quality of life of individuals living with this diagnosis and their families, and it can lead to life-threatening situations.
There are several types of this condition. The most common forms are HAE Type 1 and Type 2. Both variants are caused by a deficiency or dysfunction of the plasma protein called C1 inhibitor (C1-INH) due to mutations in the SERPING1 gene. The lack or impaired function of this protein results in the uncontrolled development of swelling.
It is estimated that HAE with C1 inhibitor deficiency affects approximately 1 in 10,000 to 1 in 50,000 individuals. Although the condition is most commonly inherited (an autosomal dominant trait requiring only one parent to carry the gene), approximately 25% of cases result from de novo (new) genetic mutations. Consequently, HAE can occur as the very first diagnosed case in a family.
Symptoms
Some people (especially children) with HAE may also present with prodromal symptoms (erythema marginatum), a non-itching map-like red skin rash.
Diagnosis
HAE can be suspected in individuals who:
- experience recurrent symptomatic swelling or severe abdominal pain
- have a family history of similar issues
- and/or do not respond to antihistamines when treating acute symptoms
The cornerstone of diagnosis is a specialized biochemical blood test. It assesses the functional activity of the C1 inhibitor protein (C1-INH), its total antigenic level, and the level of the C4 complement component. Genetic testing is also possible.
Clinical management strategies in the Czech Republic
In the Czech Republic, an estimated 200 people live with an HAE diagnosis*. Care for people living with HAE follows the guidelines issued by the HAE Working Group of the Czech Society of Allergology and Clinical Immunology (CSAKI), which are based on international WHO and EAACI standards. Treatment encompasses three main areas:
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Treatment of acute attacks (on-demand therapy)
Prompt administration of targeted medication based on the severity and location of the swelling (e.g., swelling of the face, throat, abdomen, etc.).
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Short-term prophylaxis (prevention)
Administration of medication before scheduled high-risk procedures (e.g., dental work or surgical interventions) that could trigger an attack.
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Long-term prophylaxis (prevention)
Regular treatment aimed at reducing the frequency and severity of attacks, improving quality of life, and preventing life-threatening conditions.
More information about HAE medication in the Czech Republic is available in Czech on the website of the Czech Society of Allergology and Clinical Immunology, working group Hereditary Angioedema.
*Diagnosis code is Defect in the complement system D84.1; Orphanet group code is ORPHA: 91378.
Specialized HAE centres
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Prague
Motol University Hospital, Department of Immunology
V Úvalu 84, 150 06 Prague 5
- Outpatient (children) department:
- +420 224 433 737
- Outpatient (adult) department:
- +420 224 435 976
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Hradec Králové
University Hospital Hradec Králové, Department of Clinical Immunology and Allergology
Sokolská 581, 500 05 Hradec Králové
- Outpatient department:
- +420 495 832 104
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Plzeň
University Hospital Lochotín, Department of Clinical Immunology and Allergology
Alej Svobody 923/80, 323 00 Plzeň 1
- Outpatient department:
- +420 377 103 387
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Brno
St. Anne's University Hospital in Brno (FNUSA)
Pekařská 53, 656 91 Brno
- Outpatient department:
- +420 543 183 131