HEREDITARY ANGIOEDEMA CLINIC




Hereditary Angioedema (HAE) is a rare genetic disorder caused by a deficiency or dysfunction of a protein called C1-inhibitor. This defect leads to the overproduction of a substance known as bradykinin, which increases the permeability of blood vessels, causing fluid to leak into surrounding tissues and resulting in swelling (edema).

HAE is inherited in an autosomal dominant pattern, meaning that each child of an affected parent has a 50% chance of inheriting the condition. However, there are also cases caused by new mutations, with no prior family history. In Greece, more than 55 families with over 200 diagnosed patients have been identified, including approximately 20–30 children.

HAE is characterized by recurrent episodes of non-inflammatory swelling in different parts of the body, including the skin and subcutaneous tissue (such as the face, hands, or feet), the gastrointestinal tract (causing severe abdominal pain, vomiting, and diarrhea), and the upper respiratory tract (such as the larynx, tongue, or throat), which can be life-threatening due to airway obstruction. These episodes occur without itching or rash, do not respond to standard treatments like antihistamines or corticosteroids and typically last 2 to 5 days. Although the age of symptom onset varies, most patients will experience their first episode during childhood or adolescence.


  • Diagnosis of HAE involves:
  • Management and Treatment
  • HAE and Emergency Support
Diagnosis of HAE involves:
  • • Detailed clinical history
  • • Blood tests, including C4 and C1-inhibitor levels
  • • Genetic testing, when deemed necessary by the medical team
Management and Treatment

Although HAE cannot be cured, there are now effective treatments available that can significantly reduce or prevent attacks and help children live a full, normal life.

HAE and Emergency Support
  • • Education for families to recognize symptoms early
  • On-demand treatment of acute attacks with specific medications (e.g., C1-inhibitor concentrate, bradykinin receptor antagonists)
  • Prophylactic therapy, when episodes are frequent or severe
  • Regular follow-up by a specialist

The Hereditary Angioedema operates on the first Friday of each month within the dedicated facilities of the Allergy and Clinical Immunology Unit.

In addition, children with HAE have access to:

  • A 24-hour emergency contact line with the allergists for urgent care
  • Referral or hospitalization, when needed, even on days when the hospital is not on emergency duty

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