Hereditary Angioedema (HAE) is a rare genetically determined disease characterized by recurrent episodes of angioedema (AE), most commonly affecting the skin and subcutaneous tissues, as well as the mucous membranes of the upper respiratory tract (URT) and the gastrointestinal tract (GIT). The disease significantly impacts both life expectancy and quality of life, causing substantial psycho-emotional, social, and economic burden not only for patients themselves but also for their family members and caregivers. Early diagnosis, timely initiation of treatment, and adequate prophylaxis are key factors in preventing disability and premature mortality in affected patients.
Considering the above, the objective was to develop and implement a Project aimed at improving the diagnosis of hereditary angioedema in Ukraine. The Project was conducted from October 2021 to October 2025 and involved approximately 50 physicians, including immunologists, allergists (both pediatric and clinical), as well as other specialized healthcare professionals from different regions of Ukraine.
Clinical Criteria for Suspected Hereditary Angioedema
The main clinical criteria suggesting hereditary angioedema include:
- the presence of similar clinical manifestations or confirmed hereditary angioedema in close (blood-related) relatives of the patient;
- recurrent swelling of the face, extremities, or genital area that limits daily activity, typically lasting 1–3 days and capable of spontaneous resolution without treatment;
- episodes of severe abdominal pain resembling intestinal colic, accompanied by diarrhea or vomiting, significantly limiting daily activities, usually lasting 2–7 days and potentially resolving spontaneously;
- sudden onset of dyspnea, difficulty swallowing, or voice changes, usually associated with neck swelling and suggestive of upper respiratory tract involvement;
- lack of clinical response to antihistamines, glucocorticosteroids, and epinephrine during treatment of acute attacks.
Project Outcomes
A total of 448 individuals with suspected hereditary angioedema were examined, resulting in confirmation of the HAE diagnosis in 70 new cases. The mean age at diagnosis was 26.8 years (range: 7–52 years).
By the completion of the Project in October 2025, hereditary angioedema had been diagnosed in 160 individuals (compared to 40 cases in 2021). Over the past four years, 110 new cases were diagnosed for the first time, of which 70 (63.6%) were identified within the framework of the free diagnostic project implementation.
Clinical Manifestations in Patients with HAE
Clinical Manifestations in Patients without HAE
It was established that 68% of HAE cases were diagnosed during active screening of blood relatives of index patients, whereas 32% represented sporadic cases, highlighting the critical role of family screening in the early detection of the disease.
Diagnosis of HAE among Relatives
Grant Support
The Project was supported by a grant provided by Takeda Pharmaceutical Company
Performing Laboratory
Project Partner
Ukrainian Association of Patients with Hereditary Angioedema (HAEi)
👉 More About Hereditary Angioedema — Symposium: Hereditary Angioedema: Clinical Course Variants and Treatment Opportunities