Hereditary angioedema in Ukraine: clinical manifestation and diagnostic features

Abstract

Introduction. Hereditary angioedema (HAE) is a rare disease associated by bradikinin-mediated episodes of edema. Lack of diagnostic tools and treatment options until 2020 led to a small number of diagnosed patients in Ukraine. In 2020 treatment with C1 inhibitor became available to Ukrainian patients at the expense of the state budget. Methods. Purpose is to summarise the data about HAE diagnostics and clinical manifestation in Ukraine. The diagnosis of HAE was based on double results of low C1-inhibitor concentration and/or activity or genetic testing for C1-normal HAE. The data are based on the reports of clinical immunologists all over Ukraine and questionnaires distributed among patient organization members. Results. To date, 140 patients with HAE (115 - type 1, 24 - type 2, 1 - normal C1- inhibitor) have been diagnosed in Ukraine, of which 114 are adults and 28 are children, 62.6% of patients were diagnosed during 2021-2025 since the laboratory diagnostic tools and treatment became available. Median age of diagnosed patients іs 37,5 years (range: 6-72). In most patients, the disease manifestated in childhood (average age 10.4 years), while the average age of diagnosis is 26.5 years. As the first manifestation of the disease, 30% of patients noted recurrent abdominal pain in childhood, 60% indicated edema of the upper and lower extremities in adolescence, in 8% the disease manifested with edema of the larynx at different ages, rare manifestations were also noted, such as edema of the joint and breast. About 80% of patients were previously mistakenly diagnosed as allergic angioedema. 77% have a burdened family history for recurrent angioedema and 23% are the only member in their family. Conclusion. Over the past few years, the diagnosis of HAE has significantly improved in Ukraine, although the actual number is still lower the estimated number 800 patients. The delay in diagnosis is about 16 years. Alertness about HAE in childhood with an accent to recurrent unexplained abdominal pain is an unused reserve for shortening the path from manifestation to diagnosis.