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Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease. Few states in developing countries have an adequate management of HAE, but none of them belongs to the former USSR area. This study analyses data from C1-INH-HAE patients from Belarus. Methods: Data about clinical characteristics, genetics, access to diagnosis and treatment were collected from 2010 by the Belarusian Research Center for Pediatric Oncology, Hematology and Immunology in Minsk. A questionnaire about attacks, prophylactic (LTP) and on-demand therapy (ODT) was administered to patients. Results: We identified 64 C1-INH-HAE patients belonging to 26 families, 27 (42.2%) of which were diagnosed in the last 3 years. The estimated minimal prevalence was 1:148,000. Median age at diagnosis was 29 years, with diagnostic delay of 19 years. Thirty-eight patients answered a questionnaire about therapy. Eleven patients did not use any treatment to resolve HAE attacks. Twenty-seven patients underwent ODT: 9 with appropriate treatments, and 18 with inappropriate treatments. Nine patients used LTP with attenuated androgens and 1 with tranexamic acid. Thirty-two patients answered a questionnaire about attacks and triggers: 368 angioedema attacks were reported, with an average of 10 attacks per year. We found 24 different SERPING1 variants: 9 missenses, 6 in splice sites, 6 small deletions, 2 nonsense, 1 large deletion; 7 have not been previously described. De novo variants were found in 11 patients. Conclusions: C1-INH-HAE diagnosis and management in Belarus is improved as seen from the high number of new diagnosis in the last 3 years. Next steps will be to reduce the diagnostic delay and to promote the LTP and ODT. [ABSTRACT FROM AUTHOR]

Hereditary angioedema is a rare and disabling disease characterized by severe, acute, self-limiting edema of the subcutaneous and mucosal tissue. The disease carries significant mortality when the upper airways are involved. It is determined by a transient dysregulation in vascular permeability with a sudden increase in fluid extravasation. The most common genetic defects recognized on the SERPING1 gene leads to complement C1-inhibitor deficiency (C1-INH-HAE). In the last few years mutation on the factor XII gene, the angiopoietin, and the plasminogen genes were recognized to cause angioedema with normal C1-INH levels (nC1-INH-HAE). However, it is not uncommon to have family history of angioedema and unknown genetic defect. The burden of the disease on the individual patients is unpredictable since the number, location and severity of the attacks spans from silent disease to an extremely high number of attacks during lifetime. Nowadays effective and safe treatment for the C1-INH-HAE forms are available and new drugs are under investigation both for the on demand therapy and for the prophylaxis of the attacks. Acute treatments has been proved to reduce severity and duration of attack, prophylaxis reduces the number of attacks thus positively affecting the quality of life and reducing the indirect costs of the disease. Unfortunately, the costs of the medications are high limiting the accessibility and availability of treatment in different countries. This paper reviews the treatment options and the differences in the availability of the medications in three European countries, with practical suggestions for the management of the disease. [ABSTRACT FROM AUTHOR]

Isolated angioedema, which is a localized, non‐pitting, and transient swelling of the subcutaneous or submucosal tissue not associated with pruritus, urticaria, or anaphylaxis, may be classified, based on genetic pattern and mediators, respectively, as acquired or hereditary and histamine‐ or non‐histamine‐induced. The pediatric population with C1‐INH‐HAE (Hereditary angioedema due to C1‐inhibitor deficiency) is mostly symptomatic. The frequency of symptoms in such a population compared to adults seems to be lower, but we need more prospective data to conclude on this point. The HGR (Hereditary angioedema global registry), which collects symptoms in real time, will probably provide such information. In terms of treatments, pediatric patients are significantly disadvantaged due to the few studies aimed at registering treatment for this population. [ABSTRACT FROM AUTHOR]