Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome among all monogenic autoinflammatory diseases. It is characterised by recurrent, self-limited fever attacks of short duration, polyserositis symptoms, and elevated acute-phase reactants. FMF has the highest prevalence in the Eastern Mediterranean region. The first descriptions of FMF cases in Central Europe date back to 2014. The prevalence in the Central European region was previously estimated at 1:465,500 in the paediatric population, with data on adult prevalence lacking. Patients with FMF who fulfilled Eurofever/PRINTO diagnostic criteria were included in the study. Massive parallel sequencing of clinical exome with evaluation of virtual panel for genes associated with inborn errors of immunity and autoinflammatory conditions was used in the vast majority of the patients. Statistical analysis of clinical and laboratory manifestation was performed. The prevalence of FMF in the Slovak population of the present study was 1:48,224 (1:41,348 in children and adolescents), which is significantly higher than expected. The most common variant in our cohort was M694V, present in 52.0% of alleles. Variant K695R was observed in 29.9% which is higher than reported in the other FMF cohorts. Abdominal pain and fever were the most prevalent clinical symptoms, although up to one-third of patients also experienced atypical symptoms such as tonsillitis or cervical lymphadenopathy. This paper provides the first comprehensive analysis of the Slovak National FMF cohort, including epidemiological data, clinical manifestations, and genetic background. Our data could contribute to the general knowledge about FMF characteristics in the underreported regions.

Background and Objectives: Canakinumab, a human recombinant monoclonal antibody against interleukin-1ß (IL-1ß), is indicated for the treatment of selected autoinflammatory periodic fever syndromes and rheumatic diseases. Data on its use during pregnancy remain limited and all are primarily derived from case reports. Although animal studies indicate no evidence of reproductive toxicity, the risk to the fetus or mother remains unknown. This study aims to provide more findings about this important topic. Methods: A retrospective analysis was conducted on three patients followed and treated in the National Center for Periodic Fever Syndromes. Although due to the small sample size, no general conclusions regarding the safety of canakinumab during pregnancy can be drawn. Results: Three maternal-exposed pregnancies were assessed, with no paternal exposure. Diagnoses included mevalonate kinase deficiency, familiar Mediterranean fever and TNF-receptor-associated periodic syndrome. All mothers were treated with canakinumab, and two of those continued the canakinumab treatment during the whole course of pregnancy. The diseases remained under full control during pregnancy, enabling conception in two cases where attempts prior to treatment were unsuccessful. The therapy led to disease control, a reduction in inflammation and subsequently successful conception. One patient underwent IVF repeatedly. All pregnancies resulted in three healthy infants, with no reported miscarriages during the canakinumab-exposed pregnancies, no complications during pregnancies and no serious infections in the newborns. The children had normal development, without any developmental delays or chronic illnesses. Conclusions: The current data, including our findings, indicate no harmful effects of canakinumab during pregnancy. However, because of the scarcity of data, the use of canakinumab during pregnancy should be carefully managed, and women who want to become pregnant should continue treatment only after a thorough benefit–risk evaluation.

Heredit?rny angioed?m (HAE) je vroden? zriedkav? ochorenie prejavuj?ce sa rekurentn?mi atakmi angioed?mu. Postihnut? m??e by? ko?a a podko?ie, sliznice (tr?viaci, respira?n?, uropoetick? trakt) a podslizni?n? tkanivo. U ?ien vo fertilnom veku ... Heredit?rny angioed?m (HAE) je vroden? zriedkav? ochorenie prejavuj?ce sa rekurentn?mi atakmi angioed?mu. Postihnut? m??e by? ko?a a podko?ie, sliznice (tr?viaci, respira?n?, uropoetick? trakt) a podslizni?n? tkanivo. U ?ien vo fertilnom veku ...

Background and Objectives: Hereditary angioedema (HAE) represents a specific form of life-threatening inborn errors of immunity. Current guidelines recommend regular assessment of the disease burden, disease control and quality of life. This study describes the profile of HAE patients in Slovakia, disease control, quality of life, states of anxiety and depression, and socioeconomic situation. Materials and Methods: We used a set of standardized questionnaires—AE-QoL, AECT, HADS and Socioeconomic Status Questionnaire, and a non-standardized questionnaire—to describe the characteristics of the population. Results: We collected data on 56.44% (57 out of 101) of HAE adult patients registered in Slovakia. Moderate to severe HAE was present in 61.40% of patients; 73.68% were on long-term prophylactic treatment; and 19.30% received rescue treatment due to an acute HAE attack during the last 4 weeks. Most patients achieved lower AE-QoL scores, indicating a good quality of life. The AECT score indicated well-controlled disease in 91.23% of patients. Anxiety and/or depression scores were higher than normal in 17.54% of patients. Patients with HAE earned less than the average population, but most of them were economically active with relatively low rates of presenteeism and absenteeism. Only a minority of patients used social system benefits. Patients were exclusively cared for by relatives. Conclusions: The QoL scores achieved in all three standardized questionnaires indicate a good quality of life of HAE patients in Slovakia, which is associated with a high and specialized standard of care. Anxiety and/or depression were present in 17.54% of patients. Direct patients costs and social care costs are low, but there is an indirect socioeconomic burden on patients and their families.