Prevalence of mastocytosis and hymenoptera venom allergy in the United States

Background : Mastocytosis is a risk factor for hymenoptera venom anaphylaxis (HVA). Current guidelines recommend measuring tryptase in HVA patients and that those with mastocytosis pursue lifelong venom immunotherapy (VIT). Available data on HVA and mastocytosis largely derives from European single-center studies and the prevalence of HVA with and without mastocytosis in the United States (US) is unknown. Objective : We sought to determine the prevalence of HVA and mastocytosis in the US using an insurance claims database and evaluate the impact of mastocytosis on VIT in HVA patients in a US cohort. Methods :The IBM Watson Database, consisting of insurance claims from approximately 27 million US patients in 2018, was queried to identify patients with HVA and/or mastocytosis. Further, a retrospective study of 161 patients undergoing VIT between 2015 – 2018 at the University of Michigan (U-M) was conducted. Results :In the IBM Watson Database, the prevalence of HVA was 167 per 100,000 (0.167%) and the prevalence of mastocytosis 10 per 100,000 (0.010%) overall and 97 per 100,000 (0.097%) among those with HVA. Mastocytosis showed a 9.7-fold increase among HVA patients versus the general population. In the U-M cohort, 2.6% of VIT patients had mastocytosis. Tryptase level did not correlate with venom reaction severity but was higher in patients with systemic VIT reactions. Conclusions :We observed a lower US HVA prevalence than previously reported. Mastocytosis was more common in US HVA patients, though at lower rates than previously reported. In VIT patients there was no correlation between tryptase level and reaction severity. Key words :Tryptasevenom allergyvenom immunotherapyanaphylaxismastocytosismast cell activation syndromemast cell disease Abbreviations Hymenoptera venom allergyHVAUnited StatesUSVenom immunotherapyVITMast Cell DiseaseMCDAmerican Academy of Allergy, Asthma, and ImmunologyWOS:000717466600002Scopus - Affiliation ID: 60105072PMID: 33895259Science Citation Index ExpandedQ1ArticleUluslararası işbirliği ile yapılan - EVETKasım2021YÖK - 2021-2

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease

The prevalence of childhood psychopathology in Turkey: a cross-sectional multicenter nationwide study (EPICPAT-T).

Aim: The aim of this study was to determine the prevalence of childhood psychopathologies in Turkey