0000000000559008
AUTHOR
Arlette Ruiz De Saez
Adverse Events in Treatment of Inherited Factor VII Deficiency: Final Analysis of the STER
Abstract Abstract 2279 Introduction No evidence-based guidelines are available for the treatment of Factor VII deficiency. Replacement therapy (RT) is still influenced by different factors as rarity of the disorder, availability and supply of products and economic reasons. All RTs are not exempt of side effects and scanty data is available about the safety of the products currently used. Aim of this study was to analyze adverse events (AEs) of RTs for congenital Factor VII deficiency, as reported in Seven Treatment Evaluation Registry (STER). Design and Methods FVII deficiency patients treated for bleeding episodes, prophylaxis, and surgery were investigated for RT-related AEs over a period…
Severe High Molecular Weight Kininogen (HK) Deficiency: Clinical Characteristics, Deficiency-Causing KNG1 Variants in Reported and New Cases, and Estimated Prevalence
Abstract Background: Severe high molecular weight kininogen (HK) deficiency is an autosomal recessive defect of the contact system caused by mutations in KNG1. Limited scientific interest in HK deficiency due to the rarity of the seemingly asymptomatic condition may increase, as HK, the precursor of bradykinin, is now discussed as a therapeutic target e.g. in hereditary angioedema. Aims: We provide a comprehensive analysis of the diagnostic, clinical, and genetic features of HK deficiency and estimate its frequency. Methods: We identified a new case of HK deficiency, systematically review the literature, conduct new genetic studies of reported cases, and comprehensively analyze the clinical…