Publications by authors named "F el Atiq"
The molecular background of quantitative defects of von Willebrand factor.
J Thromb Haemost
November 2024
Article Synopsis
- The study investigates how patients with Von Willebrand disease (VWD) perceive the severity of their condition, highlighting a gap in understanding patient experiences alongside traditional lab measures.
- A nationwide survey in the Netherlands included 736 VWD patients, who reported their disease severity, bleeding scores, and quality of life through a questionnaire.
- Results show that self-reported severity aligns well with clinical classifications, and factors like type of VWD, bleeding severity, gender, treatment history, and specific lab values significantly influence patients' perception of their disease severity.
Article Synopsis
- Type 2B Von Willebrand disease (VWD) is a bleeding disorder linked to specific genetic variations in the VWF gene, and the study aimed to explore how these genetic differences affect clinical symptoms over a 16-year period in a cohort of 64 patients.
- The research found that 67.2% of patients experienced thrombocytopenia (low platelet counts), which was most significantly associated with the p.Arg1306Trp genetic variant, showing considerably lower platelet counts compared to another variant, p.Arg1308Cys.
- Additionally, while some patient pregnancies led to decreased platelet counts, postpartum hemorrhages occurred despite preventative treatment, highlighting the complex relationship between genetic factors and bleeding events in affected individuals.
Low von Willebrand factor-unraveling an enigma wrapped in a conundrum.
J Thromb Haemost
December 2024
Article Synopsis
- The 2021 guidelines recommend categorizing patients with von Willebrand factor levels between 30 to 50 IU/dL and increased bleeding tendencies as type 1 von Willebrand disease (VWD), which has sparked debate.
- Recent studies show that people with partial VWF deficiency can have symptoms that change with age, indicating that Low VWF is a subgroup of type 1 VWD.
- The article discusses challenges in diagnosing type 1 VWD and presents a new diagnostic algorithm focusing on patients with VWF levels of 30 to 50 IU/dL who have little to no bleeding history and limited exposure to significant bleeding risks.
Background: von Willebrand factor (VWF)-R1205H variant (Vicenza) results in markedly enhanced VWF clearance in humans that has been shown to be largely macrophage-mediated. However, the biological mechanisms underlying this enhanced clearance remain poorly understood.
Objectives: This study aimed to investigate the roles of (i) specific VWF domains and (ii) different macrophage receptors in regulating enhanced VWF-R1205H clearance.