116 Abstract Background Osteogenesis Imperfecta (OI) is characterised by bone fragility. Its features include easy bruising and haemorrhagic events without consistent clarification. Recently we described the clinical aspects of bleeding in a large cohort of 195 OI patients. The aim of this study is to find explanatory coagulation disorders with laboratory analysis in adult OI patients with a high bleeding score compared to OI patients with a low bleeding score. Methods This study was conducted at the Expert Center for adults with OI in Isala, the Netherlands. The self-BAT (self-administered Bleeding Assessment Tool) was distributed among 328 OI patients, 195 (60%) of whom completed the tool. Eleven OI patients with high self-BAT bleeding scores were selected and compared with a random selection of OI patients with low bleeding scores. Routine coagulation testing consisted of haematocrit and platelet count, activated partial thromboplastin time (APTT), fibrinogen, Factor VIII activity and Von Willebrand factor (VWF) antigen and activity. Additionally platelet function (PFA-200), Bleeding time (IVY method) and thromboelastometry (ROTEM) was performed. Results Two of the 11 high-scoring OI patients showed a prolonged bleeding time. Full blood count and analysis revealed one high-scoring OI patient with low levels of fibrinogen, while two other OI patients (one with a high score and one with a low score) had abnormal Factor VIII and/or Von Willebrand factor. Four of the 11 high-scoring OI patients and two of nine low-scoring OI patients displayed platelet function deviation through the PFA-200, accounting for 30% of the entire cohort. All ROTEM results were normal or inconclusive. Conclusion No significant differences in coagulation parameters were found between OI patients with a high bleeding score and those with a low bleeding score. A clarifying underlying mechanism for the reported bleeding problems among OI patients could not be identified. Because of the relatively high percentage of deviating platelet function OI patients, it might be useful to monitor platelet function on a larger scale, possibly extended with platelet aggregation tests.
RkJQdWJsaXNoZXIy MTk4NDMw