Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals

Abstract

Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures. Other symptoms, such as easy bruising and bleeding complications during surgery necessitating transfusions, have also been reported. The aim of the cross-sectional pilot study was to assess the bleeding and bruising tendency in OI patients and to screen for possible underlying haematological disorders. Bleeding tendency was investigated using the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) in 22 adult OI patients. Laboratory testing was performed to investigate for bleeding disorders or abnormal coagulation. Four patients [OI type 1(n = 3), OI type 4(n = 1)] had a bleeding score (BS) fitting with a bleeding tendency, but without test results pointing to a coagulopathy. Two patients [OI type 1(n = 1), OI type 3 (n = 1)] without a bleeding tendency according to the BS had increased fibrinolysis. This is the second largest study to date addressing bleeding tendency in OI and the first study to use ISTH-BAT and elaborate laboratory testing for coagulopathies. Four patients had an increased bleeding tendency. However, laboratory testing demonstrated no bleeding disorder or abnormal coagulation. Increased fibrinolysis was demonstrated in two patients without bleeding tendency on BS. Vascular fragility as a cause of bleeding tendency in OI has been suggested earlier. Further research on bleeding tendency in OI is important.

Assessing bleeding risk in 18 children with Osteogenesis imperfecta

“…Coagulation, fibrinolysis and platelet function tests were normal in all patients investigated. Hyperfibrinolysis, previously identified as a possible cause for mild bleeding disorders in adults with OI, 5 was not confirmed in our study. VWF, soluble E‐selectin and sTM were also explored as markers of endothelial activation in vascular disorders 6 .…”

Effect of Possible Osteoporosis on Parenchymal-Type Hemorrhagic Transformation in Patients with Cardioembolic Stroke

“…The loss and degenerative changes of smooth muscle cells in blood vessels is a major histopathological feature of an intracranial aneurysm, and it is well known that intracranial aneurysms can easily rupture and produce subarachnoid hemorrhages [ 8 ]. Supporting our hypothesis, osteogenesis imperfecta caused by mutations in type I collagen genes ( COL1A1/COL1A2 ) is associated with hemorrhagic diathesis, and is also hypothesized to be associated with vascular fragility [ 32 , 33 ]. In addition, previous studies reported abnormalities in the cerebral arterial system in osteogenesis imperfecta [ 34 , 35 , 36 ].…”

Fatality owing to pulmonary hemorrhage following pamidronate disodium administration in a neonate with osteogenesis imperfecta type 2: A case report

“…Qualitative platelet abnormalities, such as impaired clot retraction, reduced ristocetin cofactor, abnormal platelet morphology (large platelets), and impaired aggregation capacity, have been reported. Several studies have reported that patients with OI show increased capillary fragility, reduced factor VIII-related antigens, prolonged thromboplastin time, and extended bleeding time on hemostatic testing ( 10 , 11 ). Patients with OI may also have an underlying early diastolic cardiac dysfunction that requires special attention ( 12 ).…”