87 Chapter 4 Bleeding symptoms were generally mild, and most frequently consisted of easy bruising in 74% (n = 14), but only 16% (n = 3) were above the score limit with 5 or more bruises (>1 cm) in exposed areas (Fig 2.) No correlations were found between the bleeding score and VWD, FVIII, aPTT and fibrinogen values (Pearson correlation 0.117, 0.182, 0.140, 0.018, respectively) As such, none of these laboratory results were predictive for the bleeding score in this cohort. Although the platelet count was normal (>150 x 109/l) in all patients, 2 of the 4 patients with high bleeding scores levels had a platelet count below 200 x 109/l, while the mean platelet count was 275 x 109/I. Platelet count, APTT, PT, Fibrinogen, VWF, FVIII Routine coagulation parameters were analysed (Table 3). Platelet counts and PT levels were normal in all patients. Fibrinogen was abnormal in two patients; both of these patients had no other abnormalities in their blood tests or questionnaires. One patient was diagnosed with VWD type I. None of the patients had FVIII levels <50%. High FVIII activity (>150%) was found in nine patients (Table 1). Table 3 General coagulation findings in OI Test Reference range Abnormal findings/ Patients studied (n/N) OI patients Mean (SD) 95% CI aPTT 20–35 s 0/22 27.3 (2.7) 26.2–28.4 Prothrombin time 0.9–1.1 0/22 1.032 (0.0478) 1.00–1.05 Platelet count 150–400 X 109/l 0/22 273.6 (72.4) 245.1–306.21 Factor VIII 60–150% 9/22 128 (49.9) 108.2-152.2 Fibrinogen 2.0–4.0 g/l 2/22 3.0 (0.58) 2.8–3.3 Abbreviations: aPTT, activated partial thromboplastin time; OI, Osteogenesis imperfecta; SD, standard deviation. PFA-100 - Platelet function Mild platelet function disorders were found in two cases (9%), which did not correlate with the ISTHBAT scores or the ROTEM results. However, these patients did report easy bruising. One of these patients had VWD type I. This correlated with elevated epinephrine (EPI)/ adenosine diphosphate ADP) values, as the PFA-100 analyser is very sensitive for VWD 27. This patient had an ISTH-BAT score of only 2 and no ROTEM abnormalities (Table 1). A second patient with elevated EPI/ADP values did report family member(s) with a bleeding tendency but did not have VWD. This patient had an ISTH-BAT score of one point on the excessive bruising and no other abnormal values. There were no significant differences in laboratory values between males and females. No differences were found between the different OI types.
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