86 ISTH-BAT bleeding scores Normal ISTH-BAT scores for males are <4 and <6 in females 18. Abnormal values were found in 18% (n = 4) of the patients, three of whom appeared to be OI type 1, and one patient was OI type 4. We found a wide range of bleeding scores, 0-7 in males, 0-9 in females, and only 25% (n = 5) of the scores were 0 (Figure 1), with a median score of for males, and 1 for females. No correlations were seen between age and score within the population (Pearson correlation 0.084), or between OI type and score (Pearson correlation 0.160). Patients 1-4 had a bleeding tendency according to the BS and reported different symptoms (Table 1). Patient 1 reported haematochezia with unknown cause, menorrhagia for which no intervention was required, excessive bleeding during surgery and bleeding after a caesarean section that required blood transfusion. She had OI type 1 due to a c.859-1G>A pathogenic variant in the COL1A1 gene. Patient 2 reported excessive bleeding that required blood transfusion after orthopaedic surgeries. He had OI type 1 due to a c.2413G>C; p.Gly805Arg pathogenic variant in COL1A2. Patient 3 reported frequent spontaneous epistaxis with a bleeding episode that lasted more than 10 min, easy bruising above the score limit with 5 or more bruises (>1 cm) in exposed areas, excessive bleeding requiring procoagulant therapy after surgery, a muscle haematoma after trauma and an excessive umbilical stump bleeding after birth, for which two surgeries were required. She had OI type 4 due to a c.1171G>A; p.Gly391Ser pathogenic variant in COL1A2. Patient 4 reported frequent prolonged bleeding after dental extraction for which extra dental packing and stitching was necessary, as well as an excessive bleed after ear, nose and throat surgery, which required re-surgery and procoagulant therapy. He has OI type 1 due to a COL1A1 c.3076C>T; p (Arg1026*) pathogenic variant. Figure 2 Summary of the patient’s answers to the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) questionnaire. Responses (n) shown No Yes Leading to bleeding score points Have you ever had (…) spontaneous epistaxis? (...) an cutaneous bleeding? (Bruising, (...) a small persistend bleeding? (...) haematuria? (...) gastrointestinal bleeding? (...) oral cavity bleeding? (...) bleeding after tooth (teeth) extraction? (...) bleeding after surgery or major trauma (...) muscle haematomas? (...) haemarthrosis? (...) cranial or spinal bleeding? (...) very heavy menstrual bleeding (...) post-partum haemorrhage? 13 14 19 0 0 18 18 18 18 7 4 7 6 17 16 16 14 2 1 1 1 1 3 3 5 2 1 1 1 1 3 3 5 5 3 6 1 ... ... ...
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