Abstract
BackgroundPregnancy and breastfeeding are associated with bone density loss. Fracture occurrence during pregnancy and post-partum, and its determinants, remain poorly known in Osteogenesis Imperfecta (OI). The aim of this study was to characterize fractures that occurred during pregnancy and post-partum in OI patients.ResultsWe conducted a retrospective multicentric study including a total of 50 previously pregnant OI women from 10 Bone Centers in France. Among these patients, 12 (24%) patients experienced fractures during pregnancy or in the 6 months following delivery, and 38 (76%) did not experience any fracture. The most frequent localizations were: proximal femur (25%), spine (25%), distal femur (12.5%), and pelvis (12.5%). Fractures during pregnancy occurred during the third trimester and post-partum fractures occurred with a mean delay of 2 months following delivery. No fractures occurred during childbirth.We next compared the 12 patients with pregnancy or post-partum fractures with the 38 patients without fractures. Mean age at pregnancy was 32.7 ± 3.1 years-old in the fractured group, vs 29.3 ± 5.0 years-old in the non-fractured group (p = 0.002). Breastfeeding was reported in 85.7% of patients in the fractured group, vs 47.1% in the non-fractured group (p = 0.03). All patients with post-partum fractures were breastfeeding. Bone mineral density was significantly lower in patients with pregnancy-related fractures compared with other patients: spine Z-score − 2.9 ± 1.6DS vs − 1.5 ± 1.7DS (p = 0.03), and total hip Z-score − 2.0 ± 0.7DS vs − 0.5 ± 1.4DS (p = 0.04). At least one osteoporosis-inducing risk factor or disease other than OI was identified in 81.8% vs 58.6% of fractured vs non-fractured patients (not significant). Fracture during pregnancy or post-partum was not associated with the severity of OI. Bisphosphonates before pregnancy were reported in 16.7% and 21.1% of patients with pregnancy-related fractures and non-fractured patients, respectively (not significant).ConclusionsOI management during pregnancy and post-partum should aim for optimal control of modifiable osteoporosis risk factors, particularly in patients with low BMD. Breastfeeding should be avoided.
Highlights
Osteogenesis Imperfecta (OI) is a primary bone fragility disorder with an estimated prevalence of 1/15,000 births
OI management during pregnancy and post-partum should aim for optimal control of modifiable osteoporosis risk factors, in patients with low bone mineral density (BMD)
The main features of the disease are low bone mineral density (BMD) and increased bone fragility, resulting in multiple fractures occurring for minor trauma [7, 8]
Summary
Osteogenesis Imperfecta (OI) is a primary bone fragility disorder with an estimated prevalence of 1/15,000 births. Koumakis et al Orphanet Journal of Rare Diseases (2022) 17:22 type I collagen subunits, a major protein of the bone extracellular matrix [1, 2]. “A number of other genes have been identified more recently and the majority of them encode proteins involved in post-translational modifications of type I collagen. Dominant or X-linked forms of OI are rare (5%, 22 genes, reviewed in Marini et al [4] and Mortier et al [5]) and no molecular basis is found in approximately 10% of OI cases. The main features of the disease are low bone mineral density (BMD) and increased bone fragility, resulting in multiple fractures occurring for minor trauma [7, 8]. The aim of this study was to characterize fractures that occurred during pregnancy and post-partum in OI patients
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