Osteoporotic Vertebral Fractures During Pregnancy: Be Aware of a Potential Underlying Genetic Cause

Campos‐Obando, Natalia; Oei, Ling; Hoefsloot, Lies H.; Kiewiet, Rosalie M.; Klaver, Caroline C.W.; Simon, Marleen; Zillikens, M. Carola

doi:10.1210/jc.2013-3238

Cited by 45 publications

(25 citation statements)

References 26 publications

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“…An age‐related decrease in osteoblast response to PTH or differences in IGF‐1 level can be postulated as a relevant mechanism of the association between younger age and greater BMD increases in patients with PLO, but these speculations need verification . Although we excluded cases with newly diagnosed osteogenesis imperfecta from the study, potential genetic underlying causes, such as a heterozygous LRP5 mutation, in study subjects cannot be ruled out …”

Section: Discussionmentioning

confidence: 99%

Changes in bone mineral density and bone turnover markers during treatment with teriparatide in pregnancy‐ and lactation‐associated osteoporosis

Hong

Kim

Lee

et al. 2018

Clinical Endocrinology

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Section: Discussionmentioning

confidence: 99%

Changes in bone mineral density and bone turnover markers during treatment with teriparatide in pregnancy‐ and lactation‐associated osteoporosis

Hong

Kim

Lee

et al. 2018

Clinical Endocrinology

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“…The rationale of using established clinical risk factors for fragility fracture, such as thin complexion, or others included in the risk assessment scales (81), may be an option, but it has not been tested. A possible genetic background has been suggested after some reports of familial aggregation (79,82,83).…”

Section: Clinical Presentationmentioning

confidence: 99%

ENDOCRINOLOGY IN PREGNANCY: Bone metabolic changes during pregnancy: a period of vulnerability to osteoporosis and fracture

Sanz-Salvador

Garcı́a-Pérez

Tarı́n

et al. 2015

European Journal of Endocrinology

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Changes in bone density and bone markers suggest that pregnancy is associated with deterioration of bone mass in the mother. The metabolism of calcium resets to allow for the needs imposed by the building of the fetal skeleton. The fetus contributes to the process through the output of regulators from the placenta. Understanding of the whole process is limited, but some changes are unambiguous. There is an increase in the circulating levels of vitamin D, but its functional impact is unclear. Fetal parathyroid hormone (PTH) and PTH-related peptide (PTHrp) play an indirect role through support of a calcium gradient that creates hypercalcemia in the fetus. Placental GH, which increases up to the end of pregnancy, may exert some anabolic effects, either directly or through the regulation of the IGF1 production. Other key regulators of bone metabolism, such as estrogens or prolactin, are elevated during pregnancy, but their role is uncertain. An increase in the ratio of receptor activator of nuclear factor kappa B ligand (RANKL) to osteoprotegerin (OPG) acts as an additional pro-resorbing factor in bone. The increase in bone resorption may lead to osteoporosis and fragility fracture, which have been diagnosed, although rarely. However, the condition is transitory as long-term studies do not link the number of pregnancies with osteoporosis. Prevention is limited by the lack of identifiable risk factors. When fractures are diagnosed, rest, analgesics, or, when indicated, orthopedic intervention have demonstrated efficacy. Systemic treatment with anti-osteoporotic drugs is effective, but the potential harm to the fetus imposes caution in their use.

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“…Campos-Obando N. (2014) reported a single case of a 27-year old patient who during her 7-month of pregnancy who obtained a mid-thoracic pain after lifting an object. DNA analysis determined two compound heterozygous missense mutations in the LRP5 gene [60]. This raises the question that although fractures and osteoporosis during pregnancy are not common, should patients with a family history of osteoporosis be genetically screened before conception?…”

Section: Lrp Mutations In Bone Related Diseasesmentioning

confidence: 99%

LRP receptor family member associated bone disease

Lara-Castillo

Johnson

2015

Rev Endocr Metab Disord

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A dozen years ago the identification of causal mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene involved in two rare bone disorders propelled research in the bone field in totally new directions. Since then, there have been an explosion in the number of reports that highlight the role of the Wnt/β-catenin pathway in the regulation of bone homeostasis. In this review we discuss some of the most recent reports (in the past 2 years) highlighting the involvement of the members of the LRP family (LRP5, LRP6, LRP4, and more recently LRP8) in the maintenance of bone and their implications in bone diseases. These reports include records of new single nucleotides polymorphisms (SNPs) and haplotypes that suggest variants in these genes can contribute to subtle variation in bone traits to mutations that give rise to extreme bone phenotypes. All of these serve to further support and reinforce the importance of this tightly regulated pathway in bone. Furthermore, we discuss provocative reports suggesting novel approaches through inhibitors of this pathway to treat rarer diseases such as Osteoporosis-Pseudoglioma Syndrome (OPPG), Osteogenesis Imperfecta (OI), and Sclerosteosis/Van Buchem disease. It is hoped that by understanding the role of each component of the pathway and their involvement in bone diseases that this knowledge will allow us to develop new, more effective therapeutic approaches for more common diseases such as post-menopausal osteoporosis, osteoarthritis, and rheumatoid arthritis as well as these rarer bone diseases.

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Osteoporotic Vertebral Fractures During Pregnancy: Be Aware of a Potential Underlying Genetic Cause

Cited by 45 publications

References 26 publications

Changes in bone mineral density and bone turnover markers during treatment with teriparatide in pregnancy‐ and lactation‐associated osteoporosis

Changes in bone mineral density and bone turnover markers during treatment with teriparatide in pregnancy‐ and lactation‐associated osteoporosis

ENDOCRINOLOGY IN PREGNANCY: Bone metabolic changes during pregnancy: a period of vulnerability to osteoporosis and fracture

LRP receptor family member associated bone disease

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