Osteoporosis in children and adolescents: when to suspect and how to diagnose it

Abstract

Early recognition of osteoporosis in children and adolescents is important in order to establish an appropriate diagnosis of the underlying condition and to initiate treatment if necessary. In this review, we present the diagnostic work-up, and its pitfalls, of pediatric patients suspected of osteoporosis including a careful collection of the medical and personal history, a complete physical examination, biochemical data, molecular genetics, and imaging techniques. The most recent and relevant literature has been reviewed to offer a broad overview on the topic. Genetic and acquired pediatric bone disorders are relatively common and cause substantial morbidity. In recent years, there has been significant progress in the understanding of the genetic and molecular mechanistic basis of bone fragility and in the identification of acquired causes of osteoporosis in children. Specifically, drugs that can negatively impact bone health (e.g. steroids) and immobilization related to acute and chronic diseases (e.g. Duchenne muscular dystrophy) represent major risk factors for the development of secondary osteoporosis and therefore an indication to screen for bone mineral density and vertebral fractures. Long-term studies in children chronically treated with steroids have resulted in the development of systematic approaches to diagnose and manage pediatric osteoporosis.

Conclusions: Osteoporosis in children requires consultation with and/or referral to a pediatric bone specialist. This is particularly relevant since children possess the unique ability for spontaneous and medication-assisted recovery, including reshaping of vertebral fractures. As such, pediatricians have an opportunity to improve bone mass accrual and musculoskeletal health in osteoporotic children.

What is known: • Both genetic and acquired pediatric disorders can compromise bone health and predispose to fractures early in life. • The identification of children at risk of osteoporosis is essential to make a timely diagnosis and start the treatment, if necessary.

What is new: • Pediatricians have an opportunity to improve bone mass accrual and musculoskeletal health in osteoporotic children and children at risk of osteoporosis. • We offer an extensive but concise overview about the risk factors for osteoporosis and the diagnostic work-up (and its pitfalls) of pediatric patients suspected of osteoporosis.

Keywords: Bone health; DXA; Osteoporosis; Pediatrics; Primary osteoporosis; Secondary osteoporosis.

Fig. 1

a Male adolescent with backpain, no history of trauma reported. Lateral radiograph of the spine shows a vertebral fracture of the 12^th thoracic vertebra. There is a 35% loss of height, in keeping with a grade 2 fracture according to the Genant classification (moderate fracture, 25 to 40% loss of height). The 11^th thoracic vertebra and the 1^st lumbar vertebra also show mild wedging; measurements are not shown to prevent clutter of the image. b Girl with juvenile osteoporosis. Lateral radiograph of the spine shows multiple fractures. Measurement shows a 34% loss of height, in keeping with a grade 2 fracture according to the Genant classification (moderate fracture, 25 to 40% loss of height)

Fig. 2

Infant with Osteoporosis-pseudoglioma syndrome (LRP5 mutation) treated with bisphosphonates. a Lateral spine radiograph shows multiple vertebral fractures of the thoracic and lumbar spine. There are dense vertebral endplates as a result of bisphosphonate treatment. b Although DXA of the lumbar spine shows a low BMD, it is underestimating the severity of the disease due to the loss of height and the increased density of the vertebral endplates. c Automated DXA vertebral fracture assessment (VFA)

Fig. 3

Diagnostic work-up in a child suspected of osteoporosis