Osteoporosis of genetic origin: a literature review
Numerous cases of genetic (primary) osteoporosis are reported in the literature, thanks to the in-depth investigation of suspicious scenarios, where a child or young adult presents with bone fragility. Thorough diagnostic work up is required in order to exclude more frequent, treatable, secondary causes of osteoporosis (e.g. leukaemia or Crohn’s disease). When first line investigations exclude secondary osteoporosis and in the presence of specific clinical clues (e.g. blue sclerae, joint laxity) or of a suspicious family history of early onset osteoporosis, a genetic work up should be undertaken. There are many new genes implicated in the pathogenesis of primary osteoporosis, playing different roles in bone formation and/or resorption, depending on the metabolic bone path involved. The greater understanding of the complexity of bone metabolism opens new research roads for new, gene-specific treatments. Herein, the latest literature data on the osteoporosis of genetic origin are being presented. Emphasis is also given on the importance of lateral thinking, when it comes to children and young adults whose fracture history is remarkable and cannot be attributed solely to injury. Finally, the importance of not missing significant chronic disorders leading to osteoporosis is also highlighted.
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