This protocol covers the management of a pediatric patient with Friedreich ataxia who has sustained at least one clinically significant fragility fracture — including cases where bone mineral density has not yet reached the commonly used threshold of a Z-score of −2.0 or lower.
A child with Friedreich ataxia presenting with at least one clinically significant fragility fracture, who may not yet meet the aBMD Z-score criterion of −2.0 or lower. The occurrence of a fragility fracture in this setting warrants active consideration of bone-protective treatment regardless of whether that Z-score threshold has been reached.
Anti-resorptive therapy is conditionally recommended in this scenario and should be initiated and supervised by a clinician with relevant specialist expertise. The complete management protocol — including specific agent selection, monitoring, and clinical guidance — is available via the link below.
DOI: 10.1186/s13023-022-02568-3
We conditionally recommend anti-resorptive (bisphosphonate) therapy for children with Friedreich ataxia who may not yet have an aBMD Z-score of −2.0 or lower, but have at least one clinically significant fragility fracture. We recommend that treatment be undertaken by a clinician with relevant expertise, such as a pediatric endocrinologist.
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