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Progressive bone impairment with age and pubertal development in neurofibromatosis type I
Giulia Rodari1, G Scuvera2, F M Ulivieri3
1Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Giulia.Rodari@unimi.it.
Insights
Children with neurofibromatosis type 1 (NF-1) show declining bone density during growth and puberty. Early intervention in childhood is crucial for achieving peak bone mass in NF-1 patients.
Area of Science:
- Pediatric Endocrinology
- Bone Metabolism
- Genetics
Background:
- Neurofibromatosis type 1 (NF-1) is associated with bone density impairment in adults.
- Limited data exist regarding bone health in pediatric NF-1 populations.
- Bone mass naturally decreases with age and pubertal development, highlighting childhood as a critical period for intervention.
Purpose of the Study:
- To evaluate bone mineral density (BMD) in children with NF-1.
- To assess changes in BMD during growth and pubertal development in pediatric NF-1 patients.
Main Methods:
- Dual-energy X-ray absorptiometry (DXA) scans of the total body and lumbar spine were performed on 50 children (mean age 11.6 years).
- Bone metabolic markers, bone mineral apparent density (BMAD), trabecular bone score (TBS), and bone strain (BS) were analyzed.
- Morphometric analysis of the lumbar spine was included.
Main Results:
- 88% of patients had below-average areal BMD (aBMD) at the lumbar spine and 86% at the total body.
- After correction for bone size, 12% of patients showed aBMD Z-score below -2 at both lumbar spine and total body.
- Lumbar spine aBMD Z-score, LS BMAD Z-score, and total body Z-score negatively correlated with growth and pubertal development, indicating impaired bone mass accrual.
Conclusions:
- Bone density impairment in NF-1 patients worsens with growth and puberty.
- Childhood is the optimal time to implement preventive strategies for achieving peak bone mass in NF-1.
- TBS and BS may aid in longitudinal monitoring of bone impairment in pediatric NF-1.
Abstract:
Bone density impairment represents an established complication in adults with neurofibromatosis type 1, while few data exist in the pediatric population. Age- and gender-adjusted bone mass decreases with age and pubertal development, identifying childhood as the best time frame to introduce prevention strategies aiming at peak bone mass achievement.
Purpose:
The present study aims at evaluating bone mineral density (BMD) in a population of children with neurofibromatosis type I (NF-1), with particular focus on changes occurring during growth and pubertal development.
Methods:
Bone metabolic markers and bone status [by dual-energy X-ray absorptiometry scans (DXA) of the total body and lumbar spine with morphometric analysis] were assessed in 50 children (33 males; mean age ± SD, 11.6 ± 4 years). Bone mineral apparent density (BMAD), trabecular bone score (TBS), and bone strain (BS) of the lumbar spine (LS) DXA were also obtained.
Results:
In our cohort areal BMD (aBMD) Z-score was below the mean in 88% of the patients at LS (70% after correction for bone size) and in 86% considering total body (TB) DXA. However, aBMD Z-score was < - 2 in 12% after correction for bone size at LS and TB, respectively. Lumbar spine aBMD Z-score (r = - 0.54, P < 0.0001), LS BMAD Z-score (r = - 0.53, P < 0.0001), and TB Z-score (r = - 0.39, P = 0.005) showed a negative correlation with growth and pubertal development (P = 0.007, P = 0.02, P = 0.01, respectively), suggesting that patients failed to gain as much as expected for age.
Conclusion:
Bone density impairment becomes more evident with growth and pubertal development in NF-1 patients, thus identifying childhood as the best time frame to introduce prevention strategies aiming at peak bone mass achievement. TBS and BS, providing bone DXA qualitative information, could be useful during longitudinal follow-up for better characterizing bone impairment in these patients.
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