Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France

Abstract

There is an increased risk of osteoporosis and an abnormal bone turn over in neurofibromatosis 1 (NF1). Our objective is to evaluate bone status in NF1 and to look for associations with cutaneous phenotype. We conducted a descriptive, monocentric study. We included 60 NF1 women, 18–51 years old, non-menopausal, divided in 2 groups: «at risk phenotype» (ARP) composed by 30 patients with at least 2 subcutaneous neurofibromas (SC-NF) and «classical phenotype» (CP) composed by 30 patients with none or 1 SC-NF. We evaluated low bone mineral density (BMD) risk factors and measured BMD, calcium and phosphorus homeostasis and bone turnover markers. Before 50 years old, Z-score has to be used to assess BMD. Z-score < − 2 is below expected range and represents 2.5% of the population. There was no difference between the two groups. Overall, Z-scores were low and 5 patients had a Z-score < − 2 (8.3%), which is 3 times general population low BMD frequency. 10 fragility fractures occurred in 8 patients, among which 2 were vertebral fractures. 85% had low calcium intake. 12 patients had hypophosphoremia, 25 elevated PTH. Vitamin D levels were low for 86.4%. 41 patients (69.5%) had at least one abnormal bone turnover markers. Low BMD is 3.3 times more frequent in NF1 than in general population, with high fracture risk, regardless of the skin phenotype, classical or at risk, because of high bone turn over and secondary hyperparathyroidism due to vitamin D deficiency and poor calcium intake.

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Funding

Funding was provided by Association Neurofibromatoses et von recklinghausen (Grant No. 45500euros).

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Correspondence to Maud Jalabert.

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Maud Jalabert, Salah Ferkal, Arthur Mageau, Laurence Allanore, Philippe Le Corvoisier, Florent Eymard, Emilie Sbidian declare that they have no conflict of interest. Xavier Chevalier declare he have conflict of interest with IBSA, Flexion Therapics, Pfizer, Sanofi and Nordic Pharma. Pierre Wolkenstein declare he have conflict of interest with AstraZeneca, Springworks, Laboratoire d’Uriage, Pierre Fabre Dermatologie. J.C. Souberbielle declare he have conflict of interest with DiaSorin, Roche diagnostics, Mylan, MSD, Lily, Effik, Iprad Pharma, Yoplait.

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All animal procedures were approved by the national French ethical committee.

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Jalabert, M., Ferkal, S., Souberbielle, JC. et al. Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France. Calcif Tissue Int (2021). https://doi.org/10.1007/s00223-021-00807-6

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Keywords

  • Neurofibromatosis
  • Von Recklinghausen disease
  • Osteoporosis
  • Bone turnover
  • Fracture