Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a genetic multisystemic autosomal dominant disorder determining reduced life expectancy due to higher risk of developing benign and malignant tumors. Low levels of vitamin D and reduced bone mineral density (BMD) have been reported in young patients with NF1. Howeve...

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Published in:Metabolites 2023-02, Vol.13 (2), p.255
Main Authors: Modica, Roberta, Altieri, Barbara, D'Aniello, Francesco, Benevento, Elio, Cannavale, Giuseppe, Minotta, Roberto, Liccardi, Alessia, Colao, Annamaria, Faggiano, Antongiulio
Format: Article
Language:English
Subjects:
Alfacalcidol
Body mass index
bone metabolism
Bone mineral density
Bone tumors
Bone turnover
Bones
Calcifediol
Calcium phosphates
Cell growth
Genetic disorders
Genotypes
Health aspects
Hereditary diseases
Life span
Medical research
Medicine, Experimental
Metabolism
Mutation
Neurofibromatosis
neurofibromatosis type 1
Neurological disorders
Nutrient deficiency
Osteoporosis
Parathyroid hormone
Pathogenesis
Phenotypes
Phosphorus
Physiological aspects
Recklinghausen's disease
Statistical analysis
tumor
Tumors
Vitamin D
Vitamin deficiency
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Summary:Neurofibromatosis type 1 (NF1) is a genetic multisystemic autosomal dominant disorder determining reduced life expectancy due to higher risk of developing benign and malignant tumors. Low levels of vitamin D and reduced bone mineral density (BMD) have been reported in young patients with NF1. However, correlation between vitamin D and NF1 phenotype needs to be elucidated. Aim of this study was to assess vitamin D levels and bone metabolism in NF1 patients, analyzing potential correlations with clinical phenotype. A cross-sectional study was carried out in a monocentric series of NF1 patients, evaluating genotype, clinical phenotype, BMD, biochemical evaluation with focus on serum 25OH-vitamin D, parathyroid hormone (PTH), calcium and phosphate levels. Correlations between clinical manifestations, neurofibromas, and vitamin D status have been studied in comparison with healthy controls. 31 NF1 adult patients were matched for sex, age and body mass index with 31 healthy controls. A significantly difference in vitamin D level emerged in NF1 patients compared to controls. Interestingly low vitamin D levels correlated with a more aggressive phenotype and with a bigger size of neurofibromas. These data underline that vitamin D deficiency/insufficiency may play a role in clinical severity of neurofibromas in patients with NF1, suggesting the need to check bone status and replace vitamin D in these patients.
ISSN:2218-1989
2218-1989
DOI:10.3390/metabo13020255