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.

Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 / Modica, R.; Altieri, B.; D'Aniello, F.; Benevento, E.; Cannavale, G.; Minotta, R.; Liccardi, A.; Colao, A.; Faggiano, A.. - In: METABOLITES. - ISSN 2218-1989. - 13:2(2023). [10.3390/metabo13020255]

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

Modica R.;Benevento E.;Minotta R.;Colao A.;Faggiano A.
2023

Abstract

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.
2023
Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1 / Modica, R.; Altieri, B.; D'Aniello, F.; Benevento, E.; Cannavale, G.; Minotta, R.; Liccardi, A.; Colao, A.; Faggiano, A.. - In: METABOLITES. - ISSN 2218-1989. - 13:2(2023). [10.3390/metabo13020255]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/952296
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