Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study

Valentina Giorgio, Donato Rigante, Giuseppe Zampino, Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Miriam Massese, Fabio Corbo, Clelia Cipolla, C Bisanti, A Acampora, E Flex, C Dell’Atti, M Tartaglia

Research output: Contribution to journalArticle


Costello syndrome (CS) is a neurodevelopmental disorder with a distinctive musculo-skeletal phenotype and reduced bone mineral density (BMD) caused by activating denovo mutations in theHRASgene. Herein, we report the results of a prospectivestudy evaluating the efficacy of a 4-year vitamin D supplementation on BMD andbone health. A cohort of 16 individuals ranging from pediatric to adult age withmolecularly confirmed CS underwent dosages of bone metabolism biomarkers(serum/urine) and dual-energy X-ray absorptiometry (DXA) scans to assess bone andbody composition parameters. Results were compared to age-matched controlgroups. At baseline evaluation, BMD was significantly reduced (p≤0.05) comparedto controls, as were the 25(OH)vitD levels. Following the 4-year time interval, despitevitamin D supplementation therapy at adequate dosages, no significant improvementin BMD was observed. The present data confirm that 25(OH)vitD and BMD parame-ters are reduced in CS, and vitamin D supplementation is not sufficient to restoreproper BMD values. Based on this evidence, routine monitoring of bone homeostasisto prevent bone deterioration and possible fractures in adult patients with CS ishighly recommended
Original languageEnglish
Pages (from-to)422-430
Number of pages9
Publication statusPublished - 2022


  • Costello syndrome


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