Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis

Vladimir M. Berginer, Shraga Shany, Daphna Alkalay, Julia Berginer, Samuel Dekel, Gerald Salen, G. Stephen Tint, Dan Gazit

Research output: Contribution to journalArticlepeer-review

77 Scopus citations

Abstract

Significant osteoporosis determined by skeleton radiography and bone densitometry was found in 15 patients with cerebrotendinous xanthomatosis (CTX) whose mean age was 31 ± 11 years. In three CTX patients, bone biopsies confirmed osteoporosis. Nine patients also sustained bone fractures following minimal trauma. Serum 25-hydroxyvitamin D ([25-OHD] 14.6 ± 6.6 ng/mL v [normal] 30.4 ± 8.0 ng/mL; P < .001) and 24,25-dihydroxyvitamin D ([24,25(OH)2D] 1.2 ± 0.4 ng/mL v [normal] 2.7 ± 0.8 ng/mL; P < .001) and 24,25-dihydroxyvitamin D ([24,25(OH)2D] 1.2 ± 0.4 ng/mL v [normal] 2.7 ± 0.8 ng/mL; P < .001) levels were low. Serum concentrations of 1,25(OH)2D, calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone, and calcitonin were normal. Patients showed classic manifestations of CTX, including dementia, pyramidal and cerebellar insufficiency, peripheral neuropathy, cataracts, and tendon xanthomas associated with elevated serum cholestanol concentrations. These results demonstrate that extensive osteoporosis and increased risk of bone fractures are components of this inherited disease.

Original languageEnglish
Pages (from-to)69-74
Number of pages6
JournalMetabolism: Clinical and Experimental
Volume42
Issue number1
DOIs
StatePublished - 1 Jan 1993

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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