Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment

• Published in: Calcified tissue international Vol. 92; no. 3; pp. 282 - 286
• Main Authors: Martini, Giuseppe, Mignarri, Andrea, Ruvio, Martina, Valenti, Roberto, Franci, Beatrice, Puppo, Marina Del, Federico, Antonio, Nuti, Ranuccio, Dotti, Maria Teresa
• Format: Journal Article
• Language: English
• Published: New York Springer-Verlag 01.03.2013; Springer Nature B.V
• Subjects: 25-Hydroxyvitamin D; Absorptiometry, Photon; Acids; Adolescent; Adult; Bile acids; Biochemistry; Biomedical and Life Sciences; Bone Density; Bone mass; Bone mineral content; Bone mineral density; Cell Biology; Chenodeoxycholic Acid - therapeutic use; Chenodiol; Cholestanol - blood; Collagen; Data processing; Dual energy X-ray absorptiometry; Endocrinology; Female; Fractures; Gastrointestinal Agents - therapeutic use; Humans; Intestinal absorption; Life Sciences; Male; Original Research; Orthopedics; Osteoporosis; Osteoporosis - etiology; Pathogenesis; Time; Vitamin D; Vitamin D - analogs & derivatives; Vitamin D - blood; Xanthomatosis; Xanthomatosis, Cerebrotendinous - blood; Xanthomatosis, Cerebrotendinous - complications; Xanthomatosis, Cerebrotendinous - drug therapy; Young Adult; Osteoporosis; Bone mineral density; Cerebrotendinous xanthomatosis; Chenodeoxycholic acid; 25-Hydroxyvitamin D
• ISSN: 0171-967X; 1432-0827; 1432-0827
• DOI: 10.1007/s00223-012-9677-3

Cerebrotendinous xanthomatosis (CTX) is known to be associated with osteoporosis and a higher incidence of bone fractures. However, the underlying pathogenesis is still unknown, and the effects of long-term replacement therapy with chenodeoxycholic acid (CDCA) on bone mineral density (BMD) have not been fully investigated. We studied 11 CTX patients aged 13–43 years. We performed dual-energy X-ray absorptiometry and assessed serum cholestanol and 25-hydroxyvitamin D (25-OHD) concentrations both at the time of diagnosis and after long-term treatment with CDCA. At baseline, we found low BMD in nine patients, cholestanol elevation in all subjects, and 25-OHD decrease in nine. After a mean follow-up time of 30 months (range 24–36), no substantial clinical changes including bone fractures occurred; and we detected a significant increase of both planar and volumetric BMD as well as normalization of plasma cholestanol levels and increase of serum 25-OHD. Densitometric improvement following CDCA introduction was not correlated to changes of biochemical parameters. Our study confirms the presence of low bone mass in CTX and demonstrates that long-term CDCA treatment increases bone mineral content. In this respect, improvement of vitamin D intestinal absorption secondary to bile acid restoration could play an important role. Moreover, our data strongly suggest the utility of periodic bone density evaluation in CTX patients.