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Reduced bone density in cystic fibrosis: F508 mutation is an independent risk factor

Depts of ¹ Nutrition, ² Endocrinology and Diabetes, ³ Allergy, Immunology and Respiratory Medicine, Alfred Hospital, ⁴ Dept of Epidemiology and Preventive Medicine, Monash University, and ⁵ Depts of Diabetes and Endocrinology, and Medicine, Royal Melbourne Hospital, Melbourne, Australia

CORRESPONDENCE: S. J. King, Nutrition Dept, Alfred Hospital, Commercial Road, Melbourne, Victoria 3004, Australia. Fax: 61 392763029. E-mail: susannah.king@med.monash.edu.au

Keywords: Bone mineral density, cystic fibrosis, genotype, nutrition, osteoporosis

Received: April 28, 2004
Accepted August 24, 2004

The aim of this cross-sectional study was to determine the prevalence and identify determinants of reduced bone mineral density (BMD) in adults with cystic fibrosis (CF).

Adults (88) with CF (mean±SD age 29.9±7.7 yrs; forced expiratory volume in one second (FEV1) 58.2±21.5% of the predicted value) were studied. BMD at the lumbar spine (LS) and femoral neck (FN) and body composition were measured using dual-energy X-ray absorptiometry. Blood and urine were analysed for hormones, bone turnover markers, and the cytokines tumour necrosis factor-, and interleukin-6 and -1ß. FEV1 (% pred); CF genotype; malnutrition; history of growth, development or weight gain delays; and corticosteroid use were analysed.

BMD Z-scores were –0.58±1.30 (mean±SD) at the LS and –0.24±1.19 at the FN. Z-scores of <–2.0 were found in 17% of subjects. Subjects who were homozygous or heterozygous for the F508 mutation exhibited significantly lower Z-scores than those with no F508 allele. Multiple linear regression showed that the F508 genotype and male sex were independently associated with lower BMD at both sites. Other factors also independently associated with lower BMD included malnutrition, lower 25-hydroxyvitamin D level, lower fat-free mass and lower FEV1 (% pred).

In conclusion, reduced bone mineral density in cystic fibrosis is associated with a number of factors, including F508 genotype, male sex, greater lung disease severity and malnutrition.

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