THE BONE-MINERAL STATUS OF PATIENTS WITH MARFAN-SYNDROME

Osteopenia at the hip and low total body calcium content have been rep orted in women,vith Marfan syndrome, Using dual X-ray absorptiometry ( DXA), we evaluated the lumbar spine L2-L4 and proximal femur bone mine ral density (BMD, g/cm(2)) in 32 women and 16 children with Marfan syn drome. The women were 38 +/- 10 (SD) years old (23-58 years); their me an height was 178.6 +/- 8 cm. The children (9 boys and 5 girls) were 9 .9-17.5 years old, Children were tall for their ages but of normal wei ght, All subjects were moderately active without previous nontraumatic fracture, In the women, BMD was reduced at L2-L4, femoral neck (fnk), trochanter (tr), and intertrochanter (intr) (p < 0.0001-0.006), compa red with age-predicted values, Z stores for L2-L4 and for the fnk, tr, and intr, were -0.59 +/- 1.06, -1.25 +/- 0.99, -1.03 +/- 1.10, and -1 .31 +/- 0.91, respectively, The average hip axis length (HAL) of 11.5 +/- 0.093 cm was at the 80th percentile for women, No significant chan ge,vas observed in 1 year follow-up BMD measurements in 13 women (fnk = -0.23 +/- 2.3%/year; L2-L4 = -0.43 +/- 1.57%/year), In Marfan childr en, BMD correlated with age, height, and pubertal development, Femoral neck BMD was reduced (Z = -0.74 +/- 1.22, p < 0.05) with a nonsignifi cant trend toward decreased BMD at L2-L4 (Z = -0.33 +/- 1.48). Resorpt ion markers in Marfan women were normal and did not correlate with bon e status. We conclude that women with Marfan syndrome have both axial and peripheral osteopenia as well as an increased HAL, This combinatio n of findings likely increases substantially their long-term risk for hip fracture. Presence of osteopenia in Marfan children indicates that the skeletal deficits of Marfan syndrome may reflect inadequate bone acquisition.