Bone mineral density in sixty adult patients with Marfan Syndrome

Sixty adult patients (40 women, 20 men) with Marfan syndrome (MFS) accordin g to the Berlin criteria had a full clinical examination and bone mineral d ensity (BMD) measurement by dual-energy X-ray absorptiometry of the hip and nondominant forearm. BMD was expressed as a Z-score and compared with the reference population of the Hologic database. In MFS men, BMD (g/cm(2)) was compared with the BMD of 45 normal tall Caucasian adults. Osteocalcin was measured by radioimmunoassay. In patients with MFS, BMD was compared betwee n patients with and without previous fractures and according to the phenoty pic severity of MFS. The mean age of the patients was 32.9 +/- 9.3 years (w omen 32.5 +/- 9.7, men 33.4 +/- 8.6), mean height was 180.3 +/- 10.3 cm (wo men 176.3 +/- 9.2, men 188.1 +/- 7.5) and mean body mass index 20.9 +/- 3.6 kg/m(2) (women 20.8 +/- 3.4, men 20.95 +/- 3.97). Hyperlaxity score (Beigh ton criteria) was 6.9 +/- 1.1, Six patients (10%) had a previous fracture. Thirty per cent of patients had had at least one previous operation for sco liosis, aortic dilatation or eye problems. BMD values in the 60 patients we re as follows: Z-score of the hip, -1.26 +/- 0.91, p<10(-9) (neck, -0.93 +/ - 1.09, p<10(-9) trochanter, -1.31 +/- 0.85, p<10(-9) intertrochanter, -1.3 9 +/- 0.99, p<10(-9); Ward's triangle, -0.93 +/- 1.88, p<10(-9)); Z-score d f the radius: -1.6 +/- 1.06, p<10(-9) (1/3 proximal, -1.29 +/- 1.03; mid-ra dius, -1.94 +/- 1.04; ultradistal, -0.68 +/- 1.1, p<10(-9)). The decrease i n BMD was similar in men and women at both the hip and the radius. BMD in M FS patients was significantly decreased at cortical compared with trabecula r sites (radius 1/3 proximal vs ultradistal, p<0.0001; total femur vs Ward' s triangle, p<0.0005). No difference in BMD was found between MFS patients with or without previous fractures and those with severe or less severe phe notypic expression of MFS. An influence of height and weight in MFS on BMD is suspected. Osteocalcin was not increased in our group of MFS patients. T hus both men and women with MFS have a significant deficit of BMD at the hi p and radius. The decrease in BMD is present equally in both sexes and is m ore pronounced at predominantly cortical sites. In our group of patients we found no increase in fractures and no relation between decreased BMD and p henotypic expression of the syndrome.