Kohlmeier L, Gasner C, Marcus R
Division of Endocrinology, Stanford University Medical Center, California.
Am J Med. 1993 Dec;95(6):568-72. doi: 10.1016/0002-9343(93)90351-o.
With effective surgical correction of vascular abnormalities, skeletal health is an important issue for patients with Marfan syndrome. Osteopenia has been radiographically described, yet no systematic evaluation of bone status has been published. The purpose of this study was to determine the bone mineral density (BMD, g/cm2) in women with Marfan syndrome.
Seventeen women, 37.2 +/- 7.3 years old, with Marfan syndrome were studied. Dual energy x-ray absorptiometry (DXA) was used to measure BMD at the lumbar spine (L2-L4), proximal femur, and total body in all subjects. Scoliosis scores were assigned from 0 (no curvature) to 3 (severe curvature).
Highly significant deficits in BMD were observed at the proximal femur (p = 0.0001) as well as of the whole body (p < 0.05). Femoral neck BMD Z-score (mean +/- SD) = -1.36 +/- 0.94, trochanter Z = -1.07 +/- 0.80, and intertrochanter Z = -1.44 +/- 0.71; whole-body BMD Z-score = -0.30 +/- 0.16. BMD at L2-L4, however, did not differ from age-predicted values, Z = -0.48 +/- 1.16. There was no significant association between BMD and scoliosis, nor between BMD and fracture history. To correct for bone size, the bone mineral apparent density (BMAD, g/cm3) was calculated. The femoral neck BMAD values (mean +/- SD) were significantly lower than predicted (0.125 +/- 0.02 versus 0.147 +/- 0.001 g/cm3, p < 0.001). All subjects had normal menarche, and 15 reported regular menses. There was no history of nontraumatic fracture.
Women with Marfan syndrome have bone deficits at the proximal femur as well as of the whole body. This deficit is not related to scoliosis and persists when corrected for bone size. Women with Marfan syndrome may be at increased risk for proximal femoral fracture.
随着血管异常的有效手术矫正，骨骼健康对于马凡综合征患者而言是一个重要问题。影像学上已描述了骨质减少的情况，但尚未发表关于骨状态的系统评估。本研究的目的是确定马凡综合征女性的骨密度（BMD，g/cm²）。
对17名年龄为37.2±7.3岁的马凡综合征女性进行了研究。所有受试者均采用双能X线吸收法（DXA）测量腰椎（L2-L4）、股骨近端和全身的骨密度。脊柱侧弯评分从0（无弯曲）到3（严重弯曲）进行赋值。
在股骨近端（p = 0.0001）以及全身（p < 0.05）观察到骨密度存在高度显著的降低。股骨颈骨密度Z值（均值±标准差）=-1.36±0.94，大转子Z值=-1.07±0.80，转子间Z值=-1.44±0.71；全身骨密度Z值=-0.30±0.16。然而，L2-L4的骨密度与年龄预测值无差异，Z值=-0.48±1.16。骨密度与脊柱侧弯之间、骨密度与骨折史之间均无显著关联。为校正骨大小，计算了骨矿物质表观密度（BMAD，g/cm³）。股骨颈BMAD值（均值±标准差）显著低于预测值（0.125±0.02对比0.147±0.001 g/cm³，p < 0.001）。所有受试者月经初潮正常，15人报告月经规律。无非创伤性骨折史。
马凡综合征女性在股骨近端以及全身存在骨质不足。这种不足与脊柱侧弯无关，校正骨大小后依然存在。马凡综合征女性可能股骨近端骨折风险增加。
