本研究旨在评估纤维发育不良/McCune-Albright综合征(FD/MAS)患者中coxavara畸形的患病率和危险因素。这项研究是在美国国立卫生研究院和莱顿大学医学中心进行的。所有具有任何亚型FD/MAS的患者,涉及股骨近端的FD,包括≥1张X射线和年龄<30岁。X线对颈轴角度(NSA)进行评分。内翻畸形定义为NSA<110o或>10o低于特定年龄值。通过巢式病例对照分析评估畸形的危险因素,比较有和没有畸形的患者和股骨,通过线性混合效应模型,在≥2次X射线的非手术股骨中,对NSA的时间减少(NSA的自然过程)进行建模。评估变量包括生长激素过量,甲状腺功能亢进,低磷酸盐血症,>25%的股骨受影响,calcar销毁,射线可透性和双侧受累。总共研究了180名患者,57%的女性。平均基线年龄为13.6(±SD7.5)岁;中位随访5.4(IQR11.1)年。63%被诊断为MAS。94例患者双侧受影响;分析了274个FD股骨;99个股骨有内翻畸形(36%)。在嵌套的案例控制分析中,危险因素是:MAS的存在(p<0.001),甲状腺功能亢进(p<0.001),低磷血症(p<0.001),股骨受影响的百分比高(p<0.001),calcar破坏(p<0.001)。线性混合效应模型包括114个股骨,确定的危险因素是:生长激素过量(β=7.2,p=0.013),甲状腺功能亢进(β=11.3,p<0.001),>25%的股骨受影响(β=13.2,p=0.046),calcar破坏(β=8.3,p=0.004),射线可透性(β=3.9,p=0.009),双侧受累(β=9.8,p=0.010)。如果NSA<120o,年龄<15岁,则模型图的视觉检查显示出畸形的大部分进展。总之,在三级护理中心,FD/MAScoxavara畸形的患病率为36%。危险因素包括MAS的存在,受影响的股骨比例很高,calcar销毁,射线可透性,NSA<120岁,年龄<15岁。本文受版权保护。保留所有权利。
This
study aimed to evaluate the prevalence of and risk factors for coxa vara deformity in patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS). This
study was conducted at the National Institutes of Health and Leiden University Medical Center. All patients with any subtype of FD/MAS, FD involving the proximal femur, one or more X-rays available and age <30 years were included. X-rays were scored for the neck-shaft angle (NSA). Varus deformity was defined as NSA <110 degrees or >10 degrees below age-specific values. Risk factors for deformity were assessed by nested case-control analysis, comparing patients and femurs with and without deformity, and by linear mixed effects model, modeling temporal NSA decrease (the natural course of the NSA) in non-operated femurs with two or more X-rays. Assessed variables included growth hormone excess, hyperthyroidism, hypophosphatemia, >25% of the femur affected, calcar destruction, radiolucency, and bilateral involvement. In total 180 patients were studied, 57% female. Mean ± SD baseline age was 13.6 ± 7.5 years; median follow-up 5.4 (interquartile range [IQR], 11.1) years. Sixty-three percent (63%) were diagnosed with MAS. A total of 94 patients were affected bilaterally; 274 FD femurs were analyzed; 99 femurs had a varus deformity (36%). In the nested case-control analysis, risk factors were as follows: presence of MAS (p < 0.001), hyperthyroidism (p < 0.001), hypophosphatemia (p < 0.001), high percentage of femur affected (p < 0.001), and calcar destruction (p < 0.001). The linear mixed effects model included 114 femurs, identified risk factors were: growth hormone excess (β = 7.2, p = 0.013), hyperthyroidism (β = 11.3, p < 0.001), >25% of the femur affected (β = 13.2, p = 0.046), calcar destruction (β = 8.3, p = 0.004), radiolucency (β = 3.9, p = 0.009), and bilateral involvement (β = 9.8, p = 0.010). Visual inspection of the graph of the model demonstrated most progression of deformity if NSA <120 degrees with age < 15 years. In conclusion, in tertiary care centers, the prevalence of FD/MAS coxa vara deformity was 36%. Risk factors included presence of MAS, high percentage of femur affected, calcar destruction, radiolucency, NSA <120 degrees and age < 15 years. © 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).