Abstract：
Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity.
To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS.
We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature.
We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below -2.5) and 143 (54%) had osteopenia (T-score -1 to -2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified.
Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients.
To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS.
We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature.
We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below -2.5) and 143 (54%) had osteopenia (T-score -1 to -2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified.
Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients.
摘要：
背景：Prader-Willi综合征（PWS）是一种罕见的复杂遗传综合征，以精神运动发育延迟为特征，低张力,和饮食亢进.激素缺乏，如性腺机能减退，甲状腺功能减退,生长激素缺乏很常见。肌张力减退的组合，低体力活动，性腺功能减退可能导致骨量减少和骨折风险增加。此外，人们预计，由于肌张力减退和体力活动不足，脊柱侧弯的风险会增加。
目的：研究骨骼问题的患病率和危险因素（骨密度降低，骨折,和脊柱侧弯）在患有PWS的成年人中。
方法：我们回顾性收集了患者特征，病史,药物,生化测量，双能X射线吸收扫描,和脊柱X射线，并回顾了目前的文献。
结果：我们包括354名患有PWS的成年人（中位年龄31岁；43%为男性），其中51例(14%)患有骨质疏松症(T评分低于-2.5),143例(54%)患有骨质减少(T评分-1~-2.5).骨质疏松症最普遍的可改变的危险因素是性腺功能减退症，乳制品摄入不足，久坐的生活方式，和皮质类固醇的使用。男性与骨质疏松症相关(P=0.005)。生长激素治疗与骨质疏松症无关。10例（3％）存在椎骨骨折，59例（17％）存在非椎骨骨折。263例（80%）出现脊柱侧凸，但未发现可改变的危险因素。
结论：除了脊柱侧凸，骨质疏松症在成人PWS中很常见。根据文献和我们队列中发现的骨质疏松症的危险因素，我们提供实用的临床建议,以避免这些易感患者出现骨骼并发症.
目的：研究骨骼问题的患病率和危险因素（骨密度降低，骨折,和脊柱侧弯）在患有PWS的成年人中。
方法：我们回顾性收集了患者特征，病史,药物,生化测量，双能X射线吸收扫描,和脊柱X射线，并回顾了目前的文献。
结果：我们包括354名患有PWS的成年人（中位年龄31岁；43%为男性），其中51例(14%)患有骨质疏松症(T评分低于-2.5),143例(54%)患有骨质减少(T评分-1~-2.5).骨质疏松症最普遍的可改变的危险因素是性腺功能减退症，乳制品摄入不足，久坐的生活方式，和皮质类固醇的使用。男性与骨质疏松症相关(P=0.005)。生长激素治疗与骨质疏松症无关。10例（3％）存在椎骨骨折，59例（17％）存在非椎骨骨折。263例（80%）出现脊柱侧凸，但未发现可改变的危险因素。
结论：除了脊柱侧凸，骨质疏松症在成人PWS中很常见。根据文献和我们队列中发现的骨质疏松症的危险因素，我们提供实用的临床建议,以避免这些易感患者出现骨骼并发症.
