Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.
Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.
J Clin Endocrinol Metab. 2022 Dec 17;108(1):59-84. doi: 10.1210/clinem/dgac556.
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.
普拉德-威利综合征（PWS）是一种罕见的复杂遗传综合征，其特征为精神运动发育迟缓、肌张力低下和食欲过盛。促性腺激素低下、甲状腺功能减退和生长激素缺乏等激素缺乏症较为常见。肌张力低下、低身体活动和促性腺激素低下相结合可能会导致骨量减少和骨折风险增加。此外，由于肌张力低下和低身体活动，人们预计会增加脊柱侧凸的风险。
研究成人 PWS 骨骼问题（骨密度降低、骨折和脊柱侧凸）的患病率和危险因素。
我们回顾性地收集了患者特征、病史、用药、生化测量、双能 X 射线吸收法扫描和脊柱 X 射线，并回顾了当前的文献。
我们纳入了 354 名成人 PWS 患者（中位数年龄 31 岁；43%为男性），其中 51 名（14%）患有骨质疏松症（T 评分低于-2.5），143 名（54%）患有骨量减少症（T 评分-1 至-2.5）。骨质疏松症最常见的可改变危险因素为促性腺激素低下、奶制品摄入不足、久坐不动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 =.005）。生长激素治疗与骨质疏松症无关。10 名（3%）患者存在椎体骨折史，59 名（17%）患者存在非椎体骨折史。263 名（80%）患者存在脊柱侧凸，但未确定可改变的危险因素。
除了脊柱侧凸外，骨质疏松症在成人 PWS 中也很常见。根据文献和我们队列中发现的骨质疏松症危险因素，我们为这些脆弱患者提供了避免骨骼并发症的实用临床建议。
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