Endocrinology and Metabolism Division, IRCCS Policlinico San Donato, Milan, Italy.
Laboratory of Pediatric Endocrinology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Bone. 2020 Jun;135:115333. doi: 10.1016/j.bone.2020.115333. Epub 2020 Mar 25.
Marfan syndrome (MFS) is an autosomal genetic disorder of connective tissue, due to alterated fibrillin-1. The aim of our study was to verify the rate of fractures in children with MFS in correlation to bone mineral density and compare the prevalence to the general population in the same latitude. We enrolled 80 patients (37 girls and 43 boys) with the diagnosis of Marfan syndrome, median age 10 y (3 to 17 years). Fracture occurrence was inferred from medical records of patients with MFS. Bone mineral density (BMD) was measured at lumbar spine, femoral neck and total femur by dual-energy x-ray absorptiometry. BMD values were expressed as z-scores, and adjusted for height using height-for-age z-scores. Bone turnover markers and vitamin D were measured. We assessed incidence of fracture in general pediatric population of our geographic area (45°N latitude). A total of 24 fractures were recorded in 21 patients (15 boys and 6 girls), involving both short and long bones, due to mild or moderate trauma. An incidence estimate has been calculated for each year, and an average incidence of 29.2/1000 MFS patients was obtained, markedly higher (P=0.034) than the incidence of fracture calculated in the same geographical area in pediatric patients (15.8/1000). We did not detect differences in anthropometric measurements, BMD values and biochemical indices between patients who fractured and patients who did not. Similarly, no differences were found between patients on losartan therapy and patients not in treatment for the same variables. In conclusion, the incidence of fractures was higher in patients with MFS compared to general population of the same age and latitude. The management of MFS must account bone status health and start strategies of fracture prevention.
马凡综合征（MFS）是一种常染色体遗传的结缔组织疾病，由纤维连接蛋白 1 改变引起。我们研究的目的是验证 MFS 患儿骨折的发生率与骨密度的相关性，并将其与同纬度的一般人群进行比较。我们纳入了 80 名 MFS 患儿（37 名女孩和 43 名男孩），中位年龄为 10 岁（3-17 岁）。通过 MFS 患儿的病历推断骨折发生情况。通过双能 X 线吸收法测量腰椎、股骨颈和全股骨的骨密度（BMD）。BMD 值用 z 评分表示，并根据身高使用身高年龄 z 评分进行校正。测量骨转换标志物和维生素 D。我们评估了我们地理区域（45°N 纬度）一般儿科人群的骨折发生率。21 名患儿（15 名男孩和 6 名女孩）共记录了 24 处骨折，涉及短骨和长骨，均因轻度或中度创伤所致。我们计算了每年的发病率，得出 MFS 患儿的平均发病率为 29.2/1000，明显高于（P=0.034）在同一地理区域儿科患者中计算出的骨折发病率（15.8/1000）。我们没有发现骨折患儿与未骨折患儿之间在人体测量学测量、BMD 值和生化指标方面存在差异。同样，在接受氯沙坦治疗的患者和未接受治疗的患者之间，这些变量也没有差异。总之，与同年龄和同纬度的一般人群相比，MFS 患者的骨折发生率更高。MFS 的管理必须考虑骨骼健康状况，并开始预防骨折的策略。
