Department of Orthopedics, Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.
Nemours Children's Hospital, DE, Wilmington, DE, USA.
Orphanet J Rare Dis. 2023 Jun 6;18(1):139. doi: 10.1186/s13023-023-02738-x.
The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondroplasia. CLARITY (The Achondroplasia Natural History Study) includes clinical data from achondroplasia patients receiving treatment at four skeletal dysplasia centers in the United States from 1957 to 2018. Data were entered and stored in a Research Electronic Data Capture (REDCap) database.
Information from one thousand three hundred and seventy-four patients with achondroplasia were included in this study. Four hundred and eight (29.7%) patients had at least one orthopedic surgery during their lifetime and 299 (21.8%) patients underwent multiple procedures. 12.7% (n = 175) of patients underwent spine surgery at a mean age at first surgery of 22.4 ± 15.3 years old. The median age was 16.7 years old (0.1-67.4). 21.2% (n = 291) of patients underwent lower extremity surgery at a mean age at first surgery of 9.9 ± 8.3 years old with a median age of 8.2 years (0.2-57.8). The most common spinal procedure was decompression (152 patients underwent 271 laminectomy procedures), while the most common lower extremity procedure was osteotomy (200 patients underwent 434 procedures). Fifty-eight (4.2%) patients had both a spine and lower extremity surgery. Specific risk factors increasing the likelihood of orthopedic surgery included: patients with hydrocephalus requiring shunt placement having higher odds of undergoing spine surgery (OR 1.97, 95% CI 1.14-3.26); patients having a cervicomedullary decompression also had higher odds of undergoing spine surgery (OR 1.85, 95% CI 1.30-2.63); and having lower extremity surgery increased the odds of spine surgery (OR 2.05, 95% CI 1.45-2.90).
Orthopedic surgery was a common occurrence in achondroplasia with 29.7% of patients undergoing at least one orthopedic procedure. Spine surgery (12.7%) was less common and occurred at a later age than lower extremity surgery (21.2%). Cervicomedullary decompression and hydrocephalus with shunt placement were associated with an increased risk for spine surgery. The results from CLARITY, the largest natural history study of achondroplasia, should aid clinicians in counseling patients and families about orthopedic surgery.
本研究旨在描述软骨发育不全患者接受骨科手术的频率和相关风险因素。CLARITY（软骨发育不全自然史研究）纳入了自 1957 年至 2018 年期间美国四家骨骼发育不良中心接受治疗的软骨发育不全患者的临床数据。数据被输入并存储在 Research Electronic Data Capture（REDCap）数据库中。
本研究共纳入了 1374 名软骨发育不全患者的信息。408 名（29.7%）患者在其一生中至少接受过一次骨科手术，299 名（21.8%）患者接受了多次手术。12.7%（n=175）的患者在平均首次手术年龄 22.4±15.3 岁时接受了脊柱手术。中位数年龄为 16.7 岁（0.1-67.4）。21.2%（n=291）的患者在平均首次手术年龄 9.9±8.3 岁时接受了下肢手术，中位数年龄为 8.2 岁（0.2-57.8）。最常见的脊柱手术是减压（152 名患者接受了 271 次椎板切除术），而最常见的下肢手术是截骨术（200 名患者接受了 434 次手术）。58 名（4.2%）患者同时接受了脊柱和下肢手术。增加骨科手术可能性的特定风险因素包括：需要放置分流管以治疗脑积水的患者，其进行脊柱手术的可能性更高（OR 1.97，95%CI 1.14-3.26）；接受颈椎脊髓减压术的患者也更有可能进行脊柱手术（OR 1.85，95%CI 1.30-2.63）；而接受下肢手术会增加脊柱手术的可能性（OR 2.05，95%CI 1.45-2.90）。
骨科手术在软骨发育不全患者中较为常见，29.7%的患者至少接受过一次骨科手术。脊柱手术（12.7%）比下肢手术（21.2%）少见，且发生年龄较晚。颈椎脊髓减压术和伴有分流管放置的脑积水与脊柱手术风险增加相关。CLARITY 是软骨发育不全最大的自然史研究，其研究结果应有助于临床医生为患者及其家属提供有关骨科手术的咨询。
