Abstract：
The natural history of skeletal complications in achondroplasia (ACH) is well-described. However, it remains unclear how the rates of non-skeletal complications, surgical procedures, healthcare needs and mortality differ between individuals with ACH and the general population. This study aimed to contextualise the extent of these outcomes by comparing event rates across the lifespan, between those with ACH and matched controls in a United Kingdom (UK) population.
This retrospective, matched cohort study used data from national UK databases: the Clinical Practice Research Database (CPRD) GOLD from primary care, the secondary care Hospital Episode Statistics (HES) databases and the Office of National Statistics mortality records. ACH cases were identified using disorder-specific Read Codes or International Classification of Diseases 10th Revision codes. For each ACH case, up to four age- and sex-matched controls (defined as those without evidence of skeletal/growth disorders) were included. Event rates per 100 person-years were calculated for a pre-defined set of complications (informed by reviews of existing ACH literature and discussion with clinical authors), healthcare visits and mortality. Rate ratios (RRs) with 95% confidence intervals (CIs) were used to compare case and control cohorts.
541 ACH cases and 2052 controls were identified for the CPRD cohort; of these, 275 cases and 1064 matched controls had linkage to HES data. Approximately twice as many non-skeletal complications were reported among individuals with ACH versus controls (RR [95% CI] 1.80 [1.59-2.03]). Among ACH cases, a U-shaped distribution of complications was observed across age groups, whereby the highest complication rates occurred at < 11 and > 60 years of age. Individuals with ACH had greater needs for medication, GP referrals to specialist care, medical imaging, surgical procedures and healthcare visits versus controls, as well as a mortality rate of almost twice as high.
Patients with ACH experience high rates of a range of both skeletal and non-skeletal complications across their lifespan. To manage these complications, individuals with ACH have significantly increased healthcare needs compared to the general population. These results underscore the need for more coordinated and multidisciplinary management of people with ACH to improve health outcomes across the lifespan.
This retrospective, matched cohort study used data from national UK databases: the Clinical Practice Research Database (CPRD) GOLD from primary care, the secondary care Hospital Episode Statistics (HES) databases and the Office of National Statistics mortality records. ACH cases were identified using disorder-specific Read Codes or International Classification of Diseases 10th Revision codes. For each ACH case, up to four age- and sex-matched controls (defined as those without evidence of skeletal/growth disorders) were included. Event rates per 100 person-years were calculated for a pre-defined set of complications (informed by reviews of existing ACH literature and discussion with clinical authors), healthcare visits and mortality. Rate ratios (RRs) with 95% confidence intervals (CIs) were used to compare case and control cohorts.
541 ACH cases and 2052 controls were identified for the CPRD cohort; of these, 275 cases and 1064 matched controls had linkage to HES data. Approximately twice as many non-skeletal complications were reported among individuals with ACH versus controls (RR [95% CI] 1.80 [1.59-2.03]). Among ACH cases, a U-shaped distribution of complications was observed across age groups, whereby the highest complication rates occurred at < 11 and > 60 years of age. Individuals with ACH had greater needs for medication, GP referrals to specialist care, medical imaging, surgical procedures and healthcare visits versus controls, as well as a mortality rate of almost twice as high.
Patients with ACH experience high rates of a range of both skeletal and non-skeletal complications across their lifespan. To manage these complications, individuals with ACH have significantly increased healthcare needs compared to the general population. These results underscore the need for more coordinated and multidisciplinary management of people with ACH to improve health outcomes across the lifespan.
摘要：
背景：软骨发育不全（ACH）的骨骼并发症的自然史已得到充分描述。然而,目前尚不清楚非骨骼并发症的发生率，外科手术,ACH患者和一般人群的医疗需求和死亡率不同.这项研究旨在通过比较整个生命周期中的事件发生率来了解这些结果的程度，在英国(UK)人群中患有ACH的人群和匹配的对照组之间。
方法：本回顾性研究，配对队列研究使用来自英国国家数据库的数据：初级保健的临床实践研究数据库(CPRD)GOLD，二级保健医院事件统计(HES)数据库和国家统计局死亡率记录.使用疾病特异性阅读代码或国际疾病分类第10次修订代码识别ACH病例。对于每个ACH案例，纳入了多达4名年龄和性别匹配的对照(定义为没有骨骼/生长障碍证据的对照).每100人年的事件发生率是针对一组预定义的并发症计算的（通过对现有ACH文献的回顾和与临床作者的讨论得出），医疗保健访问和死亡率。使用具有95％置信区间（CI）的比率（RR）来比较病例和对照组。
结果：在CPRD队列中确定了541例ACH病例和2052例对照；其中，275例病例和1064例匹配对照与HES数据有关联。与对照组相比，ACH患者报告的非骨骼并发症大约是对照组的两倍(RR[95%CI]1.80[1.59-2.03])。在ACH病例中,观察到各年龄组的并发症呈U型分布，其中最高的并发症发生率发生在<11岁和>60岁。患有ACH的人对药物的需求更大，全科医生转介给专科护理，医学成像,外科手术和医疗保健访问与控制，以及几乎两倍的死亡率。
结论：ACH患者在其寿命期内经历一系列骨骼和非骨骼并发症的高发生率。为了控制这些并发症，与一般人群相比,ACH患者的医疗保健需求显著增加.这些结果强调需要对ACH患者进行更协调和多学科的管理，以改善整个生命周期的健康结果。
方法：本回顾性研究，配对队列研究使用来自英国国家数据库的数据：初级保健的临床实践研究数据库(CPRD)GOLD，二级保健医院事件统计(HES)数据库和国家统计局死亡率记录.使用疾病特异性阅读代码或国际疾病分类第10次修订代码识别ACH病例。对于每个ACH案例，纳入了多达4名年龄和性别匹配的对照(定义为没有骨骼/生长障碍证据的对照).每100人年的事件发生率是针对一组预定义的并发症计算的（通过对现有ACH文献的回顾和与临床作者的讨论得出），医疗保健访问和死亡率。使用具有95％置信区间（CI）的比率（RR）来比较病例和对照组。
结果：在CPRD队列中确定了541例ACH病例和2052例对照；其中，275例病例和1064例匹配对照与HES数据有关联。与对照组相比，ACH患者报告的非骨骼并发症大约是对照组的两倍(RR[95%CI]1.80[1.59-2.03])。在ACH病例中,观察到各年龄组的并发症呈U型分布，其中最高的并发症发生率发生在<11岁和>60岁。患有ACH的人对药物的需求更大，全科医生转介给专科护理，医学成像,外科手术和医疗保健访问与控制，以及几乎两倍的死亡率。
结论：ACH患者在其寿命期内经历一系列骨骼和非骨骼并发症的高发生率。为了控制这些并发症，与一般人群相比,ACH患者的医疗保健需求显著增加.这些结果强调需要对ACH患者进行更协调和多学科的管理，以改善整个生命周期的健康结果。
