Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesodden, Norway.
Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Genet Med. 2021 Apr;23(4):732-739. doi: 10.1038/s41436-020-01024-6. Epub 2020 Nov 18.
An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study investigated cardiovascular risk factors and body composition in Norwegian adults with achondroplasia.
We conducted anthropometric, clinical, and laboratory assessments in 49 participants with achondroplasia, of whom 40 completed magnetic resonance imaging (MRI) for body composition analysis. Controls consisted of 98 UK Biobank participants, matched for body mass index (BMI), sex, and age.
Participants were well matched for BMI (33.3 versus 32.5 kg/m) and sex, but achondroplasia participants were younger than controls (mean age 41.1 versus 54.3 years). Individuals with achondroplasia had lower age-adjusted mean blood pressure, total and low-density lipoprotein (LDL) cholesterol, and triglycerides compared with controls, but similar fasting glucose and HbA1c values. Age-adjusted mean visceral fat store was 1.9 versus 5.3 L (difference -2.7, 95% confidence interval [CI] -3.6 to -1.9; P < 0.001), abdominal subcutaneous fat was 6.0 versus 11.2 L (-4.7, 95% CI -5.9 to -3.4; P < 0.001), and liver fat was 2.2 versus 6.9% (-2.8, 95% CI -5.2 to -0.4; P = 0.02).
Despite a high BMI, the cardiovascular risks appeared similar or lower in achondroplasia compared with controls, indicating that other factors might contribute to the increased mortality observed in this condition.
已报道软骨发育不全患者的心血管死亡率增加。本基于人群的病例对照研究调查了挪威软骨发育不全成年患者的心血管危险因素和身体成分。
我们对 49 名软骨发育不全患者进行了人体测量、临床和实验室评估，其中 40 名患者完成了磁共振成像（MRI）用于身体成分分析。对照组由 98 名英国生物库参与者组成，匹配了体重指数（BMI）、性别和年龄。
参与者的 BMI（33.3 与 32.5kg/m）和性别匹配良好，但软骨发育不全患者比对照组年轻（平均年龄 41.1 与 54.3 岁）。与对照组相比，软骨发育不全患者的年龄调整后平均血压、总胆固醇和低密度脂蛋白胆固醇（LDL-C）以及甘油三酯较低，但空腹血糖和 HbA1c 水平相似。年龄调整后，内脏脂肪存储量为 1.9 与 5.3L（差值-2.7，95%置信区间[CI] -3.6 至 -1.9；P<0.001），腹部皮下脂肪为 6.0 与 11.2L（差值-4.7，95%CI -5.9 至 -3.4；P<0.001），肝脂肪为 2.2 与 6.9%（差值-2.8，95%CI -5.2 至 -0.4；P=0.02）。
尽管 BMI 较高，但与对照组相比，软骨发育不全患者的心血管风险似乎相似或更低，这表明其他因素可能导致这种情况下观察到的死亡率增加。
