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Cardiovascular risk factors and body composition in adults with achondroplasia

Fredwall, Svein O. (author)
Sunnaas Rehabil Hosp, Norway; Univ Oslo, Norway
Linge, Jennifer (author)
Linköpings universitet,Avdelningen för samhälle och hälsa,Medicinska fakulteten,AMRA Med AB, Linkoping, Sweden
Dahlqvist Leinhard, Olof, 1978- (author)
Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Centrum för medicinsk bildvetenskap och visualisering, CMIV,AMRA Med AB, Linkoping, Sweden
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Kjonigsen, Lisa (author)
Oslo Univ Hosp, Norway
Eggesbo, Heidi Beate (author)
Oslo Univ Hosp, Norway
Weedon-Fekjaer, Harald (author)
Oslo Univ Hosp, Norway
Lidal, Ingeborg Beate (author)
Sunnaas Rehabil Hosp, Norway
Manum, Grethe (author)
Sunnaas Rehabil Hosp, Norway
Savarirayan, Ravi (author)
Murdoch Childrens Res Inst, Australia; Univ Melbourne, Australia
Tonstad, Serena (author)
Oslo Univ Hosp, Norway
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 (creator_code:org_t)
SPRINGERNATURE, 2021
2021
English.
In: Genetics in Medicine. - : SPRINGERNATURE. - 1098-3600 .- 1530-0366. ; 23, s. 732-739
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Purpose 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. Methods 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. Results Participants were well matched for BMI (33.3 versus 32.5 kg/m(2)) 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). Conclusion 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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