Cardiovascular risk factors and body composition in adults with achondroplasia

Fredwall, Svein O.; Linge, Jennifer; Leinhard, Olof Dahlqvist; Kjønigsen, Lisa Jannicke; Eggesbø, Heidi B.; Weedon‐Fekjær, Harald; Lidal, Ingeborg Beate; Månum, Grethe; Savarirayan, Ravi; Tonstad, Serena

doi:10.1038/s41436-020-01024-6

Cited by 17 publications

(13 citation statements)

References 40 publications

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“…The present study indicated that an elevated sBP was the most common abnormality among cardiometabolic risk factors (41.7% for sBP in males, 35.3% for sBP in females) (Tables 2, 3). A recent study from Norway showed that the prevalence of hypertension in adults with ACH was 52% in males and 14% in females [35]. Another study from the U.S. showed that the prevalence of hypertension in adults with ACH was 55.7% in males and 35.2% in females [36].…”

Section: Endocrine Journal Advance Publicationmentioning

confidence: 99%

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

et al. 2023

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Achondroplasia is a rare skeletal dysplasia characterized by rhizomelic short stature, whose prevalence is about 1 per 25,000 births. For some patients with achondroplasia, excess body weight is one of the major concerns due to an impaired linear growth. Epidemiological studies revealed a premature onset of cardiovascular or cerebrovascular events in achondroplasia. An association between obesity and cardiometabolic risk factors related to cardiovascular events remains unknown in patients with achondroplasia/hypochondroplasia. This cross-sectional study investigated anthropometric measurements, body compositions and cardiometabolic risk factors in pediatric patients with achondroplasia/ hypochondroplasia. Thirty-two patients with achondroplasia and ten with hypochondroplasia aged between 1.9 and 18.7 years were enrolled in this study. Half of the participants presented at least one cardiometabolic abnormality. Elevated systolic blood pressure was the most common abnormality. None of the participants developed metabolic syndrome or type 2 diabetes mellitus. Body mass index-standard deviation score and hip/height ratio were strongly correlated with percent body fat assessed by dual energy X-ray absorptiometry although no significant association was found between anthropometric measurements or body fat mass and any cardiometabolic risk factors. No significant difference in body fat mass, as well as body mass index-standard deviation score and hip/height, was found between cardiometabolically normal group and cardiometabolically abnormal groups. These results suggest that not only weight gain and hip/height changes should be monitored but also individual cardiometabolic risk factors should be evaluated to avoid cardiometabolic events in the healthcare management of pediatric patients with achondroplasia/hypochondroplasia.

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Section: Endocrine Journal Advance Publicationmentioning

confidence: 99%

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

et al. 2023

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“…An increasing number of studies have emerged in recent years describing potential medical complications and impact on psychosocial health in adults. Among the most severe medical complications in adulthood are symptomatic spinal stenosis, obstructive sleep apnoea, hearing loss, hypertension, and obesity [13][14][15][16][17][18][19]. Reduced physical functioning, impaired ability to perform activities of daily living, reduced work participation, chronic pain, depression, anxiety, and low self-esteem are other challenges commonly reported in the adult achondroplasia population [14,[20][21][22][23].…”

Section: Open Accessmentioning

confidence: 99%

“…16 KU Leuven, Department of Human Genetics and Centre of Human Genetics, UZ Leuven, Leuven, Belgium. 17 Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar E Universitário de Coimbra, Coimbra, Portugal. 18 Faculty of Medicine, University Clinic of Genetics, Universidade de Coimbra, Coimbra, Portugal.…”

Section: Abbreviationsmentioning

confidence: 99%

Optimising care and follow-up of adults with achondroplasia

Fredwall

Allum

AlSayed

et al. 2022

Orphanet J Rare Dis

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Background Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and little is known about the care they receive or how they access it. The European Achondroplasia Forum undertook two exploratory surveys, one for healthcare professionals (HCPs) and one for patient advocacy group (PAG) representatives, to gain an understanding of current practices of the transition process of individuals with achondroplasia from paediatric to adult services and how adults perceive their care. Results Most HCP respondents followed up more children than adults, and 8/15 responded that individuals did not transition to an adult multidisciplinary team (MDT) after paediatric care. Of 10 PAG respondents, none considered the experience of transition to adult services as good or very good and 50% considered it to be poor or very poor. A total of 64% (7/11) described the coordination of transition to adult services as “Not satisfactory” or “Poor”. HCPs and PAG representatives largely agreed on the core specialists involved in adult care (orthopaedic surgeons, physiotherapists, rehabilitation specialists, rheumatologists, clinical geneticists). However, there was a discrepancy in the understanding of healthcare needs outside of this, with PAG representatives selecting neurosurgeons and genetic counsellors, while HCPs selected pulmonologists and obstetricians/gynaecologists. There was agreement between HCP and PAG respondents on the key barriers to effective care of adults with achondroplasia, with lack of an adult MDT, lack of interest from individuals in accessing care, and less experience in adult than paediatric MDTs ranking highly. Conclusions This study indicates that the care and follow up of adults with achondroplasia is challenging. Individuals are often lost to, or decline, follow up as they leave paediatric care, and it is largely unknown how, where, and why adults with achondroplasia access care later in life. Lifelong, multidisciplinary specialist care led by an identified physician should be accessible to all individuals with achondroplasia. It is important to ensure barriers to optimal care are addressed to enable access to appropriate care for all individuals with achondroplasia.

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“…Magnetic resonance imaging (MRI) is currently regarded as the reference standard for body composition analyses, and enables an accurate and quantitative assessment of muscle fat content and fat-free muscle volumes [ 20 – 25 ]. In a recent MRI-based study on body composition in achondroplasia, we found increased muscle fat infiltration (MFI) and reduced fat-free thigh muscle volumes in adult participants with achondroplasia compared to matched average stature controls [ 26 ]. Sims et al have reported similar findings in 10 young adult men with achondroplasia [ 27 ].…”

Section: Introductionmentioning

confidence: 99%

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

Fredwall

Linge

Vries

et al. 2023

Orphanet J Rare Dis

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Background Symptomatic spinal stenosis is a prevalent complication in adults with achondroplasia. Increased muscle fat infiltration (MFI) and reduced thigh muscle volumes have also been reported, but the pathophysiology is poorly understood. We explored whether the increased MFI and reduced thigh muscle volumes were associated with the presence of symptomatic spinal stenosis and physical functioning. Methods MFI and thigh muscle volumes were assessed by MRI in 40 adults with achondroplasia, and compared to 80 average-statured controls, matched for BMI, gender, and age. In achondroplasia participants, the six-minute walk-test (6MWT), the 30-s sit-to-stand test (30sSTS), and a questionnaire (the IPAQ) assessed physical functioning. Results Symptomatic spinal stenosis was present in 25 of the participants (the stenosis group), while 15 did not have stenosis (the non-stenosis group). In the stenosis group, 84% (21/25) had undergone at least one spinal decompression surgery. The stenosis group had significantly higher MFI than the non-stenosis group, with an age-, gender and BMI-adjusted difference in total MFI of 3.3 percentage points (pp) (95% confidence interval [CI] 0.04 to 6.3 pp; p = 0.03). Compared to matched controls, the mean age-adjusted difference was 3.3 pp (95% CI 1.7 to 4.9 pp; p < 0.01). The non-stenosis group had MFI similar to controls (age-adjusted difference − 0.9 pp, 95% CI − 3.4 to 1.8 pp; p = 0.51). MFI was strongly correlated with the 6MWT (r = − 0.81, − 0.83, and − 0.86; all p-values < 0.01), and moderately correlated with the 30sSTS (r = − 0.56, − 0.57, and − 0.59; all p-values < 0.01). There were no significant differences in muscle volumes or physical activity level between the stenosis group and the non-stenosis group. Conclusion Increased MFI in the thigh muscles was associated with the presence of symptomatic spinal stenosis, reduced functional walking capacity, and reduced lower limb muscle strength. The causality between spinal stenosis, accumulation of thigh MFI, and surgical outcomes need further study. We have demonstrated that MRI might serve as an objective muscle biomarker in future achondroplasia studies, in addition to functional outcome measures. The method could potentially aid in optimizing the timing of spinal decompression surgery and in planning of post-surgery rehabilitation.

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Cardiovascular risk factors and body composition in adults with achondroplasia

Cited by 17 publications

References 40 publications

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia

Optimising care and follow-up of adults with achondroplasia

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

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