Phenotypic manifestations of connective tissue dysplasia in individuals with joint hypermobility

Abstract

Introduction. Joint hypermobility is a common polyetiological condition that can be accompanied by pain in the joints and lead to the early onset of osteoarthritis. The study of the comorbidity of JH and somatic pathology, in connective tissue dysplasia, is fragmentary and relevant for optimizing the classification and criteria for early diagnosis of this condition. Aim. Analysis of the frequency of phenotypic signs of uCTD in individuals with JH.Materials and methods. A cross-sectional study of 35 men (21.77 ± 0.60 years) and 226 women (21.42 ± 0.18 years) was carried out. 2 groups were formed – with the presence of HMS (n = 156) and the control group (n = 105). JH was determined according to the Beighton scale, phenotypic signs of uCTD – according to the modified table by T. Kadurina.Results. Statistically significant differences were found in the frequency of occurrence of phenotypic signs of CTD in individuals with hypermobility – a decrease in BMI < 18 kg/m2 (p = 0.0001), skin hyperelasticity (p = 0.0001), ptosis of internal organs (p = 0.038), dolichostenomyelia (p = 0.010), hyperkyphosis/hyperlordosis (p = 0.003), joint crunch (p = 0.009), GERD (p = 0.021) and arterial hypotension (p = 0.0001). Mild myopia was more common in the control group (p = 0.020), and severe myopia was more common in the JH group (p = 0.003). Keloid scars were more common in the group with severe JH (p = 0.021).Conclusions. In patients with joint hypermobility, phenotypic manifestations of connective tissue dysplasia were revealed, most often involving the musculoskeletal system (dolichostenomelia, crunching in the joints, curvature of the spine) and skin (hyperelasticity, keloid scars).

Peak Bone Mass Formation: Modern View of the Problem

“…Data regarding the association of PBM with genes and polymorphic variants in humans are incomplete [97,98]. Wei-jia Yu and colleagues (2020) reported associations between polymorphic variants of the gene LGR4 (Leucine Rich Repeat Containing G Protein-Coupled Receptor 4) and bone metabolism.…”