RESUMEN
Patients with Ehlers-Danlos Syndrome (EDS) frequently suffer from severe chronic pain. We carried out an observational cohort study to assess the effectiveness of compression garments (CGs) for reducing this pain. Patients with non-vascular EDS were given custom-made Cerecare® CGs during a visit to a specialist clinic (visit V0). They were followed up over 2 years with visits every 6 months (V1-V4). At each visit, pain was assessed for the joints treated with CGs using a visual analogue scale (VAS; 0-100 mm). Additional measures were obtained to assess neuropathic pain (painDETECT questionnaire), proprioception/balance (Berg Balance Scale), and functional independence, amongst others. Data were analyzed for 67 patients with EDS (hypermobile: 91%; classical: 6%; kyphoscoliotic: 3%). For the most painful joint, the mean VAS rating was 71.5 ± 22.8 mm at V0; this decreased to 53.5 ± 25.5 mm at V1 and 45.7 ± 29 mm at V4 (t-tests: p < 0.0001). From V0 to V4, improvements were also seen for pain at the other joints, neuropathic pain, functional independence, proprioception/balance, and the incidence of sprains and dislocations/subluxations, although not all comparisons were statistically significant (p < 0.05 level). These results indicate that CGs may effectively reduce the pain and joint instability in non-vascular EDS patients.
RESUMEN
PURPOSE: To evaluate the immediate and 4-week effects of compression garments (CG) on balance using a force platform during 8 different visual, static, and dynamic conditions in hypermobile Ehlers-Danlos Syndrome (hEDS) patients. METHODS: Thirty-six participants were randomly assigned to a group: physiotherapy alone (PT, n = 19) or physiotherapy and daily CG wearing for 4 weeks (PT + CG, n = 17). Both attended 12 physiotherapy sessions (strengthening, proprioception, and balance exercises) for 4 weeks. Primary outcome: sway velocity of the centre of pressure (COP) measured before, immediately with the CG, and at 4 weeks. Secondary outcomes: ellipse area, Romberg quotient, and pain. RESULTS: Sway velocity in dynamic conditions decreased immediately with the CG. After 4 weeks of intervention, sway velocity (95% CI 4.36-39.23, effect size 0.93) and area (95% CI 146-3274, effect size 0.45) on the laterally oscillating platform with eyes-closed improved more in the PT + CG group than the PT group. Romberg quotient on foam cushion improved more in the PT + CG than the PT group. Pain decreased in both groups after 4 weeks with no between-group difference. CONCLUSION: CG combined with physiotherapy improved dynamic balance measured with COP variables significantly more than physiotherapy alone in people with hEDS. TRIAL REGISTRATION: NCT03359135Implications for RehabilitationCompression garments immediately improve balance in people with hypermobile Ehlers-Danlos Syndrome (hEDS)Compression garments combined with regular physiotherapy improve balance in people with hEDS after 4 weeks of treatmentCompression garments could compensate for proprioceptive impairment in hEDS.
RESUMEN
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility. Vascular fragility is another characteristic of the disease rarely described. We report a severe case of kEDS-PLOD1 with several vascular complications leading to difficulties in disease management.
RESUMEN
We described a novel de novo missense variant of the gene encoding Collagen alpha-2(V) chain, associated with the classical Ehlers-Danlos syndrome (cEDS) (OMIM#130010), in a 14-year-old patient who presented with congenital and severe scoliosis, muscle hypotonia, ocular manifestations, and no atrophic scaring. This case expands the phenotypic spectrum of cEDS.
RESUMEN
COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.
