Background/Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) is a hereditary connective tissue disease characterized by joint hypermobility, chronic musculoskeletal pain, and systemic manifestations, primarily caused by defects in collagen synthesis or processing [1]. The microvascular morphology and functional status have not been evaluated in hEDS, as well as dermal thickness (DT) has been little investigated.
The aim of this study was to examine the nailfold microvascular morphological status, assess peripheral blood perfusion (PBP) and measure dermal thickness (DT) in patients with hEDS in comparison with sex and age-matched healthy controls (CNT).

Methods: Twelve patients diagnosed with hEDS (mean age 40±15, 75% females), classified according to the 2017 International Classification Criteria of EDS [2], were included in the study. Twelve age- and sex-matched CNT were also recruited. The Beighton score was calculated for both hEDS patients and CNT, to assess joint hypermobility. The main parameters derived from nailfold videocapillaroscopy (NVC), including dilated capillaries, giant capillaries, microhemorrhages, abnormal capillary shapes, and capillary count, were analysed and compared between the two groups to assess morphological features [3]. Furthermore, the microvascular functional status was evaluated using laser speckle contrast analysis (LASCA), measuring peripheral blood perfusion (PBP) in various regions of interest of the hand. DT was assessed by cross-sectional B-mode scans acquired using a high-frequency 22 MHz ultrasound probe, analysing seventeen different body areas, such as the upper arms, lower arms, trunk, and forehead.

Results: Microhemorrhages were found more prevalent in hEDS patients (25% vs 0%, p = 0.09), the capillary number per linear millimetre at the nailfold was slightly higher in hEDS patients than in CNT, as well as the NVC score for abnormal shaped capillaries was slightly lower (less abnormal shaped capillaries) in hEDS patients than in CNT. PBP was similar between hEDS patients and CNT. The DT resulted generally lower in hEDS patients than controls with significant values limited to feet and thorax (p=0.04). A statistically significant positive correlation was observed between the Beighton score and the score for microhemorrhages (r=0.4, p=0.05), as well as between the Beighton score and DT (r≥0.5, p≤0.02) at the level of feet and thorax.

Conclusion: Our study demonstrates that hEDS patients exhibit a morphologically suitable capillary morphology and normal microvascular function during resting conditions. However, there is a increased microvascular fragility in these patients. Additionally, we observed that dermal thickness appears thinner in hEDS patients compared to controls across most skin areas, with significant differences noted in the feet and thorax regions.

References: [1] Malfait F et al.Nat Rev Dis Primers. 2020. [2] Malfait F et al. Am J Med Genet C Semin Med Genet 2017. [3] Smith et al. Autoimmun Rev 2020.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/microvascular-and-cutaneous-assessment-in-adult-patients-with-hypermobile-ehlers-danlos-syndrome/