Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment.
- We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS).
- Sensory action potential amplitude and conduction velocity of sural nerve was recorded.
- Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex- and age-adjusted normative reference values.
Our cohort included
- 20 adults with joint hypermobility syndrome/hypermobility EDS,
- 3 patients with vascular EDS, and
- 1 patient with classic EDS.
All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire.
Pain intensity was
- moderate (NRS ≥4 and <7) in 8 patients and
- severe (NRS ≥7) in 11 patients.
Sural nerve conduction study was normal in all patients.
All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN),
regardless of the EDS type.
SFN is a common feature in adults with EDS.
Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS.