Incidence and severity of pain in Stickler and Ehlers-Danlos syndromes

Abstract

Although chronic pain is increasingly recognized as a complication of hereditary connective tissue disorders, the incidence and severity of symptoms is poorly characterized. We systematically assessed pain symptoms in 25 patients with Ehlers-Danlos syndrome (EDS) and 21 patients with Stickler syndrome (hereditary arthroophthalmopathy) seen at the National Institutes of Health. Eighteen of 25 EDS patients (72%) and 16 of 21 Stickler syndrome patients (76%) reported mean worst pain ratings of 7.3±1.5 and 5.7±2.2 respectively (0-10 scale, p=0.017 comparing EDS and Stickler syndrome). In the 7 activity indices measured by the Wisconsin Brief Pain Inventory, patients with EDS and Stickler syndrome reported mean interference with activities due to pain of 5.5±2.6 and 3.6±2.0 respectively (p=0.024). EDS patients with pain were significantly older than those without (mean 37.0±15.0 vs 18.1±13.1, p=0.008), but no significant correlation was observed between pain severity and age. An age difference was not seen in Stickler syndrome patients with and without pain (36.6±16.1 vs. 29.0±18.8, p=0.44), and in those with pain there was no correlation of severity with age. These results support the hypothesis that musculoskeletal pain is a common manifestation of both Stickler syndrome and Ehlers-Danlos syndrome and significantly affects quality of life in both disorders.