Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type): it is a challenge

Abstract

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in $4 joints over a period $3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers-Danlos syndrome. However, within the Ehlers-Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers-Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

“…Prevalence of CP in the general pediatric population widely ranges between 10–35% in several studies depending on age, sex, and body district involved (King et al, ; Perquin et al, ). Despite some studies explored the prevalence of CP in Marfan syndrome/hypermobility syndromes, fibromyalgia, and Down syndrome samples, data on prevalence of pain in other syndromes with multisystemic involvement are lacking (Castori, Sperduti, Celletti, Camerota, & Grammatico, ; Hennequin, Morin, & Feine, ; Scheper, de Vries, Verbunt, & Engelbert, ; Velvin, Bathen, Rand‐Hendriksen, & Geirdal, ). All authors agree that the biggest issue is the lack of standardized and appropriate methods for patients with ID.…”

Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

“…Osteoarthritis, secondary to joint instability, is also a likely factor. Central sensitization, generalized hyperalgesia, chronic regional pain syndrome, and similar systemic or regional pathogenic mechanisms may contribute in later stages [Castori et al, ; Rombaut et al, ; Scheper et al, , ; Di Stefano et al, ]. See also “Pain Management in the Ehlers–Danlos Syndromes” by Chopra et al, this issue.…”

The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

“…How chronic pain and systemic deficits come into effect and interact with each other is currently unknown. The specific problems related to the GJH related syndromes as compared with other chronic pain syndromes are still challenging for most clinicians and scientists due to many issues surrounding etiology, disease classification, diagnostics, and treatment [Scheper et al, ].…”