Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised

Abstract

Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers-Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome - JHS/EDS-HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS-HT) and anxiety-related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi-systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS-HT. Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive-compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind-body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS-HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS-HT in clinical practice.

Gastrointestinal disorders in joint hypermobility syndrome/Ehlers‐Danlos syndrome hypermobility type: A review for the gastroenterologist

“…Since the late 80s, anxiety disorder has been described to appear more commonly in individuals with gJHM . More recently, these associations have also been found in patients with JHS/EDS‐HT, as extensively reviewed by Sinibaldi et al . Furthermore, panic disorder, agoraphobia, simple phobia, and dysthymic disorder or major depression were all found to have a strong association with JHS/EDS‐HT .…”

A framework for the classification of joint hypermobility and related conditions

“…The literature is full of case‐control studies showing a significant association between GJH (usually assessed by the Beighton score) and specific extra‐articular disorders. To date, the strongest associations are with anxiety disorders [Sinibaldi et al, ], orthostatic tachycardia [Mathias et al, ], a variety of functional gastrointestinal disorders [Zarate et al, ], and pelvic and bladder dysfunction [de Kort et al, ; Veit‐Rubin et al, ]. These associations are often real (i.e., easily confirmed by clinical practice) and clinically relevant as these additional manifestations may be commonly encountered in conditions with JH, in particular hEDS, and might impact seriously on the quality of life and management of affected individuals.…”

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

“…Psychological dysfunction and emotional problems, including depression, anxiety, affective disorder, low self‐confidence, negative thinking, hopelessness, and desperation, are also common among those with EDS [Hagberg et al, ; Castori et al, ; Baeza‐Velasco et al, ; Branson et al, ; Rombaut et al, ; Berglund et al, ; Sinibaldi et al, ; Hershenfeld et al, ]. These problems may exacerbate the pain experience, as well as other organ system manifestations (especially gastrointestinal and autonomic).…”