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

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):97-106. doi: 10.1002/ajmg.c.31430.

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.

Keywords: Ehlers-Danlos syndrome; anxiety; joint hypermobility; psychopathology; somatotype.

Publication types

  • Review

MeSH terms

  • Anxiety / genetics
  • Anxiety / physiopathology
  • Attention Deficit Disorder with Hyperactivity / genetics
  • Attention Deficit Disorder with Hyperactivity / physiopathology
  • Connective Tissue / physiopathology*
  • Depression / genetics
  • Depression / physiopathology
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / physiopathology*
  • Ehlers-Danlos Syndrome / psychology
  • Humans
  • Joint Instability / congenital*
  • Joint Instability / genetics
  • Joint Instability / physiopathology
  • Joint Instability / psychology
  • Quality of Life
  • Stress, Psychological*
  • Surveys and Questionnaires

Supplementary concepts

  • Ehlers-Danlos syndrome type 3
  • Joint laxity, familial