Vito Guarnieri1, Marco Castori2. 1. Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, Poliambulatorio "Papa Giovanni Paolo II", 2nd Floor, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Foggia, Italy. 2. Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, Poliambulatorio "Papa Giovanni Paolo II", 2nd Floor, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Foggia, Italy. m.castori@operapadrepio.it.
Abstract
PURPOSE OF REVIEW: To summarize current evidence on the links between joint hypermobility (JH) and Ehlers-Danlos syndromes (EDS), with pain and reduced bone mass; to illustrate an updated approach to JH and EDS. RECENT FINDINGS: In 2017, a novel classification for EDS and JH has been published. Increasing data demonstrate that pain is a major disability determinator in JH and EDS. Recent findings confirm a complex pathogenesis for pain in JH and EDS and suggest a potential role for joint instability, central sensitization and small fiber neuropathy. Some papers present bone mass reduction as an associated feature of JH and EDS. The association is preliminary and reflects heterogeneous mechanisms. Assessment of patients with JH/EDS is now well-structured and based on an integrated approach of clinical evaluations and molecular testing. Pain and reduced bone mass are possibly common satellite manifestations of JH/EDS and need expert consult for appropriate interpretation and management.
PURPOSE OF REVIEW: To summarize current evidence on the links between joint hypermobility (JH) and Ehlers-Danlos syndromes (EDS), with pain and reduced bone mass; to illustrate an updated approach to JH and EDS. RECENT FINDINGS: In 2017, a novel classification for EDS and JH has been published. Increasing data demonstrate that pain is a major disability determinator in JH and EDS. Recent findings confirm a complex pathogenesis for pain in JH and EDS and suggest a potential role for joint instability, central sensitization and small fiber neuropathy. Some papers present bone mass reduction as an associated feature of JH and EDS. The association is preliminary and reflects heterogeneous mechanisms. Assessment of patients with JH/EDS is now well-structured and based on an integrated approach of clinical evaluations and molecular testing. Pain and reduced bone mass are possibly common satellite manifestations of JH/EDS and need expert consult for appropriate interpretation and management.
Authors: G Di Stefano; C Celletti; R Baron; M Castori; M Di Franco; S La Cesa; C Leone; A Pepe; G Cruccu; A Truini; F Camerota Journal: Eur J Pain Date: 2016-02-26 Impact factor: 3.931
Authors: Lara Bloom; Peter Byers; Clair Francomano; Brad Tinkle; Fransiska Malfait Journal: Am J Med Genet C Semin Med Genet Date: 2017-03 Impact factor: 3.908
Authors: Marco Castori; Filippo Camerota; Claudia Celletti; Chiara Danese; Valter Santilli; Vincenzo Maria Saraceni; Paola Grammatico Journal: Am J Med Genet A Date: 2010-03 Impact factor: 2.802
Authors: Astrid J Terkelsen; Páll Karlsson; Giuseppe Lauria; Roy Freeman; Nanna B Finnerup; Troels S Jensen Journal: Lancet Neurol Date: 2017-11 Impact factor: 44.182