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Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet A 2013; 161A(12):2989-3004AJ

Abstract

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping connective tissue disorders characterized by chronic/recurrent pain, joint instability complications, and minor skin changes. Fatigue and headache are also common, although are not yet considered diagnostic criteria. JHS/EDS-HT is a unexpectedly common condition that remains underdiagnosed by most clinicians and pain specialists. This results in interventions limited to symptomatic and non-satisfactory treatments, lacking reasonable pathophysiologic rationale. In this manuscript the fragmented knowledge on pain, fatigue, and headache in JHS/EDS is presented with review of the available published information and a description of the clinical course by symptoms, on the basis of authors' experience. Pathogenic mechanisms are suggested through comparisons with other functional somatic syndromes (e.g., chronic fatigue syndrome, fibromyalgia, and functional gastrointestinal disorders). The re-writing of the natural history of JHS/EDS-HT is aimed to raise awareness among clinical geneticists and specialists treating chronic pain conditions about pain and other complications of JHS/EDS-HT. Symptoms' clustering by disease stage is proposed to investigate both the molecular causes and the symptoms management of JHS/EDS-HT in future studies.

Authors+Show Affiliations

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

24254847

Citation

Castori, Marco, et al. "Re-writing the Natural History of Pain and Related Symptoms in the Joint Hypermobility syndrome/Ehlers-Danlos Syndrome, Hypermobility Type." American Journal of Medical Genetics. Part A, vol. 161A, no. 12, 2013, pp. 2989-3004.
Castori M, Morlino S, Celletti C, et al. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet A. 2013;161A(12):2989-3004.
Castori, M., Morlino, S., Celletti, C., Ghibellini, G., Bruschini, M., Grammatico, P., ... Camerota, F. (2013). Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. American Journal of Medical Genetics. Part A, 161A(12), pp. 2989-3004. doi:10.1002/ajmg.a.36315.
Castori M, et al. Re-writing the Natural History of Pain and Related Symptoms in the Joint Hypermobility syndrome/Ehlers-Danlos Syndrome, Hypermobility Type. Am J Med Genet A. 2013;161A(12):2989-3004. PubMed PMID: 24254847.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. AU - Castori,Marco, AU - Morlino,Silvia, AU - Celletti,Claudia, AU - Ghibellini,Giulia, AU - Bruschini,Michela, AU - Grammatico,Paola, AU - Blundo,Carlo, AU - Camerota,Filippo, Y1 - 2013/11/06/ PY - 2013/03/11/received PY - 2013/09/29/accepted PY - 2013/11/21/entrez PY - 2013/11/21/pubmed PY - 2014/7/6/medline KW - EDS KW - JHS KW - disability KW - fatigue KW - headache KW - hypermobility KW - pain KW - pathogenesis KW - prevention KW - treatment SP - 2989 EP - 3004 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 161A IS - 12 N2 - Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping connective tissue disorders characterized by chronic/recurrent pain, joint instability complications, and minor skin changes. Fatigue and headache are also common, although are not yet considered diagnostic criteria. JHS/EDS-HT is a unexpectedly common condition that remains underdiagnosed by most clinicians and pain specialists. This results in interventions limited to symptomatic and non-satisfactory treatments, lacking reasonable pathophysiologic rationale. In this manuscript the fragmented knowledge on pain, fatigue, and headache in JHS/EDS is presented with review of the available published information and a description of the clinical course by symptoms, on the basis of authors' experience. Pathogenic mechanisms are suggested through comparisons with other functional somatic syndromes (e.g., chronic fatigue syndrome, fibromyalgia, and functional gastrointestinal disorders). The re-writing of the natural history of JHS/EDS-HT is aimed to raise awareness among clinical geneticists and specialists treating chronic pain conditions about pain and other complications of JHS/EDS-HT. Symptoms' clustering by disease stage is proposed to investigate both the molecular causes and the symptoms management of JHS/EDS-HT in future studies. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/24254847/Re_writing_the_natural_history_of_pain_and_related_symptoms_in_the_joint_hypermobility_syndrome/Ehlers_Danlos_syndrome_hypermobility_type_ L2 - https://doi.org/10.1002/ajmg.a.36315 DB - PRIME DP - Unbound Medicine ER -