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An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome.
Eur J Med Genet. 2019 Jul; 62(7):103672.EJ

Abstract

Hypermobile Ehlers Danlos Syndrome (hEDS) is a multifaceted disorder that is difficult to diagnose and manage primarily due to the unknown causes. Research on hEDS continues to evolve but tangible progress will be realized when the growing body of evidence compliments clinical practice. This critical review of the literature aims to stimulate lateral thinking about the pathogenesis, diagnosis and management of hEDS. The current international classification of Ehlers Danlos Syndrome introduced stricter diagnostic criteria for hEDS, which bore a blanket category (hypermobility spectrum disorders) for conditions presenting with symptomatic joint hypermobility, but do not match the hEDS diagnostic criteria. One would argue hEDS is another all-encompassing classification for heritable connective tissue disorders and or acquired musculoskeletal conditions without a definitive molecular basis. As scientific research progresses to accommodate validated and or annulled hypotheses, the plethora of unknowns in hEDS continue to challenge healthcare outcomes and care experiences.

Authors+Show Affiliations

England Centre for Practice Development, Faculty of Health and Wellbeing, Canterbury Christ Church University, Canterbury, North Holmes Road, CT1 1QU, UK. Electronic address: anne.martin@canterbury.ac.uk.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31102747

Citation

Martin, Anne. "An Acquired or Heritable Connective Tissue Disorder? a Review of Hypermobile Ehlers Danlos Syndrome." European Journal of Medical Genetics, vol. 62, no. 7, 2019, p. 103672.
Martin A. An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome. Eur J Med Genet. 2019;62(7):103672.
Martin, A. (2019). An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome. European Journal of Medical Genetics, 62(7), 103672. https://doi.org/10.1016/j.ejmg.2019.103672
Martin A. An Acquired or Heritable Connective Tissue Disorder? a Review of Hypermobile Ehlers Danlos Syndrome. Eur J Med Genet. 2019;62(7):103672. PubMed PMID: 31102747.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome. A1 - Martin,Anne, Y1 - 2019/05/16/ PY - 2018/12/18/received PY - 2019/02/27/revised PY - 2019/05/12/accepted PY - 2019/5/19/pubmed PY - 2019/9/5/medline PY - 2019/5/19/entrez KW - Connective tissue disorder KW - Diagnosis KW - Hypermobile ehlers danlos syndrome KW - Joint hypermobility KW - Management SP - 103672 EP - 103672 JF - European journal of medical genetics JO - Eur J Med Genet VL - 62 IS - 7 N2 - Hypermobile Ehlers Danlos Syndrome (hEDS) is a multifaceted disorder that is difficult to diagnose and manage primarily due to the unknown causes. Research on hEDS continues to evolve but tangible progress will be realized when the growing body of evidence compliments clinical practice. This critical review of the literature aims to stimulate lateral thinking about the pathogenesis, diagnosis and management of hEDS. The current international classification of Ehlers Danlos Syndrome introduced stricter diagnostic criteria for hEDS, which bore a blanket category (hypermobility spectrum disorders) for conditions presenting with symptomatic joint hypermobility, but do not match the hEDS diagnostic criteria. One would argue hEDS is another all-encompassing classification for heritable connective tissue disorders and or acquired musculoskeletal conditions without a definitive molecular basis. As scientific research progresses to accommodate validated and or annulled hypotheses, the plethora of unknowns in hEDS continue to challenge healthcare outcomes and care experiences. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/31102747/An_acquired_or_heritable_connective_tissue_disorder_A_review_of_hypermobile_Ehlers_Danlos_Syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(18)30936-4 DB - PRIME DP - Unbound Medicine ER -
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