Hypermobile Ehlers Danlos Syndrome: Difference between revisions
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| '''Five Point Questionnaire for identifying hypermobility (5PQ)''' | |||
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| '''Criteria''': Two or more โyesโ answers suggest joint hypermobility. | |||
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==Unproven triad of hEDS, MCAS, and POTS== | ==Controversies== | ||
The hEDS subtype of EDS has varying levels of acceptance and awareness as a diagnostic entity from Musculoskeletal Medicine Specialists, Rheumatologists, and Immunologists in New Zealand. What some clinicians diagnose as hEDS, many rheumatologists tend to instead diagnose [[Fibromyalgia]], another controversial condition that is not commonly diagnosed in Musculoskeletal Medicine. The problem is the lack of a clearly objective test; both hEDS and fibromyalgia are diagnosed using "committee criteria." On the other hand making a diagnosis may be helpful in framing and providing a narrative through which to support management. | |||
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===Unproven triad of hEDS, MCAS, and POTS=== | |||
Kohn et al evaluated the literature behind each of these conditions, and the relationship between them<ref>Kohn A, Chang C. The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS). Clin Rev Allergy Immunol. 2020;58(3):273-297. doi:10.1007/s12016-019-08755-8</ref>. They concluded that there is no proven relationship between hypermobile Ehlers Danlos Syndrome, Mast Cell Activation Syndrome, and POTS, and no proven pathophysiological mechanism linking them.ย Most studies to date used the older criteria of hEDS which was much more inclusive and more vague, making analysis more difficult. They theorised that the reason that these conditions have been associated is because there is a large overlap of non-specific symptomatology, summarised in their Venn Diagram below. ย | Kohn et al evaluated the literature behind each of these conditions, and the relationship between them<ref>Kohn A, Chang C. The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS). Clin Rev Allergy Immunol. 2020;58(3):273-297. doi:10.1007/s12016-019-08755-8</ref>. They concluded that there is no proven relationship between hypermobile Ehlers Danlos Syndrome, Mast Cell Activation Syndrome, and POTS, and no proven pathophysiological mechanism linking them.ย Most studies to date used the older criteria of hEDS which was much more inclusive and more vague, making analysis more difficult. They theorised that the reason that these conditions have been associated is because there is a large overlap of non-specific symptomatology, summarised in their Venn Diagram below. ย | ||
Revision as of 20:49, 11 May 2021
Diagnostic Criteria
hEDS is a clinical spectrum from asymptomatic joint hypermobility, to โnon syndromicโ hypermobility, to hEDS. The latest diagnostic criteria for hEDS were published in 2017 [1]
hEDS Diagnostic Criteria Checklist.pdf
Controversies
The hEDS subtype of EDS has varying levels of acceptance and awareness as a diagnostic entity from Musculoskeletal Medicine Specialists, Rheumatologists, and Immunologists in New Zealand. What some clinicians diagnose as hEDS, many rheumatologists tend to instead diagnose Fibromyalgia, another controversial condition that is not commonly diagnosed in Musculoskeletal Medicine. The problem is the lack of a clearly objective test; both hEDS and fibromyalgia are diagnosed using "committee criteria." On the other hand making a diagnosis may be helpful in framing and providing a narrative through which to support management.
Unproven triad of hEDS, MCAS, and POTS
Kohn et al evaluated the literature behind each of these conditions, and the relationship between them[2]. They concluded that there is no proven relationship between hypermobile Ehlers Danlos Syndrome, Mast Cell Activation Syndrome, and POTS, and no proven pathophysiological mechanism linking them. Most studies to date used the older criteria of hEDS which was much more inclusive and more vague, making analysis more difficult. They theorised that the reason that these conditions have been associated is because there is a large overlap of non-specific symptomatology, summarised in their Venn Diagram below.
Differential Diagnosis
- Generalised Joint Hypermobility
- Hypermobility Spectrum Disorder or Hypermobile Ehlers Danlos Syndrome
- Ehlers Danlos Syndrome
- Marfan Syndrome
- Osteogenesis Imperfecta Type 1
- Geroderma Osteodysplasticum
- Loeys-Dietz
- Arterial Tortuosity Syndrome
- Lateral Meningocele Syndrome
- Bethlem Myopathy
- Ullrich congenital muscular dystrophy
- Acromesomelic Dysplasia
- Coffin-Lowry Syndrome
- Cohen Syndrome
- Cranioectodermal Dysplasia
- Deletion 2q37 Syndrome
- Down Syndrome
- Floating-Harbor Syndrome
- Hajdu-Cheney Syndrome
- Kabuki Syndrome
- Loeys-Dietz Syndrome
- Macrocephaly-Capillary Malformation
- Meier-Gorlin Syndrome
- Metatropic Dysplasia
- Microcephalic Primordial Dwarfing Syndrome
- Microdeletion 15q24 Syndrome
- Microdeletion 22q11.2 Syndrome
- Morquio Syndrome
- Multiple Endocrine Neoplasia Type 2B
- Peters'-Plus Syndorme
- Pitt-Hopkins Syndrome
- Pseudoachondroplasia
- SHORT Syndrome
- Stickler Syndrome
- 3-M Syndrome
- XXXY and XXXXY SDyndrome
Resources
- hEDS Diagnostic Criteria Checklist.pdf
- Media:EDS classifications 2017 - malfait2017.pdf
- Media:Kohn2019 The Relationship Between hEDS POTS and MCAS.pdf
References
- โ Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
- โ Kohn A, Chang C. The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS). Clin Rev Allergy Immunol. 2020;58(3):273-297. doi:10.1007/s12016-019-08755-8
Literature Review
- Reviews from the last 7 years: review articles, free review articles, systematic reviews, meta-analyses, NCBI Bookshelf
- Articles from all years: PubMed search, Google Scholar search.
- TRIP Database: clinical publications about evidence-based medicine.
- Other Wikis: Radiopaedia, Wikipedia Search, Wikipedia I Feel Lucky, Orthobullets,