Hypermobile Ehlers Danlos Syndrome: Difference between revisions
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Revision as of 20:32, 3 March 2022
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 by various relevant specialists in New Zealand. What some clinicians diagnose as hEDS, some clinicians may instead diagnose Fibromyalgia, another controversial condition that is not commonly diagnosed in Musculoskeletal Medicine, benign joint hypermobility syndrome plus fibromyalgia, or simply Central Sensitisation which again has controversies.
The evidence for applying any one or more of the above diagnoses is not robust. Some of the controversy stems from the lack of clearly objective tests. hEDS, fibromyalgia, Benign Joint Hypermobility Syndrome, and central sensitisation are all diagnosed using subjective "committee criteria" or "questionnaires." Committee diagnoses are when a group of experts come together to publish a list of symptoms and signs, and that if you fulfill those symptoms you have the disorder. There is always a but; committee diagnoses always stipulate that other conditions must be excluded first. Therefore it is not logically possible to choose between one committee diagnosis and the other (e.g. hEDS and fibromyalgia) when the patient fulfills the criteria for both conditions for the same symptoms. In the absence of widely accepted objective test and the removal of the "exclude other conditions" stipulation, who is to say that hEDS trumps fibromyalgia, or that fibryomyalgia trumps hEDS? Furthermore how does one accurately differentiate between primary chronic widespread pain versus pain with joint laxity?
The existence of a committee diagnosis for a condition does not in itself mean that the condition doesn't exist. Migraine, or the entire field of psychiatric diagnoses are good examples of mainstream committee diagnoses that have broad acceptance. Glioblastoma and myocardial infarction are good examples of a more objective diagnoses. The subjective nature of diagnosis can lead to poor inter-observer reliability and can fuel the flame of controversy.
There is some conflict between Benign Joint Hypermobility Syndrome (BJHS) and hypermobile Ehlers Danlos Syndrome. The former is diagnosed using the 1998 Brighton criteria and has come from the Rheumatology literature, which is probably why it is favoured by some Rheumatologists. Hypermobile Ehlers Danlos Syndrome is diagnosed using the 2017 diagnostic criteria and comes from the Genetics and Paediatrics literature. Some authors and clinicians believe that these two conditions are in fact the same thing.
Patients in whom this or related diagnoses are being considered are clearly suffering and have very real symptoms. Clinicians may of course make such diagnoses, and indeed they do so regularly. Making a committee diagnosis can be helpful in framing and providing a narrative through which to support management in a patient centered model of care. Medical discoveries are all made through trying new things, and as long as the patient is fully informed then the clinician and patient may wish to explore hEDS as a framework.
However at the extreme it can lead to polypharmacy, perpetuate the cycle of hope and despair, and the patient may experience resentment from some health care providers who do not "believe" in the disorder. One should always keep in mind the limitations of the diagnostic criteria and treatment evidence, the socio-psychological factors, the potential benefits and harms of making the diagnosis, and the context of the broader healthcare system.
Triad of hEDS, MCAS, and POTS
Some patients with hEDS may also be diagnosed with mast cell activation syndrome (MCAS) and postural orthostatic tachycardia syndrome (POTS). Kohn et al evaluated the literature behind each of these three 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. The main limitation of their review was that most of the 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. Please note that MCAS as a diagnostic entity is controversial and only minority support in New Zealand.[3]
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
- Dr Matthew Preston | Ehlers-Danlos Syndromes (matpre.nz)
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
- โ Valent, Peter et al. โMast cell activation syndrome: Importance of consensus criteria and call for research.โ The Journal of allergy and clinical immunology vol. 142,3 (2018): 1008-1010. doi:10.1016/j.jaci.2018.06.004
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,