Hypermobile Ehlers Danlos Syndrome
Diagnostic Criteria
hEDS is a clinical spectrum from asymptomatic joint hypermobility, to “non syndromic” 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, or simply Central Sensitisation which again has controversies.
The controversy stems from the lack of clearly objective tests. hEDS, fibromyalgia, and central sensitisation are all diagnosed using subjective "committee criteria" or "questionnaires." Committee criteria 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, but they always stipulate that other conditions must be excluded first.
The existence of a committee diagnosis for a condition does not mean that the condition doesn't exist. It can however fuel the flame of controversy. Migraine is a good example of a mainstream committee diagnosis that has broad acceptance, and glioblastoma is a good example of a more objective diagnosis.
Many patients and clinicians find on the other hand that making a committee diagnosis is helpful in framing and providing a narrative through which to support management in a patient centered model of care. 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.
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
- ↑ 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
- ↑ 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,