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Hypermobile Ehlers Danlos Syndrome: Difference between revisions

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==Diagnostic Criteria==
==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 <ref>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</ref>
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 <ref>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</ref>

Revision as of 21:10, 27 June 2020

This article is a stub.

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]

Summary

Diagnostic criteria summary.PNG

Criterion 1: Generalised Joint Hypermobility

Must meet Beighton Score for age

Age Beighton Score
Prepubescent or adolescent ≥6
Pubescent up until age 50 ≥5
Over age 50 ≥4
Patients with Acquired joint limitations BS 1 point under age requirements
AND a positive 5PQ


Beighton.png

Five Point Questionnaire for identifying hypermobility (5PQ)
Criteria: Two or more “yes” answers suggest joint hypermobility.
  1. Can you now (or could you ever) place your hands flat on the floor without bending your knees?
  2. Can you now (or could you ever) bend your thumb to touch your forearm?
  3. As a child, did you amuse your friends by contorting your body into strange shapes, or could you do the splits?
  4. As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
  5. Do you consider yourself double jointed?

Criterion 2: At least 2 features must be present

Feature A: Systemic manifestations of CTD (need ≥5)'

  1. Unusually soft/velvety skin
  2. Mild skin hyperextensibility
  3. Unexplained striaedistensae/rubrae
  4. Bilateral piezogenic papules of heel
  5. Recurrent/multiple abdominal hernia
  6. Atrophic scaring in ≥2 sites
  7. Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women
  8. Dental crowding and high or narrow palate
  9. Arachnodactyly
  10. Arm span-to-height ≥1.05
  11. Mitral valve prolapse
  12. Aortic root dilatation with Z score > +2

Skin extensibility as measured by pinching and lifting the cutaneous and subcutaneous layers of the skin on the volar surface at the middle of the non-dominant forearm as described in Remvig et al, 2009. Skin extensibility of >1.5 cm is considered the upper end of normal. It is likely that the hyperextensibility of the skin in hEDS overlaps significantly with that of “normal” skin. Therefore, extensibility of more than 1.5 cm is “positive.” If extensibility >2.0 cm is present especially in combination with other cutaneous features, such as papyraceous scars, molluscoid pseudotumors and/or subcutaneous spheroids, consider other EDS types as possible alternative diagnoses (mainly cEDS and classical-like EDS)

Feature B: Family history (1 or more first-degree relatives must meet criteria)

Feature C: MSK Complications(need ≥1)

  1. MSK pain in ≥2 limbs, recurring daily for ≥3 months
  2. Chronic widespread pain for ≥3 months
  3. Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b)
    • ≥3 atraumatic dislocations in same joint or ≥2 more atraumatic dislocations in two difference joints occurring at different times
    • Medical confirmation of joint instability at two or more sites not related to trauma

Criterion 3: All three prerequisites must be met

  1. Absence of unusual skin fragility.
  2. Exclusion of other heritable and acquired connective tissue disorders. In patients with an acquired onnective tissue disorder, additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 cannot be counted in this situation.
  3. Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity

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. Triad heds pots mcas.PNG

Article Downloads

File:EDS classifications 2017 - malfait2017.pdf File:Kohn2019 The Relationship Between hEDS POTS and MCAS.pdf

References

  1. ↑ 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
  2. ↑ 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
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