Hypermobile Ehlers-Danlos

Hypermobile Ehlers-Danlos (hEDS) is inherited by autosomal dominant and currently has no molecular basis to test for. Diagnosis of hEDS is via clinical diagnosis for patients who meet all the criteria of the simultaneous presence of criteria 1 AND 2 AND 3

Criterion 1: Generalised Joint Hypermobility (GJH) 

Positive Beighton scale

  • 6 or more in children and adolescents

  • 5 or more in pubertal men and woman to age 50

  • 4 or more in men and women over the age of 50

Where Beighton score is one below age-specific cutoffs historically meeting criteria Beighton criteria may be considered. 

and

Criterion 2: Requires two or more of the following features to meet this criterion. 

(e.g., Feature A&B, A&C, B&C, or A&B&C)

Feature A - Systemic manifestations of a more generalised connective tissue disorder (a total of 5 out of twelve must be present)

  • Unusal soft or velvety skin;

  • Mild skin hyperextensibility;

  • Unexplained striae distensae or rubae at the back, groins, thighs, breasts, and/or abdomen in adolescents, men or pre-pubertal woman without a history of significant weight gain or loss;

  • Bilateral piezogenic papules of the heel;

  • Recurrent or multiple abdominal hernia(s)

  • Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS;

  • Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous woman without a history of morbid obesity or other known predisposing medical condition;

  • Dental crowding and high or narrow palate;

  • Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Walker Sign) on both sides, (ii) positive thumb sign (Steinberg Sign) on both sides'

  • Armspan-to-height ratio of ≥1.05

  • Mitral valve prolapse (MVP) mild or greater on strict echocardiographic criteria

  • Aortic root dilation with Z-Score >+2

Feature B- Positive Family History, with one or more first-degree relative independently meeting the current hEDS diagnostic criteria

Feature C- Musculoskeletal complications (must have at least one)

  • Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months;

  • Chronic, widespread pain for 3 or more months;

  • Recurrent joint dislocations or frank joints instability, in the absence of trauma. 

and

Criterion 3: 

All the above prerequisites must be met with the absence of unusual skin fragility, exclusion of other heritable and acquired connective tissue disorders including autoimmune rheumatologic conditions, and exclusion of alternative diagnosis that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. 

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes

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