Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS)

 

Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS)

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CRITERION 1a – Generalized Joint Hypermobility

Can you bend your little finger up at 90° to the back of your hand?

Can you bend your elbow backwards?

Can you bend your thumb back on the front of your forearm?

Can you bend your knee backwards?

Can you put your hands flat on the floor with your knees straight?

CRITERION 1b – Generalized Joint Hypermobility

Can you now (or could you ever) place your hands fat on the foor without bending your knees?

Can you now (or could you ever) place your hands fat on the floor without bending your knees?

As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?

As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?

Do you consider yourself “double jointed”?

Criterion 2 – Feature A: Do you have…

Unusually soft or velvety skin?

Mild skin hyperextensibility?

Unexplained stretch marks at the back, groins, thighs, breasts and/or abdomen in adolescents, men or pre-pubertal women without a history of signifcant gain or loss of body fat or weight?

Bilateral soft, skin-coloured papules of the heel?

Recurrent or multiple abdominal hernia(s)?

Atrophic scarring (depressed and well-defined lesions) involving at least two sites and without the formation of truly papyraceous (cigarette-paper) and/or hemosideric (those that have pigment deposits containing iron that causes them to be darker than normal scars) scars as seen in classical EDS?

Pelvic foor, rectal, and/or uterine prolapse in children, men or nulliparous (have never been pregnant) women without a history of morbid obesity or other known predisposing medical condition?

Dental crowding and high or narrow palate?

Arachnodactyly, as defned in one or more of the following: (i) positive wrist sign (Walker sign) (Grip your wrist with the opposite hand. A positive sign is when the thumb and fifth finger of the hand overlap with each other) on both sides, (ii) positive thumb sign (Steinberg sign) (Fold your thumb into the closed fist. This test is positive if the thumb tip extends from palm of hand) on both sides?

Arm span-to-height ratio ≥1.05?

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

Criterion 2 – Feature B: Do you have…

Positive family history; one or more frst-degree relatives independently meeting the current criteria for hEDS?

Criterion 2 – Feature C: Do you have…

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

Chronic, widespread pain for ≥3 months?

Recurrent joint dislocations or frank joint instability, in the absence of trauma?

Criterion 3. Do you have…

Absence of unusual skin fragility, which should prompt consideration of other types of EDS?

Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired CTD (e.g. Lupus, Rheumatoid Arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted toward a diagnosis of hEDS in this situation?

Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorders (e.g. Bethlem myopathy), other hereditary disorders of the connective tissue (e.g. other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias (e.g. osteogenesis imperfecta). Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated?

DISCLAIMER:

The following form was retrieved from: The International Consortium on Ehlers-Danlos Syndromes and Related Disorders. Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS). https://ehlers-danlos.com/wp-content/uploads/hEDS-Dx-Criteria-checklist-1.pdf

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