| Criteria | Score |
| Criterion 1: Generalized joint hypermobility (GJH): |
| Beighton score: ≥6 for pre-pubertal children and adolescents, ≥5 for pubertal and post-pubertal men and women up to the age of 50, and ≥4 for men and women >50 years of age for hypermobile Ehlers-Danlos syndrome (hEDS). If the score is 4 or less and the person is positive for 2 or more of the 5-part questionnaire, add 1 point to the Beighton score. |
| Criterion 2: 2 or more of A, B, and C |
| Feature A: Manifestations of a connective tissue disorder: |
Fascia: - Unusually soft or velvety skin
- Mild skin hyperextensibility
- Unexplained striae (ie, excluding striae distensae or rubrae)
- Bilateral piezogenic papules of the heel
- Recurrent or multiple abdominal hernia(s) (2 points)
- Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosiderotic scars as seen in classical EDS
- Pelvic floor and/or rectal prolapse in children, men, or nulliparous women without predisposing medical condition; uterine prolapse in children or nulliparous women without predisposing medical condition
Marfanoid features: - Dental crowding and high-arched or narrow palate
- Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria
- Arm span-to-height ≥1.05
- Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides
- Aortic root dilatation with Z-score >+2
| Must have ≥5 of these 12 findings |
| Feature B: Family history |
- One or more first-degree relatives independently meeting the current diagnostic criteria for hEDS
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| Feature C: Musculoskeletal complications |
- Musculoskeletal pain in 2 or more limbs, recurring daily for at least 3 months
- Widespread pain for ≥3 months
- Recurrent joint dislocations or frank joint instability, in the absence of trauma
- 3 or more atraumatic dislocations in the same joint or 2 or more atraumatic dislocations in 2 different joints occurring at different times
- Medical confirmation of joint instability at 2 or more sites not related to trauma
| Must have at least 1 |
| Criterion 3: All the following prerequisites MUST be met |
- 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 as a primary cause for signs and symptoms. In patients with an acquired connective tissue disorder (eg, systemic lupus erythematosus, 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 towards a diagnosis of hEDS in this situation.
- Exclusion of 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 and other hereditary disorders of connective tissue (eg, other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias.
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