Hypermobile Ehlers Danlos Syndrome
From WikiMSK
Diagnostic Criteria
Criterion 1: Generalised Joint Hypermobility
Must meet Beighton Score for age
Age | Beighton Score |
Prepubescent or adolescent | โฅ6 |
Pubescent up until age 50 | โฅ5 |
Over age 50 | โฅ4 |
Patients with Acquired joint limitations | BS 1 point under age requirements AND a positive 5PQ |
Criterion 2: At least 2 features must be present
Feature A:Systemic manifestations of CTD (need โฅ5)'
- Unusually soft/velvety skin
- Mild skin hyperextensibility
- Unexplained striaedistensae/rubrae
- Bilateral piezogenic papules of heel
- Recurrent/multiple abdominal hernia
- Atrophic scaring in โฅ2 sites
- Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women
- Dental crowding and high or narrow palate
- Arachnodactyly
- Arm span-to-height โฅ1.05
- Mitral valve prolapse
- Aortic root dilatation with Z score > +2
Feature B: Family history (1 or more first-degree relatives must meet criteria)
Feature C: MSK Complications(need โฅ1)
- MSK pain in โฅ2 limbs, recurring daily for โฅ3 months
- Chronic widespread pain for โฅ3 months
- Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b)
- โฅ3 atraumatic dislocations in same joint or โฅ2 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
- Absence of unusual skin fragility.
- 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.
- Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity