Diagnostic Criteria for hEDS

Hypermobile type Ehlers-Danlos syndrome (hEDS) is typically diagnosed based on a combination of clinical presentation, family history, and genetic testing. 

A physical examination will typically include a thorough evaluation of the skin, joints, and connective tissue for signs of hypermobility and abnormal skin elasticity.

A medical history will also be taken to gather information about any related symptoms or family history of the condition. Genetic testing may also be done to confirm a diagnosis of hEDS, but it is not always necessary for diagnosis. In some cases, a diagnosis of hEDS may be made based on the presence of certain clinical criteria alone.

The Beighton score and the Brighton criteria are often used for a formal diagnosis.

Beighton score

One point for each you can do, up to a maximum of 9 points:

  • Can you put your hands flat on the floor with your knees straight? (1 point)
  • Can you bend your elbow backwards? (left 1 point, right 1 point)
  • Can you bend your knee backwards? (left 1 point, right 1 point)
  • Can you bend your thumb back on to the front of your forearm? (left 1 point, right 1 point)
  • Can you bend your little finger up at 90º (right angles) to the back of your hand? (left 1 point, right 1 point)


Other symptoms need to be present so a high Beighton score alone doesn't necessarily mean a person has a hypermobility specturm disorder. Likewise, a low score should be read with caution as there are a number of body sites that are not taken into consideration, where there could be widespread pain e.g; jaw, cervical spine, shoulders, hips, thoracic spine, ankles and feet.

Brighton criteria

Major criteria 

  • Beighton score of >4
  • Arthralgia for longer than 3 months in four or more joints

Minor criteria 

  • Beighton score of 1, 2, or 3
  • Joint pain (>3 month duration) in one to three joints or back pain (>3 month duration) or spondylosis, spondyloysis/spondylolisthesis
  • Dislocation or subluxation in more than one joint, or in one joint on more than one occasion
  • Three or more soft tissue lesions (eg, epicondylitis, tenosynovitis, bursitis)
  • Tall, slim, span greater than height (>1.03 ratio), upper segment less than lower segment (<0.89 ratio) (marfanoid habitus), long and slender toes and fingers (arachnodactyly), being able to overlap your thumb and fifth finger when wrapped around the wrist (positive Steinberg test)
  • Skin striae, hyperextensibility, thin skin, or abnormal scarring
  • Drooping eyelids, myopia, downward slanting eyes
  • Varicose veins, hernia, or uterine or rectal prolapse
  • Mitral valve prolapse

The Brighton criteria differentiate someone who is hypermobile from one who has hEDS as it includes not just range of movement measures but signs of faulty collagen and positive responses to joint pain.

Formal diagnosis consists of any one of the following:

 Two major criteria
 One major plus two minor criteria
 Four minor criteria
 Two minor criteria and an unequivocally affected first degree relative in family history.

Additional symptoms

While pain and fatigue constitute a large part of the condition, symptomatic hypermobile people suffer from various combinations of additional symptoms, some of which are listed in the Brighton Criteria and most of which are listed below. 

Primary

  • Pain  –  hEDS causes both chronic and acute pain without the inflammatory component of other rheumatological diseases. Normal NSAID protocols may not be effective.
  • Muscle stiffness, tightness and fatigue  - muscles need to work harder to stabilise the joints and counteract muscle imbalances.
  • Popping or clicking of joints with movement
  • Frequent dislocations or subluxations
  • Reduced proprioception
  • Hyperextended joints
  • Recurring musculoskeletal problems  –  such as tendinitis, bursitis and repeat sport injuries in a number of sites.  

Secondary symptoms and comorbidities

These are generally (but not all) related to the mild autonomic neuropathy that is often present and lack of integrity in the collagen in connective tissue in body sites not related to the joints, such as the gastrointestinal and circulatory systems.

  • Irritable bowel syndrome
  • Easy bruising, stretch marks, slow wound healing
  • Severe Raynaud’s phenomenon – for most this is usually triggered in cold temperatures, or by anxiety or stress. With hEDS it can also be present at other times
  • Hypotension
  • Asthma
  • Anxiety
  • Insomnia
  • Headaches  –  due to lack of stability in the neck muscles, shoulder stabilisers and thoracic spine
  • Menorrhagia and menstrual cramps
  • Local anaesthetics – insufficient pain relief from anaesthetics and painkillers
  • Lower back pain
  • Crowded teeth
  • Stress incontinence

Additional cardiovascular issues can be present in severe cases of other types of EDS. Because of the individual presentations, formal diagnosis is often missed and no link made between the symptoms.  

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