Hypermobility (hypermobile Ehlers Danlos syndrome)

DGRefHelp - NHS Dumfries & Galloway
NHS Dumfries and Galloway

Ehlers Danlos is a group of inherited conditions affecting connective tissue. Symptoms can include stretchy skin, hypermobile or unstable joints.

It is typically follows autosomal dominant inheritance.

It is a genetic condition rather than an immune or rheumatological one and there are no pharmaceutical treatments for it.

The genetic forms of Ehlers Danlos are rare, some with just a few families worldwide who will almost certainly have been identified in early childhood. Genetic testing is available for these types.

Hypermobility syndromes, however, are common and terminology is confusing and often unhelpful. Precise sub-classification of these syndromes is not useful outside of research, however, patients may find it helpful to have a clear diagnosis.

Hypermobile Ehlers Danlos is the commonest type and has no genetic test available. It can be diagnosed clinically.

 

Assessment

In a patient presenting with hypermobility, with or without arthralgia first exclude inflammatory arthritis:

  • Persistent joint swelling
  • Warmth
  • Raised CRP

Patients with hypermobile Ehlers Danlos (hEDS) may present with:

  • Easy bruising
  • Recurring joint subluxation
  • Autonomic dysfunction
  • Positive family history

 

If the patient has any of the following symptoms/signs then they may have one of the rare genetic forms of Ehlers Danlos or Marfans and referral to Clinical genetics should be considered:

Classical Ehlers Danlos
  • Very stretchy skin
  • Atrophic scars
  • Arterial fragility or rupture
  • Intestinal fragility or rupture
  • Kyphoscoliosis
  • Scleral fragility
  • Skin fragility/sagging
Marfans
  • Arachnodactyly
  • Tall stature
  • Arm span more than height
  • Pectus abnormality
  • Scoliosis
  • Pes palnus
  • Thoracic aortic aneurysm
  • Myopia/lens subluxation

In the majority of cases the patient will have none of these and can be assessed for hypermobility syndrome/hEDS.

 

Beighton's score

Sign Score
Can you put your hands flat on the floor with your knees straight? 1 point
Can you bend your elbow backwards? 1 point per side
Can you bend your knee backwards? 1 point per side
Can you bend your thumb back on to your forearm? 1 point per side
Can you bend your pinkie to 90deg to the back of your hand 1 point per side

A score of 4 or more out of 9 suggests joint hypermobility.

This is enough to make a diagnosis of a hypermobility syndrome.

Patients may request a diagnosis of hEDS. This can be done by working through the diagnostic criteria here. This does not alter management in any way, which is still physiotherapy based.

Who to refer

Refer patients to rheumatology where a rheumatological condition is suspected due to joint swelling, raised inflammatory markers etc.

Refer to genetics patients with symptoms or signs suggestive of Marfan's or Classical Ehlers Danlos. Refer via SCI-Gateway DGRI...Clinical Genetics...General

Refer to physio patients with hyper-mobility and joint problems but none of the above features via SCI-Gateway Mountainhall Treatment Centre...Physiotherapy...Physio,OT,podiatry

Who not to refer

Many patients are referred to rheumatology for confirmation of diagnosis but this can be done clinically in primary care and appropriate management by physio arranged.

Resources

Patients can be directed to NHS Inform - https://www.nhsinform.scot/illnesses-and-conditions/muscle-bone-and-joints/conditions/joint-hypermobility/

Ehlers Danlos Society - https://www.ehlers-danlos.com/

Ehlers Danlos Support UK - https://www.ehlers-danlos.org/

Hypermobility Syndromes Assoxiation - https://www.hypermobility.org/

Editorial Information

Last reviewed: 27/11/2023

Next review date: 25/11/2025

Author(s): Anne Drever.

Version: 1.0

Approved By: DRAFT

Reviewer name(s): Fergus Donachie.