EHLERS E DANLOS

 

• EDS are heritable connective tissue disorders affecting the quality of collagen in every part of the body.
• There are now 13 recognised subtypes of EDS, 12 of which are genuinely rare and have the aberrant gene identified.
• Hypermobile EDS (hEDS) and hypermobility spectrum disorder (HSD) is by far the most common type; these conditions are part of a spectrum and the distinction is hoped to be useful for research, but is otherwise academic.
• hEDS/HSD is a multi-system disorder which can have a marked impact on health and which may help us to explain apparently mysterious multiple symptoms.
• Don’t let the changing terminology confuse you. 3.4% of the population have generalised joint hypermobility and chronic widespread pain (a proxy for the now obsolete diagnosis of Joint Hypermobility Syndrome (JHS).
• Patients who in the past received a diagnosis of JHS (or Benign JHS), EDS-Hypermobility Type or EDS Type III would now be categorised as having hEDS or HSD. New diagnostic criteria for hEDS (PDF).
• “If you can’t connect the issues, think connective tissues” Non-specific and medically unexplained symptoms are usually real and should not be dismissed. It can be easy to make a big difference to the quality of life of some of your most complex patients with a few simple and inexpensive measures, but the journey starts with recognition.
• The median time from symptom onset to seeking a GP opinion is 2 years and the median time to diagnosis 10 years¹. If we make an early diagnosis and manage the conditions appropriately, there may be potential to reduce long term disability which can occur from EDS.
• Enquire about family members; these are hereditary disorders of connective tissue so positive family histories are common. Although no gene has yet been identified, hEDS is primarily of autosomal dominant inheritance.
• Children can present with symptoms of hEDS/HSD, including abdominal symptoms or growing pains. They may also present with neurodevelopmental disorders such as hyperactivity, inattention, dyspraxia, autistic spectrum disorder, sleep and food issues, emotional problems, hypersensitivity and anxiety.
• A low Beighton score does not exclude hEDS/HSD. Patients stiffen with age so their Beighton score may decrease, although pain may worsen. The extent of multi-system symptoms is not related to the Beighton score.
• Consider co-existing conditions; In recent years, we have begun to understand more about associated or co-morbid conditions which are frequently found in people with hEDS, including autonomic dysfunction (postural tachycardia syndrome (PoTS) and symptomatic low blood pressure), mast cell activation syndrome (MCAS) and gastrointestinal dysfunction.

The key role of the GP at this moment in time is in diagnosing hEDS/HSD, validating the patient’s symptoms and co-ordinating care. hEDS/HSD isn't as rare as you may think.

¹Hakim, A. J.Rheumatology, Volume 51, Issue suppl_3, 1 May 2012. iii2 (I11) (Abstract)

 

If you can’t connect the issues, think connective tissues’

There are many ways in which you may begin to suspect a patient has hEDS/HSD. Some general clues which should alert you are (young) patients with multiple, or unusual symptoms and normal basic investigations. Patients may not respond as expected to usual treatments, be they medical, surgical, psychological, or the application of time. More specific complaints are detailed below.

This series of slides gives an overview of hEDS and associated conditions [PPT]

Common patient histories in General Practice

• ‘Just GAPE’ is proposed as a memorable, brief set of problems which may help to detect hEDS/HSD [PDF] :
  Joints and U/other Soft Tissues
  Gut
  Allergy/atopy/auto-immune
  Postural Symptoms
  Exhaustion

• Patient vignettes [PDF]

• Patient stories in their own words 

• Family history – this may increase your diagnostic suspicions, as people often know of a relative with an existing diagnosis, and you may be able to identify any children earlier in the clinical course

Big ticket (mis)diagnoses

The following diagnoses should prompt you to assess carefully for hEDS/HSD and also MCAS and PoTS/autonomic dysfunction.

• Joint Hypermobility syndrome

• Chronic Fatigue syndrome or Myalgic Encephalomyelitis

• Fibromyalgia or Chronic Pain syndromes

• IBS and functional dyspepsia

• Medically Unexplained Symptoms - Hypochondria, Hysteria, Conversion Disorder, Bodily Distress Disorder, Munchausen’s Syndrome

Visual representations of EDS

• Assessment wheel - hEDS & HSD [PDF]
• Hypermobility related disorders infographic
• Why the zebra?

• There are thirteen subtypes of EDS, most of which are very rare. This section focuses on the hypermobile subtype (hEDS) and the related condition hypermobility spectrum disorder (HSD), where there are features of hEDS but the full criteria are not met. These conditions are not rare.  As GPs, we may work with a ‘suspected’ diagnosis for each of these conditions without referring for confirmation. The associated conditions, approach to management and the prognosis are felt to be the same for hEDS and HSD, so there is no clinical necessity to state with certainty which label is applicable. 

  How should a GP approach the diagnosis and management of a patient with possible EDS/HEDS?  There is nothing in the medical literature to help with this task. As an EDS-aware GP, this describes the usual practice. This usually occurs over a number of appointments:

• Check the Beighton Score is at least 4 – ‘I used to be able to’ is acceptable

• Ask about family history of hypermobility and EDS. Bear in mind that relatives may have been misdiagnosed with fibromyalgia, chronic fatigue syndrome (see Big Ticket Misdiagnoses above).

• Look at the patient’s problem list – current and past – and seek conditions known or believed to be more prevalent in hEDS/HSD. Consider the Just GAPE questions.
  a. Joints and U/other Soft Tissues
  b. Gut
  c. Allergy/atopy/auto-immune
  d. Postural Symptoms
  e. Exhaustion

• Explain that you are considering whether they might have a problem with their collagen or mast cells or autonomic nervous system. It is common to ask the patient to take a look at evidenced based patient support websites in their own time (see section ‘resources for patients’). Often they will find connections you will not have had chance to cover. Sometimes they return saying that it doesn’t seem to connect.

• Usually there is relief or elation that at last a healthcare professional is recognising their symptoms as real and understands their relevance. Occasionally there is anger or denial, especially where a patient has experienced prolonged misdiagnosis.

• When suspecting EDS, always consider indications for referral, in particular, clues to rare subtypes (see Referrals section), but this is rarely the case. Whether a patient meets the full hEDS criteria or not has no impact on management.

• A symptoms-based approach to hEDS/HSD is then indicated. Discuss what issues are affecting the patient the most at present and work from there to build a long-term relationship of mutual learning.

• At the present time, the coding system does not offer us accurate codes, although an update has been requested. If you are confident of the diagnosis, you may code ‘EDS’. Otherwise, use symptom-based codes and write that you are considering the possibility of hEDS/HSD in free text. 

hEDS/HSD further reading

• The changing nomenclature of hypermobility [PDF]

• Update for clinicians on the new diagnostic criteria by EDS specialist Dr Alan Hakim

• One page diagnostic checklist for hEDS

• Video of how to check a Beighton Score

• A detailed piece on the approach to diagnosis by the non-specialist clinician [PDF]

• A summary of investigations which may be relevant [PDF]

• An article of the natural history of a patient with EDS/HSD over their lifetime

   

   https://www.rcgp.org.uk/eds 

   
  

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