Initial Diagnosis by Clinical Evaluation
Quick questions designed to assist GPs
Due to demand on Services, many GPs are only able to offer 10 minutes for routine appointments. With this in mind, Dr Alan Hakim (Consultant Rheumatologist and Associate Professor in Medicine; and Director of Education and Chief Medical Officer to the Ehlers-Danlos Society) has devised a list of questions to help GPs, faced with a patient describing multi-system dysfunction (who they may suspect has a hypermobility related disorder) elicit sufficient information to decide if further investigation would be beneficial. The list can be found by clicking here.
Diagnostic criteria for hEDS
Diagnosis for hypermobile Ehlers-Danlos syndrome is carried out by clinical evaluation.
The pathway to EDS/HSD diagnosis starts with a physical examination, using the Beighton Scale to assess how mobile joints are, a search for abnormal scarring and testing the skin to determine what it feels like and how much it stretches, as well as any additional tests they physician feels are needed. There should also be a look into a patients medical history to look for conditions and problems associated with EDS/HSD, and a discussion about family to help determine if an EDS/HSD was inherited (1/Ehlers-Danlos Society 2017).
The 2017 International Criteria for hEDS (incorporating the Beighton Score for generalised joint hypermobility) has been laid out below in Box 2. The criteria for other types of Ehlers-Danlos syndrome can be found on by clicking here:
This criteria is based on an international consensus between hEDS experts.
Please note that, when using the Beighton Score to diagnose generalised joint hypermobility, several additional points need to be taken into consideration. These are shown in Box 3 and include:
• The need for other symptoms to be present.
• Score adjustments that may need to be made relating to age, past surgeries etc.
• The need for all joints to be assessed (not just those described in the scale).
The latter is well illustrated by a parent of children diagnosed with HSD, who herself has the condition, she writes:
'My daughter can't touch her thumb to her wrist let alone her palms to the ground, but my son and I both can. My daughter's elbows, shoulder, hips and thumbs ARE hypermobile. My son scores very low number on the Beighton scale; he can't touch his thumb to wrist, but he can bend all his fingers together beyond 90 degrees backwards, and also has hypermobile shoulders, hips, patella and other joints!'
Having clinically assessed a patient using the diagnostic assessment criterion shown in Boxes 2 and 3 , and considered and excluded all other differential diagnoses (criterion 3, Box 2), those who meet the criteria for hypermobile Ehlers-Danlos syndrome (hEDS) should receive this diagnosis. (NB/ An ‘EDS Types Chart’ showing each subtype, inheritance patterns, and genetic basis and the protein involved (where known) can be found by clicking here.
As discussed in the 'What are hEDS & HSD' section, there are a range of conditions which can accompany hEDS, although, as yet, there is not enough data for them to become diagnostic criteria (while they are clearly associated with hEDS, they are not proven to be the result of hEDS). Some of these include sleep disturbance, fatigue, cardiovascular autonomic dysfunction (such as postural orthostatic tachycardia); anxiety and depression; mechanical and neuropathic bowel dysfunction (hernia, reflux, sluggish bowel and constipation), chronic bowel inflammation (inc. mast cell activation); myopia, astigmatism; poor response to local anaesthetic; pelvic floor weakness, rectal and/or uterine prolapse, chronic bladder inflammation (inc. mast cell activation); influence of progesterone - worsening musculoskeletal symptoms; also heavy and painful menstrual cycle; musculoskeletal and pelvic complications of pregnancy; and anxiety disorders,
such as panic disorder and agoraphobia (9/ Hakim (HMSA) 2017 / 2/Ehlers-Danlos Society 2017)
For the patient, these other systemic manifestations may be more debilitating than the joint symptoms, often impairing functionality and quality of life, and should always be determined during clinical encounters. While they are not part of the diagnostic criteria, the presence of such systemic manifestations may prompt consideration of hEDS in the differential diagnosis (2/Ehlers-Danlos Society 2017).
Hypermobility Spectrum Disorder
Those individuals with hypermobility-related problems that meet the Beighton Score criteria (see Box 3), and who experience one or more of the secondary musculoskeletal manifestations described in Box 3 point (i), but who do not meet the full criteria for hEDS or any other heritable disorder of connective tissue, should be given the diagnosis of hypermobility spectrum disorder (HSD) (Castori M. et al 2017 / Hakim A. 2017c). The subtype of HSD is then distinguished based on which joints are hypermobile (see Box 4).
Remember, where a patient’s diagnosis is placed within the spectrum of hypermobility related disorders does not necessarily represent severity of symptoms experienced, it represents the range of symptoms experienced. The overall spectrum isn't strictly linear from least to most severe, it represents the range of symptoms seen in patients from single joint issues through to the ‘syndrome of disorders’ seen in hEDS. HEDS and HSD symptoms can be equal in severity, and both need similar management, validation and care.’
The Royal College of General Practitioners recommend the book below as a resource for patients and their carers; and as a training/education and QI (quality improvement) tool for health care professionals.
Redcliff-House Publications are approved Supplier to NHS Foundation Trusts.
For more information click here
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