Hypermobility syndromes (hypermobility spectrum disorder is previously known as Joint Hypermobility Syndrome, and heritable disorders of connective tissue including Ehlers-Danlos syndromes, Marfan syndrome, Osteogenesis Imperfecta, Sticklers syndrome, and other hypermobility associated conditions), are long term health conditions in their own right but they are frequently associated with a wide range of comorbidities. As a result, multiple disciplines are involved in the diagnosis, treatment and management of people with hypermobility syndromes, across a range of primary, secondary and tertiary services, assisted by third sector organisations, such as the HMSA.
Due to the genetic inheritance patterns, professionals may be working with a number of family members at any one time. And that even within a family group, symptoms are still very varied and therefore needs may be very different.
From a patient point of view, these services are often disjointed, with lack of service provider’s knowledge and no clear pathway available. Patients report that they feel disbelieved, frustrated and lack confidence in the professionals they see at appointments. 55% of the HMSA members who participated in a snapshot survey in 2012, report that it takes 10 years or longer to get a diagnosis. In the same survey, good care experiences were significantly improved when delivered by specialist services. This appears to be because of validation of symptoms and condition specific advice. This can actually be replicated locally with the right education, largely in primary care.
Lack of early diagnosis and access to treatment has a significant impact on the level of functional ability, increasing psychosocial issues with a wider impact on family, friends, employers etc. Many patients find that they end up retiring on medical ill-health grounds or have to leave their employment because of worsening symptoms. Many younger patients struggle to stay in education and do not continue further education as planned. A significant number of patients with one of the hypermobility syndromes are unemployed, and on DWP benefits. With changes to the benefit system in the UK, many patients find they are under pressure to return to, or gain employment, despite having a lack of skills needed to manage their symptoms and awareness of what can be done to make employment or further education achievable.
There is a significant lack of resources for teaching people how to live well with their hypermobility syndromes, the secondary specialists services are not joined up and often do not recognise the associated comorbidities, and there is a severe shortage of tertiary provision, all hampering effective condition management. Incorporating third sector organisations into education services and service delivery can assist with meeting the needs of this population of patients without the need to refer out of area.
The overall effect of this is that, in relation to hypermobility syndromes, medical professionals are struggling to
Diagnose patients with hypermobility syndromes
Know what to do with a patient after diagnosis
Give appropriate management advice in the time available
Give appropriate treatment
Know when to refer them to other services – and where to refer them.
This in turn means further deterioration of symptoms pending appropriate diagnosis, treatment and management, leading to an even greater strain on the system;
more GP appointments
increased referrals to local services (primary, secondary and tertiary)
increased referrals to ‘out of area’ services
The Usual Experience
Many patients have negative experiences – 55% of our patients reported a wait of over 10 years from symptom onset to diagnosis and see a huge range of primary, secondary and tertiary professionals. This usually comes with a long history of incorrect diagnoses ineffective treatments and inappropriate management advice – while the patient experiences an escalation of symptoms and break down of trust which can become a barrier to future treatment. Diagnosis of HSD and hEDS is currently often done via referral to a rheumatologist – with patients often demanding a tertiary referral to one of the ‘specialist centres’. Rarer types of hypermobility related conditions tend to be diagnosed by a geneticist.
Given how common HSD and hEDS are belived to be, this cannot be a sustainable ‘normal pathway’ for all.
In addition, the GP may not have the knowledge and skills to confidently work with this patient group even after diagnosis has been made, and would benefit from access to advice and support from additional local professionals and patient charities like the HMSA.
It’s time for this to change!
A better system:
It is our believe that the vast majority of patients with a hypermobility syndrome can be diagnosed and managed at primary care level, with referral to secondary level only dependent on comorbidities and complexities, or to access various services such as physio, OT, podiatry etc.
For some people with either very complex issues or those with suspected rarer types of hypermobility syndrome, tertiary service input may be of benefit, and indeed be the correct means to proceed for the primary and secondary service professionals involved – the HMSA Education Model resources will help professionals to recognise when referrals are needed.
For some patients, access will only be required to certain services as a ‘one-off’, although in a minority of cases more prolonged involvement of secondary or tertiary services may be needed.
What the HMSA is doing
The HMSA Education Model aims to give professionals confidence in their skills and knowledge, as well as in the services they may refer the patient to, and simultaneously give patients the confidence that their needs have been understood, potential risks appraised and comorbidities recognised, leading to access to the best evidence based practice in treatment and management, either in their local area or in a few cases at recognised centres of excellence.