Patients with a condition that has long been considered rare, may not be getting the diagnosis and treatment they need, suggests a patient and former community pharmacist.

Lisa Jamieson, who has Ehlers-Danlos Syndrome (EDS), began her career as a community pharmacist, before moving into primary care clinical pharmacy and clinical commissioning - and later into clinical research to find out more about her condition.

She currently runs a healthcare consultancy business at the interface between the pharmaceutical industry and the NHS.

‘I was 40 when I first heard of EDS,’ Ms Jamieson tells the Pharmacist.

It was not a condition that she had come across before as a health professional.

Her experience is by no means unusual, she says. ‘Many healthcare professionals have never heard of the condition’ she explains, ‘and why would they, when it’s considered a rare genetic disorder.’

But some forms of the condition may be less rare than previously thought.

There are 13 different types of EDS, all of which affect people in different ways. For some, the condition is relatively mild to manageable, while for others their symptoms can be debilitating. Some forms, including vascular EDS, which affects the blood vessels and internal organs, are rare and life-threatening.

Ms Jamieson was diagnosed with the hypermobile form of EDS known as hypermobile Ehlers-Danlos syndrome (hEDS); the most common type of EDS. This form of EDS can present itself in a number of different ways, including joint hypermobility in the small and large joints; soft, smooth skin that may be slightly stretchy and that bruises easily, as well as chronic musculoskeletal pain.

Although hEDS does not generally impact life expectancy, it can severely impact quality of life.

For many years, EDS has been viewed as a rare genetic multisystemic condition that affects the body’s connective tissues. It has been quoted repeatedly in published literature that it affects 1 in 5,000 people, after the estimate was published in a textbook.

However, a recent study has suggested that around 1 in 500 people – 70% of whom are women — have already been given a diagnosis of EDS or joint hypermobility syndrome (JHS). Others may be undiagnosed, or been given a different diagnosis.

Her story

In 2014, Ms Jamieson developed a severe headache, which was later diagnosed as a spontaneous spinal cerebrospinal fluid (CSF) leak.

While she recovered she researched symptoms that she’d been experiencing for most of her life, and came across EDS and more specifically, hEDS, which seemed to match her experience.

From a young age, Ms Jamieson suffered from a range of seemingly unconnected health issues - from joint dislocations, musculoskeletal pain, gastrointestinal dysfunction, autonomic dysfunction, allergy symptoms and migraines - most of which she had managed with over the counter medicines.

Later that year, Ms Jamieson was formally diagnosed with hEDS.

After discovering there was a little published evidence on treatments to manage her condition, she began experimenting with different foods and nutritional supplements, building on what she had learnt from her nutritional medicine MSc studies.

Based on her own experience of managing symptoms through nutrition, she proposed a research project on the impact of dietary changes on patients with hEDS, and became a part-time research fellow at the Wingate Institute for Neurogastroenterology and The Royal London Hospital. However, she was later forced to stop the research due to a lack of funding.

There is currently no test to diagnose the hypermobile type, and many GPs and pharmacists are not aware of it. As a result, Ms Jamieson says, many people with EDS are likely to go without a diagnosis.

‘The reality is, that this is not rare,’ she argues, 'but, if you do not think you are ever going to come across something, you will not learn about it.’

‘No drug has got EDS as its licensed indication: so why would a pharmacist know about it? Some pharmacists might be aware of the disorder through the media, but there is no formal education about it for pharmacists anywhere.’

In addition, hEDS does not currently feature in NICE guidance, she says, despite the fact that many of the comorbidities people with the condition experience, such as headaches, migraine, indigestion, IBS, and back pain, do have clinical guidance, but do not mention hEDS as a risk factor.

What can pharmacists do?

Community pharmacists can help patients with EDS by providing medicines advice, she suggests.

‘These patients are at risk of severe side effects, due to the very nature of the condition, and the fact that many of them are on multiple medications.’

She adds: ‘It is not only important for pharmacists to ensure their patients understand the potential side effects, but also that the medicines they are taking might be treating side effects of other medicines they are on.’

‘Acid-suppressing medicines, for example, can inhibit the absorption of some nutrients which could cause other side effects,’ she explains.

Some EDS patients can also be allergic to a medicines coating, or ingredients in the drug, rather than the active ingredient itself.

‘It’s important to believe these patients when they come to you and say they reacted badly to one version of a drug, but not the other. It might not be the active ingredient that they are allergic to, but the alternative tablet coating for example,’ she says.

‘Some people with EDS need to avoid lactose and sometimes lactose is used as a filler in medicines. Pharmacists can help source an alternative version.’

Pharmacists who are aware of EDS may be able to recognise people who may have the condition and refer them on.

‘People with EDS tend to be on lots of different medications, such as for their gut or allergies they may have. Understanding what patterns of different medicines people with EDS usually take is to start to understand the condition itself and spotting it,’ she explains.

For those who do get a diagnosis, there is no specific treatment pathway, she says, although support can be offered in the form of physiotherapy and pain management.

Awareness month

May is EDS awareness month, and Ms Jamieson believes awareness of the condition needs to be promoted within the NHS and towards those who can make a difference to patients' lives, rather than the public. ‘It is important that people can notice when they have this condition.

'However, if there are no services and no one who understands the condition, and there is no strategy in place to change that, then awareness is just simply going to ensure more and more people find out they have it, and more and more people cannot get a diagnosis or cannot get help,’ she says.

NHS England — responsible for services for rare conditions — currently funds services for the rare forms of EDS. But because the hypermobile type is not considered rare in terms of commissioning, there are no specific services for this form of the condition.

So, there is a gap in provision, she suggests.

‘This means CCGs should be responsible for commissioning services for the hypermobile type, but while the narrative remains that the condition is rare and not commonplace, CCGs do not see it as their responsibility either, so these people end up falling down the cracks,’ Ms Jamieson explains.

She believes there should be more discussion at the decision-maker level to work out who is responsible for this group, why services do not exist, and how to change that.

‘It’s such a shame, because all these people get diagnosed and then they just feel abandoned and are left languishing.’

Until the narrative that hEDS is ‘rare’ shifts, ‘nothing is going to change', she warns. ‘Primary care clinicians will not be educated on the condition; research into it will not be funded, and people will continue to fall through the cracks.’