Across a range of MSK conditions there is evidence of significant delays to diagnosis which result in avoidable morbidity and mortality. GPs have a critical role to play in reducing time to diagnosis. This article looks at the delays, their impact, and the resources available to GPs to support their referral decisions. Our simple message is #ThinkRheum.
Delay to diagnosis
Significant delay from symptom onset to diagnosis has been seen across a range of MSK conditions: an average of 6.4 yeas in Lupus , 8.5 years in axial spondyloarthrtis (axial SpA)  and an estimated 10 years in Ehlers-Danos syndromes (EDS).
Although some of the delay can be attributed to patients not reporting symptoms to their GP, the largest delays occur within the healthcare system. These include GPs not referring patients to rheumatology, referral letters to GPs from osteopaths and chiropractors not being actioned, and a lack of understanding among radiologists and other specialties. In a recent study, patients presenting with acute anterior uveitis (AAU) were evaluated clinically and with MRI in order to estimate the prevalence of axial SpA; the study found that one quarter of axial SpA patients were previously undiagnosed.
Impact of the delay
As with all conditions, rapid diagnosis is key to effective medical care and treatment. A delayed diagnosis can mean having to live with prolonged pain, with the untreated disease progressively worsening.
In Lupus, delay in accessing effective treatment also increases the risk of permanent organ damage and disability, and even death . Studies have shown that SLE patients who are diagnosed early, on average, have lower rates of mild, moderate and severe flares, and lower rates of hospitalisation . Early diagnosis can be especially important in cases of lupus nephritis with research demonstrating that a delay between the onset of nephritis and a renal biopsy constitutes an important risk factor of end-stage renal disease (ESRD).
Nadia, who lives with lupus said:
“I developed what I thought were my first symptoms of lupus (joint pain, muscle aches and fatigue) when I was 18 years old. I initially attributed these symptoms to the stress of an unrelated spinal surgery but as I developed more symptoms I started to suspect something else was going on. I was continually dismissed as overly anxious and made to feel like I was a hypochondriac. After developing severe heart-related symptoms and being admitted to A&E three times I started to look for answers myself. I read about lupus and identified with a lot of the common symptoms. I requested blood tests from my GPs which revealed positive results, but the significance of these results were not fully understood.
Finally, last year, at the age of 24 I paid for a private consultation where I was diagnosed with lupus within half an hour and prescribed treatment. The consultant believes that I may even have had symptoms of lupus (interstitial cystitis and anaemia) when I was 15. My diagnosis means that I have had to make significant changes to the way I live my life and I will always need treatment, but I now have answers and I won’t give up the fight. I visit my doctor a lot less now that I have a diagnosis! I was visiting the doctor weekly prior to diagnosis. I would say I go once a month now perhaps? If things are worse maybe every few weeks but overall my visits have decreased.”
In ax SpA, studies have consistently shown that the delay in diagnosis results in significantly worse disease activity index, functional index, spinal mobility and/or radiographic damage  as well as poorer treatment response.
One axial SpA patient told us:
“It took me 8 years to get a diagnosis from the onset of my symptoms, and I don’t think I would have been diagnosed now if I had not realised that I had AS from Googling it on the internet. I then went to my GP with a tick list of AS symptoms which I had and basically dared her not to refer me.
I was diagnosed within 6 weeks of that appointment and my family were devastated but I was strangely elated, as I felt like I had an explanation for my pain that could enable others to understand. In the years prior to diagnosis, I wasted hundreds of pounds on acupuncture, chiropractors and osteopaths and was fobbed off by numerous doctors, nurses and physiotherapists. If I had been diagnosed sooner, I feel that I wouldn’t have been viewed as ‘putting it on’”.
Gout is the most common form of inflammatory arthritis worldwide, currently affecting one in 40 people in the UK. It causes sudden and extremely painful inflammatory attacks in the joints (usually developing in the night or early hours of the morning) – most commonly the big toe, ankles and knees but any other joint too. Gout is eminently treatable yet fewer than one in five gout patients are prescribed urate lowering therapy within six months of their diagnosis, and only around one in four is on this treatment a year after diagnosis. Gout is a chronic and progressive disease and is often associated with many other serious health conditions including kidney disease, diabetes, heart attack and stroke. There is also a growing body of evidence demonstrating it leads to an increased risk of death. 
Security guard Fred Bloggs had his first attack of gout in 2010 but it wasn’t diagnosed until two years later. Fred feels his recent life has been completely blighted by his condition. He has spent lengthy periods in hospital and, on occasions, has been confined to a wheelchair.
He reckons he has lost thousands of pounds in income due to long periods signed off work (approximately ten weeks on statutory sick pay) and it has badly affected his employment record. “I started a new job this year and I had a bad attack soon afterwards, resulting in two weeks off work. It’s embarrassing, but what can I do? I’m afraid that I will soon become unemployable because of all my time off work.” Fred spent days trawling the internet for advice about his condition. He tried all the dietary recommendations such as cutting out high purine foods and increasing intake of fluids. “Nothing seemed to work.” He says he doesn’t drink alcohol. He is now permanently under the care of a specialist and long-term treatment.
Most types of EDS left untreated result in deconditioning as targeted exercise is key to keeping joints strong and preventing pain and dislocations. Undetected vascular EDS is potentially life-threatening due to aneurysms and organ ruptures. Unrecognised gut symptoms can lead to gastroporesis and the need for tube-feeding in extreme cases. Significant anxiety and depression can result from a delayed diagnosis; people with EDS have often been labelled with a mental health problem at some point in their search for a diagnosis.
Scleroderma affects just under 20,000 people in the UK based on new research published in 2018. Due to the lack of data relating to this rare condition, we cannot give an accurate time to diagnosis. For us this is one of the key challenges as without reliable data we are unable to lobby for change. Based on a survey conducted in 2017 45% of respondents said they waited 3 or more years to receive a diagnosis of scleroderma after presenting with their first symptom. 
Scleroderma is a rare and complex condition that presents in many ways, meaning the condition affects different people differently.
Grace, aged 57, has had symptoms of scleroderma since the age of 33, when she was diagnosed with Raynaud’s. It was another ten years before she was diagnosed with scleroderma.
“It was after quite a traumatic birth with my son that I started to notice symptoms, my skin was getting tighter, I had severe reflux and I began to struggle with everyday tasks. After continued visits to my GP, I was diagnosed with Rheumatoid Arthritis and put on various painkillers, which obviously didn’t work.
My breathing was getting worse and I was having repeat visits to A&E, thankfully on around my eight trip to A&E, I met a young doctor who noticed scarring on my lung x-rays. I was given an immediate referral to a lung specialist where I was diagnosed with scleroderma. On diagnosis, I started the maximum course of the chemotherapy, to stabilise the aggressive nature of the disease.
Due to late diagnosis the extent of my disability is huge, as my lungs, skin, heart, kidneys and oesophagus are all affected. I am on oxygen due to my severe lung disease but I still feel constantly breathless.”
Across a range of less common MSK conditions, delays to diagnosis result in avoidable costs to the NHS (multiple unnecessary referrals with no outcome; cost of multiple investigations with no useful outcome; inappropriate use of A&E services as no other service can meet immediate need, etc.) and costs to the economy through lost productivity.
Resources for GPs
The good news is that numerous resources are available to help GPs identify patients who may have one of these conditions and who need referral to rheumatology. These include:
GPs are critical to reducing delays to diagnosis in MSK conditions. Educational resources include:
- NICE guidelines for the diagnosis and management of ax SpA: https://www.nice.org.uk/guidance/ng65
- BSR’s guidelines on managing SLE in adults: https://academic.oup.com/rheumatology/article/57/1/e1/4318863
- BSR’s guideline for gout: https://academic.oup.com/rheumatology/article/56/7/e1/3855179
- Information about types of EDS, symptoms and diagnosis is available here: https://www.ehlers-danlos.org/what-is-eds/information-on-eds/diagnosis/
- RCGP E-learning module on Spondyloarthritis: http://elearning.rcgp.org.uk/course/info.php?id=229
- RCGP E-learning module on inflammatory arthritis: http://elearning.rcgp.org.uk/course/info.php?id=229
- LUPUS UK’s Guide to Diagnosis and Treatment: https://www.lupusuk.org.uk/medical/gp-guide/
- LUPUS UK’s guide to introduce nurses to systemic lupus erythematosus (SLE): https://www.lupusuk.org.uk/medical/nurses-guide/
- NASS resources for healthcare professionals: https://nass.co.uk/nass/en/healthcare-professionals/resources-for-health-professionals/health-professional-resources/
- Ehlers-Danos Support UK resources for healthcare professionals: https://www.ehlers-danlos.org/what-is-eds/information-on-eds/healthcare-professionals/
Delays to diagnosis are severe, have significant impact on patients and their families and are costly to the NHS and the economy. GPs are critical to reducing delay by earlier referral to secondary care and have access to a range of resources to support clinical decision-making and ensure timely referral.
 Morgan C, Bland A, Maker C, Dunnage J, Bruce I et al., (2018) ‘Individuals living with lupus: findings from the LUPUS UK Members Survey 2014’, Lupus (27): 681-687
 Sykes M, Doll H, Sengupta R & Gaffney K (2015), ‘Delay to diagnosis in axial spondyloarthritis: are we improving in the UK?’, Rheumatology, July
 Sykes MP, Hamilton L, Jones C, et al. (2018) ‘Prevalence of axial spondyloarthritis in patients with acute anterior uveitis: a cross-sectional study utilising MRI’. RMD Open;4:e000553. doi:10.1136/ rmdopen-2017-000553
 British Society of Rheumatology (2016) A collaborative approach to improving outcomes in rare rheumatic and musculoskeletal diseases: report from a national workshop
 Oglesby A, Korves C. Laliberte F, Dennis G et al. (2014) ‘Impact of early versus late systemic lupus erythematosus diagnosis on clinical and economic outcomes’, Appl Health Econ Health Policy April 12(2): 179-190
 Faurschou M, Starklint H, Halberg P & Jacobsen S (2006) Journal of Rheumatology, Aug; 33(8): 1563-9
 Soe M, Baeek H et al., (2015) ‘Delayed diagnosis is linked to worse outcomes and unfavourable treatment responses in patients with axial spondyloarthritis’ Clinical Rheumatology, 34(8): 1397-405
 RAIRDA patient survey 2017 – extrapolated scleroderma data