Background

Evidence suggests that pathways leading to myeloma diagnosis can be difficult. Compared to patients with other cancers, those with myeloma are the more likely to have multiple GP consultations before hospital referral and present via an emergency route; with such factors resulting in prolonged times to diagnosis [1–3]. This is concerning as these patterns tend to be associated with more advanced disease, and poorer quality of life and survival [1,4–6]. For well over a decade, early diagnosis has been promoted in the UK through policy, targets and guidance [7,8]. Whilst the latter has reduced the average time to diagnosis of some cancers, this is not so for myeloma, where the interval between first presentation with symptoms in primary care and diagnosis has in fact increased [3].

With an estimated 4,300 new diagnoses annually in the UK, myeloma is a relatively rare disease; median age of onset is around 73 years and it is more common among males than females [9]. Existing UK research exploring events before diagnosis largely examines time-intervals, derived from nationally collected routine data or large surveys [1,10,11]. There is currently no published qualitative evidence from patients about their experiences during this time. The present study addresses this deficit, exploring the experiences of patients’ (and their relatives’) in the time leading to diagnosis, their perceptions of whether delays occurred, and if so, why. We focus on the time from detection of a health change to first help-seeking with a healthcare practitioner (the appraisal and help-seeking intervals), and the time from first help-seeking to diagnosis (the diagnostic interval) [12].

Methods

We conducted a qualitative study [13], undertaking in depth interviews to generate rich narratives from patients and their relatives, which were analysed to provide insight and understanding about how participants made sense of their pathways to diagnosis.

Results

The pathways described generally demonstrated a complex interplay between patients and GPs over time. This process was not typically linear (i.e. moving in one direction from appraisal, to help-seeking, then diagnosis), but often involved patients appraising and reappraising health changes and symptoms as their disease progressed and seeking help on multiple occasions.

Reflective of our intent to include people with varying experiences, time to diagnosis differed markedly between patients (Table 1). Based on estimated dates provided by participants, the time from initial health change to first help-seeking with a healthcare practitioner ranged from around 1 to 7 months, and from help-seeking to diagnosis it was 2 weeks to 17 months. Patients reported between one and ten primary care consultations with what they considered (in hindsight) to be myeloma symptoms, before the referral leading to diagnosis. Twelve of the 20 patients considered their diagnosis delayed: ‘I just think, you know, they maybe could have found it earlier’ [Patient (P) 15]. Correlations between ‘delay’ and time to diagnosis varied, however, with a patient diagnosed in under four months of the initial health change perceiving delay, whilst another diagnosed after around a year did not.

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Table 1. Characteristics of interviewed myeloma patients (n = 20), health changes/symptoms and pathway to diagnosis.

https://doi.org/10.1371/journal.pone.0194788.t001

Interviewees described a wide range of changes in their body and health prior to diagnosis (Table 1), not all of which were initially considered symptoms of ill-health or cancer-related. Bone pain featured prominently, typically affecting the back, chest, shoulder blades, ribs or neck. This could be very severe (sometimes to the extent that physiotherapy could not be tolerated), and in some cases the pain was later attributed to fractures. Pain was also said to fluctuate at times or move from place to place: ‘it was persistent, and the thing was, it kept moving. It was here, and then it was here, and the pain in my back was moving’ [P05]. Fatigue was a frequent problem and often considered persistent and unusual. Pain and fatigue combined appeared to have a major impact on the ability of patients to perform their usual everyday activities (e.g. mobilising, climbing stairs, driving, household tasks and hobbies): ‘I felt that I was worn down by the pain by that time… I just didn’t feel like doing anything ‘cause it hurt. Yeah, so you just sat still and when you’re sat still, you’d fall asleep’ [P02].

Health changes were commonly gradual in onset, subtle and non-specific, factors that were said to deter help-seeking: ‘yes, I could have been diagnosed more quickly if I’d gone to the doctors’ more quickly, but I didn’t realise there was anything wrong with me to go to the doctors’, so, you know I certainly can’t fault what happened… once I went’ [P05]. An overarching sense of malaise was also sometimes described, or an unwell feeling that was hard to define and explain: ‘It’s very difficult to say. One of the things was nausea, erm, but other than that I find it very hard to explain how I felt, and in the end I just ended up by saying to the doctor, “it’s just a feeling of malaise. I can’t explain how I feel”‘ [P14].

Appraisal was often complicated by the presence of comorbidities and, even in retrospect, it could be hard for patients to be sure of the extent to which their health changes were due to myeloma. Explanations were often initially found, with most patients having a ‘normalisation’ phase, in which alterations were attributed to factors such as the ageing process, a non-serious injury (e.g. pulled muscle), a new manifestation of a historical problem (e.g. bad back), or a consequence of medication: ‘It was… a gradual process, which I put down to old age… (and) I’d had a bad back, so I was quite sort of willing to accept that my back hurts a bit’ [P03]. Another common explanation was life changes or stress: ‘we’d got my daughter, son-in-law and three-year old living here… so it was very, very hectic here, and stressed’ [P02].

Some responded to their progressive symptoms by lifestyle adaptations: ‘I gave up the (hobby) but carried on working and eventually didn’t do the heavy lifting… I could carry on doing what I had to do, but I stopped doing all the things that I didn’t have to do’ [P02]. One patient described an active decision to defer re-presenting to the GP due to what, in part, appeared to be fear: ‘I suppose deep down I didn’t want to know anything else, you know, we’re back to this thing that you know I think we are frightened, we do get frightened occasionally that… there is something more serious and so if you can sort of, pretend that it’s just a bad back, you’re quite happy to just accept that’ [P03].

A recursive process of reflection was then described whereby, in response to the severity, persistence, peculiarity or disruptiveness of changes, many patients came to question their initial appraisal, re-categorising and re-conceptualising their symptoms as abnormal: ‘I just couldn’t do anything. I mean I’m used to a fairly active (life), even though I’m retired, I’ve an exercise bike in there…, which I used to go on every day and do 10 to 12 mile. When I started that I couldn’t do one mile… I knew–alarm bells–there was something wrong’ [P10]. Pain moving from place to place was often recognised as abnormal and said to promote help-seeking. Despite this, the suspicion of cancer (of any type), typically remained low: ‘cancer was miles from my mind’ [P13].

Family members were said by some interviewees to have influenced their help-seeking behaviour: ‘well, to be honest, the only reason I went (to GP) was because everybody was pestering me to go’ [P02]. Occasionally, relatives acted as advocates on behalf of patients in consultations or contacted GPs independently: ‘I knew you weren’t right, and that’s why I ended up writing that letter (to GP)’ [relative of P12]. In some instances, help-seeking occurred secondary to consultation for another issue: ‘the second PSA test… meant I had to go back to the GP. And so I told him about (the frothy urine)’ [P11]. Help was sought from a range of professionals including pharmacists, the NHS non-emergency telephone helpline (111), physiotherapists, or Accident and Emergency departments (A&E), but most initially went directly to a GP, and all eventually consulted a GP (Table 1).

Some patients felt they themselves had contributed to their late diagnosis, believing it was their responsibility to recognise the need for professional help, seek this promptly, and provide good information to practitioners: ‘looking back, I misled (the GP), because I assumed, (the malaise was) because I should never have moved in with (partner), which as it happens, wasn’t the case… but that’s the way my mind was going, because (the malaise) coincided’ [P20]. Generally, interviewees also recognised the challenges of diagnosing myeloma: ‘because it’s quite a rare cancer, some GPs might never deal with a patient who has myeloma’ [P14].

Patient accounts often suggest that they believed their GPs did not initially tend to consider their health changes as indicative of myeloma, or something serious requiring further investigation. Interviewees often recalled GPs offering non-malignant explanations for their symptom(s), with preliminary diagnoses including chest and throat infections, oral thrush, a strain, sciatica, wry neck, restless legs, benign cysts, depression and Tietze syndrome. These diagnoses determined initial management strategies, which generally comprised reassurance, observation, treatment, and/or referral to an allied health professional. For example, where back pain was considered mechanical, analgesia and anti-inflammatories were commonly prescribed, often with advice to consult a physiotherapist or osteopath: ‘They sent you to the sports gym first of all, didn’t they, saying you’d got sciatic nerve trouble’ [relative of P03].

In the first instance, patients generally accepted the preliminary diagnoses: ‘originally, you know, I’d got confidence in his, in his, diagnosis. He sort of described what I was feeling’ [P02]. They often understood the GP’s rationale: ‘I think with my symptoms and the way I presented them to (GP), it was perfectly logical for him to come to the conclusion that he did’ [P02]. GP doubts regarding their preliminary diagnosis/management were considered pivotal to their reappraisal of symptoms and a change in the patient’s management. Triggers for reappraisal were patients’ re-presentation due to lack of improvement, their growing conviction that ‘something’s wrong’, further deterioration, or the development of new symptoms. Reappraisal often led to the instigation of investigations: ‘I think he was under the impression that what he’d given me should have worked and he was as surprised as I was when I went back, which is why he put me down for the endoscopy’ [P06]. Although not necessarily resulting in suspicion of myeloma, such investigations frequently identified abnormalities that prompted further tests, referral to secondary care, or emergency admission: “Yeah, well, I think obviously they saw they were bad (blood results), so they acted on them straightaway” [P05].

Interviewees recalled between one and four hospital referrals before diagnosis (Table 1). Around a third reported at least one emergency presentation (via A&E or a direct ward admission), instigated by themselves, the NHS non-emergency telephone helpline, or their GP. Input from specialist areas (such as the high dependency unit) was also occasionally required in the time leading up to diagnosis. Where emergency presentation occurred, patients often reported symptoms indicative of advanced disease, including profoundly abnormal blood test results (e.g. suggestive of renal failure), fractured bones or severe infections (e.g. pneumonia). Few people were referred directly to haematology, and those who were tended to have an abnormal blood test result that was specific to myeloma (‘paraprotein spike’, ‘protein’, ‘Bence Jones positive’).

Those not referred directly to haematology described being sent to a range of specialities (Table 1), both initially and subsequently, as progress was made towards diagnosis. Referral speciality appeared to be determined by the patient’s symptoms or clinical problems; a number of referrals were made to gastroenterology/colorectal surgery (for endoscopy/colonoscopy), often in the context of anaemia with associated abdominal/bowel symptoms. Accounts suggest that in some situations cancer was suspected, but haematological malignancy was not, and this led to oncology referral. Occasionally, abnormal blood results were identified in secondary care, which resulted in patients being asked to return to hospital without a formal GP referral.

While some referrals occurred promptly, others did not appear to have been categorised as urgent and were associated with longer waits. In several instances, interviewees expedited events by requesting a private referral: ‘I rang the National Health up, to book an appointment, and the best I could do… was… October. So I thought, “Well, that’s no good”, so I thought, “Well, I’ll go private”. So… I tried (Private Hospital) and I got an appointment… the same week’ [P01]. On one occasion, a GP referral to the renal team resulted in a hospital appointment being issued, but then cancelled: ‘due to a clinical decision’ [P11].

On reaching secondary care, progress typically accelerated. Non-haematology specialists were frequently said to recognise the possibility of a haematological malignancy, conduct appropriate tests, and initiate urgent haematology referral: ‘I think she knew quite soon that these were all classic symptoms… despite that she’s not a haematologist’ [P11]. Reports about hospital care were positive; myeloma was generally identified quickly and treatment (if required) started within days/weeks of diagnosis.

Discussion

This is the first qualitative study seeking to understand experiences in the time leading to myeloma diagnosis, using in depth analysis of patient (and relative) accounts. It describes the health changes associated with myeloma onset, how symptoms were interpreted before help-seeking, and interactions with healthcare practitioners prior to secondary care referral and diagnosis. Our findings confirm the difficulties some people experience at this time, including vague but progressive symptoms, worsening debilitation/loss of function, multiple GP consultations and emergency presentations. Accounts suggest variation in the duration of the appraisal and diagnostic intervals, and an ongoing process of assessing health changes and seeking help.

The way in which myeloma presents undoubtedly contributes to diagnostic difficulties. Our study documents a wide range of symptoms, some of which are typically associated with myeloma, such as bone pain, fatigue, fractures [10], and others that are not, such as scalp swellings, later confirmed as soft tissue plasmacytomas. It also describes the progressive underperformance experienced by many, reflected in an inability to carry out activities considered ‘normal’ for that particular individual. Many symptoms were more indicative of benign and/or self-limiting conditions than myeloma, or any other cancer, an issue compounded by problems such as bone/joint pain being typically associated with the age-group in which myeloma most often occurs, yet rarely caused by this cancer.

Such difficulties appeared to contribute to the lack of cancer suspicion among not only GPs, but also patients themselves. Myeloma is considered a cancer that is ‘harder to suspect’ in the primary care setting, as it has low predictive values for both individual and combinations of common symptoms [24]. Despite this, GPs (whilst not expected to diagnose myeloma in primary care), are still faced with the task of differentiating abnormalities that may indicate cancer from those of non-malignant conditions and making appropriate, timely referrals to secondary care.

One of the main issues causing patients to delay seeking reappraisal of their symptoms was the plausibility of the GP’s initial diagnosis and the certainty with which this was communicated. This appeared to provide a ‘lens’ through which patients subsequently assessed new symptoms, and parallels findings from a study of cancer diagnosis after emergency presentation, which found interactions with health professionals could skew patients’ re-evaluation of symptoms, leading them to postpone further help-seeking [25].

Other reasons for delay in primary care included multiple consultations before the initial diagnosis was reappraised, late reappraisal and lack of investigation and follow-up–factors found to contribute to prolonged time to diagnosis in other cancers [26,27]. While this may appear concerning, however, multiple consultations do not always indicate sub-optimal management; they may occur due to symptom monitoring, primary-care led investigations, ‘safety-netting’ (i.e. post-investigation review and follow-up of symptoms not meeting the criteria for further action, but associated with an increased risk of cancer), or patient preferences [28–30].

Although this study was conducted in the UK, where healthcare is free at the point of access via the National Health Service, a number of interviewees discussed their use of private services. This occurred either to secure prompt access to assessment and investigation in secondary care, or to address frustrations arising from what was considered sub-optimal management of health changes in primary care. Whilst some had private health insurance to cover costs, others used their own resources to purchase services.

The myriad ways in which myeloma presents suggests there may be limited value in increasing patients’ and GPs’ knowledge of the range of potential symptoms. It may be more important to encourage patients to recognize what is normal for them, and seek help when a new change in their body is detected, or when they notice progressive deterioration in their ability to perform ‘usual’ activities. For GPs, pattern recognition is important, with deviation from expected, either in terms of behaviour (e.g. consultation frequency), or symptoms, indicating that investigation and/or referral may be needed; adequate ‘safety netting’ is also crucial.

Acknowledgments

We are grateful to the patients and relatives who took part in this study and shared their experiences with us. This study was funded by Cancer Research UK (National Awareness and Early Diagnosis Initiative): grant reference C38860/A13509; HMRN is funded by Bloodwise: grant reference 15037.