Recognising the pattern before potentially avoidable organ damage develops
Dr Liri Seraj
“I had back pain for almost a year. Could my myeloma have been diagnosed earlier?”
I hear this question often after a new diagnosis of multiple myeloma. It is usually asked with a mixture of worry, frustration and the need to understand what happened. It is a reasonable question, but the answer is not always simple.
Multiple myeloma can be difficult to recognise at its first presentation because its early features are common and often non-specific. Back pain, tiredness, anaemia, recurrent infections and a modest rise in creatinine are seen far more often in conditions other than myeloma. A single symptom may not be enough to raise suspicion. What matters is the pattern: abnormalities that persist, progress, occur together or remain unexplained after appropriate assessment.
Why myeloma may be diagnosed late
Multiple myeloma is a malignancy of plasma cells, the antibody-producing cells found in the bone marrow. The abnormal plasma cells can suppress normal blood formation, produce a monoclonal protein, damage bone and impair kidney function. Some patients also develop hypercalcaemia or recurrent infections. Not every patient has all of these findings, and this variability is one reason diagnosis may be delayed.
In primary care, the first symptom is often something very ordinary. Back pain may initially appear mechanical. Anaemia may be attributed to iron deficiency. Renal impairment may be linked to diabetes, hypertension, dehydration or medication. In most patients, those common explanations will be correct. The difficulty is recognising when the expected explanation no longer fits.
Findings that deserve a second look
The following findings do not prove myeloma. They should, however, prompt further assessment when they are unexplained, persistent or present in combination:
- Anaemia without a clear cause, particularly when iron deficiency has not been demonstrated or when haemoglobin does not improve as expected after appropriate treatment.
- Persistent or progressive back, rib or bone pain, especially when it occurs at rest or at night, is focal, is associated with loss of height, or follows only minor trauma.
- Renal impairment that is new, progressive or not fully explained by the patient’s known conditions.
- A raised total protein or globulin level, or a low albumin-to-globulin ratio. A normal total protein does not exclude light-chain myeloma.
- Hypercalcaemia, recurrent infections, an unexplained high erythrocyte sedimentation rate, weight loss or marked fatigue when accompanied by other abnormal findings.
- Proteinuria that is difficult to explain. Routine urine dipsticks mainly detect albumin and may not identify free light chains.
The practical point is not to investigate every episode of back pain for myeloma. It is to review the whole clinical picture and to follow abnormalities that do not resolve. Trends are often more informative than one isolated blood test.
Which tests are useful?
When myeloma is clinically suspected, initial assessment usually includes a full blood count, renal function, calcium, albumin and total protein. Tests for a monoclonal protein should include serum protein electrophoresis, serum immunofixation and serum free light chains. Urine studies may also be required, depending on the presentation and local practice.
No single test should be interpreted in isolation. Serum protein electrophoresis alone can miss light-chain disease, while an abnormal free light-chain ratio may have causes other than myeloma, particularly in renal impairment. If the laboratory pattern or clinical presentation remains concerning, haematology review, appropriate imaging and bone marrow examination may be needed.
What about MGUS and smouldering myeloma?
Multiple myeloma develops through an earlier, asymptomatic precursor phase. The earliest recognised precursor is monoclonal gammopathy of undetermined significance, or MGUS. MGUS becomes more common with age, and most people with it will never develop myeloma. The average risk of progression is approximately 1% per year, although individual risk varies according to the type and quantity of monoclonal protein and the free light-chain ratio.
MGUS is not treated; it is monitored according to risk. Smouldering multiple myeloma is a separate condition with a higher risk of progression. Management depends strongly on risk. Active surveillance remains appropriate for many patients, while early treatment may now be considered for selected patients with high-risk smouldering myeloma, depending on local approvals and clinical practice. These decisions should be made in a specialist myeloma service.
This distinction matters when patients ask whether the disease could have been found years earlier. A monoclonal protein may have been present before symptoms developed, but earlier detection would not necessarily have meant immediate treatment. It may, however, have allowed risk-adapted monitoring and recognition of progression before organ damage occurred. In selected patients with high-risk smouldering myeloma, it may also allow consideration of earlier therapy.
Routine screening of the general population for MGUS or myeloma is not currently standard practice. Research is ongoing to determine whether targeted screening can improve outcomes without creating unnecessary investigations and anxiety.
Does diagnostic delay change the outcome?
Sometimes it can, although the relationship is not straightforward.
Disease biology also matters. Aggressive myeloma may cause substantial organ damage over a relatively short period, while more indolent disease may remain unrecognised for longer. Studies examining the relationship between diagnostic delay, disease severity and outcome have therefore produced a more complex picture than delay alone.
A delay does not necessarily mean that the biology of the myeloma or the planned anti-myeloma treatment would have been different. It can, however, allow complications to accumulate. Kidney injury may be only partly reversible. Vertebral collapse and other fractures can cause lasting pain and disability. Severe anaemia, infection, immobility and poor nutritional or functional status may make the beginning of treatment more difficult. In some patients, these complications can also affect functional status and the timing or feasibility of intensive treatment.
Earlier diagnosis therefore matters not because every short delay changes the disease itself, but because treatment should ideally begin before potentially preventable organ damage becomes established.
Was something missed?
A delayed diagnosis is not automatically evidence of poor care. Myeloma is uncommon, and its symptoms overlap with many benign conditions. At the same time, repeated abnormalities should not be repeatedly explained away without reassessment.
It is reasonable to ask for a review if anaemia, renal impairment, raised protein levels or persistent bone pain were present for months without a clear explanation, if results were not followed, or if the patient did not respond as expected to treatment for another presumed diagnosis. The aim of that review should be to understand the sequence of events accurately, not to reach a conclusion before the records have been examined.
Questions to ask after diagnosis
After a new diagnosis, I advise patients to ask their haematologist:
- Which findings established the diagnosis, and what are my stage and risk group?
- Which organs have been affected, and which changes are likely to improve with treatment?
- What is the goal of the proposed treatment, and how will response be measured?
- What supportive treatment do I need for bone health, kidney protection, infection prevention, pain or anaemia?
If you have not been diagnosed but recognise one or more of these features, do not assume that you have myeloma. Most back pain and most anaemia have other causes. Arrange a medical assessment when symptoms persist, when several abnormalities occur together, or when the initial explanation does not account for the full picture.
Myeloma is not always obvious at the first consultation. The practical lesson is not to suspect it in everyone, but to recognise the pattern and to investigate abnormalities that remain unexplained.
Medical Disclaimer
This article is intended for general educational and informational purposes only. It does not replace personalised medical advice, diagnosis or treatment from a qualified healthcare professional. Symptoms and laboratory findings should always be interpreted in the context of the individual patient. If you have persistent symptoms, abnormal test results or concerns about your health, please seek medical assessment from your doctor or haematologist.
References
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