Avoiding diagnostic delays in myeloma

An early diagnosis of myeloma has the potential to improve the prognosis and quality of life of the patient.

According to Myeloma UK, myeloma is the third most common blood cancer in the UK, with 5,700 patients being diagnosed each year. It accounts for 15% of blood cancers and 2% of cancers overall. The 2014 National Audit of Cancer Diagnosis (NCDA) found that of the most common 20 cancer sites, myeloma patients experience the longest primary care interval.

It's critical that GPs are able to recognise the early signs and symptoms of possible myeloma so they can be sure of making a timely diagnosis and appropriate secondary care referral. It should also be noted that the incidence of myeloma has increased by 17% over the last decade and it's predicted this increase will continue, making the diagnosis of myeloma in general practice more common.

An early diagnosis of myeloma has the potential to improve the prognosis and quality of life of the patient. Research shows early diagnosis via GP referral is associated with improved one year survival compared to emergency admission (88% vs 62% one year survival).

Delays in diagnosis are largely due to the vague and non-specific signs and symptoms that patients will generally present with to their GP. This results in multiple visits to the GP and, in some cases, diagnosis through emergency admission. According to Myeloma UK, a third of patients are diagnosed following emergency admission, often in the later stages of the disease with severe complications which can include acute kidney failure, vertebral fractures or severe infections.

MDU cases

Of 61 incidents reported to the MDU involving myeloma during a three year period from 2015 to 2018, a common cause of complaints and claims was an allegation of a missed or delayed diagnosis. A delayed diagnosis may lead to a worse prognosis and result in irreversible end organ damage. The findings from the incidents included:

  • the alleged delay in diagnosis from the time the patient presented ranged from one month to three years
  • the age ranges of the patients diagnosed with multiple myeloma ranged from 42 to 83 years
  • 72% of patients were male
  • nearly two thirds of the incidents (64%) related to complaints, with the other 36% being claims for clinical negligence. Of the complaint files, three were referred to the Parliamentary and Health Service Ombudsman and four involved the GMC
  • 76% of the cases related to patients seen in general practice. Other specialities included general surgery, haematology, radiology, endocrinology and general medicine.

The majority of cases involved patients presenting with pain, such as chest wall or lower back pain. The pain was often described as sharp or stabbing and patients generally presented on a number of occasions over a long time period. The initial differential diagnosis often included musculoskeletal pain.

Over time, patients were generally seen with additional symptoms such as paraesthesia, fatigue, weight loss and pain in other parts of the body, such as hip pain and vertebral collapse. During the course of investigations, patients were generally found to have a raised ESR and anaemia, which tended to lead to investigations for gastrointestinal malignancy.

In a small number of cases the delay in diagnosis was due to abnormal results not being followed up, or a failure to refer to secondary care based on an abnormal result. Patients were often seen by a number of different doctors for their ongoing symptoms, resulting in complaints about continuity of care.

Delayed diagnosis

Failure to diagnose myeloma is not necessarily negligent, but a claimant may have a case if they can show that a doctor's management fell below the expected standard - for example, by not actively considering the possibility of myeloma when a patient presents with typical signs or symptoms, particularly if these are ongoing or recurrent.

To help reduce the risk of delayed or missed myeloma diagnosis, we advise the following.

  • If you think you need further training in the diagnosis and referral pathway for myeloma, include this in your personal development plan and appraisal.
  • Read extra tips on how to recognise myeloma, such as the Myeloma UK myeloma diagnosis pathway and Macmillan ten top tips.
  • Be aware of the NICE guidance on the diagnosis and management of myeloma.
  • Make sure any patient consultations about non-specific signs and symptoms are clearly documented, including the history taken, length of time the patient has been experiencing the symptoms, the variation and pattern of symptoms, examination performed, the differential diagnosis and the management plan.
  • Take into account a patient's past history of similar symptoms if they later present with non-specific symptoms such as pain or fatigue. Consider whether a previous history of similar symptoms could be related.
  • Ask about family history of similar symptoms and significant illnesses (note: although there is a genetic link, this only increases the risk from eight patients per 100,000 in the general population, to sixteen patients per 100,000 for close family members).
  • Check the patient understands plans for follow-up and that these are also clearly documented.
  • Consider continuity of care and, where possible, ensure follow-up appointments are with the same doctor.
  • Where a referral has been made, particularly if it has been made urgently, it's advisable to have systems in place to check that an appointment follows, so no-one is lost in the system.
  • Your practice should also have a safe system for following up test results, including a process for responding to abnormal results and making sure these are communicated to patients.
  • Have a protocol for dealing with administrative tasks, such as dealing with messages to and from patients. Protocols are a helpful statement of the standard of care to be provided and a definition of responsibilities within the team.
  • Ensure the practice has a robust system, such as a significant event audit, for analysing patient safety incidents. This can highlight lessons that can be learned and what changes should be put in place to prevent a similar situation in the future.
  • Provide patients with an explanation and apology if something does go wrong, particularly if the outcome is poor or unexpected. Take steps to deal with the consequences and arrange appropriate treatment and follow-up. Also, contact the MDU for advice and support at the earliest opportunity.

Signs and symptoms of myeloma

While signs and symptoms are non-specific and could be related to any number of conditions or old age, myeloma is an important diagnosis to bear in mind. Myeloma can occur in younger patients, but it generally presents in those over 65 and is slightly more common in people of African descent and in men than women. There is also evidence that myeloma may have a genetic component with there being a slight tendency for it to occur in families, making the details of a patient's family history important.

Most of the symptoms associated with myeloma that result in patients visiting their GP are due to the build-up of abnormal plasma cells in the bone marrow and the presence of paraprotein and/or light chains in the body.

According to Myeloma UK, common symptoms and complications of myeloma can include the following.

Pain and bone fractures

This can arise in multiple places in the body where bone marrow is active, often the spine, pelvis, and rib cage and around the shoulders and hips. Hands and feet do not tend to be affected. Pain is often referred to as 'sharp', 'burning' or 'jabbing', and patients may also describe pins and needles and other altered sensations. Unexplained fractures can also occur.

Infection

Myeloma interferes with normal immune functioning and symptoms will obviously depend on the site of infection. Patients with myeloma are 10 times more likely to develop an infection than a healthy person and a diagnosis of myeloma should be considered particularly where a patient suffers from recurrent infections.

Fatigue

Persistent fatigue or overwhelming tiredness is a common feature in myeloma and can affect up to 70% of patients. This may be a complication of the myeloma itself or as a consequence of anaemia.

Kidney damage

This is a common complication of myeloma, with up to 20% of patients having some degree of kidney disease at the time of diagnosis and a further 40% developing kidney disease at some point during their diagnosis. The paraprotein and light chains associated with myeloma cause the damage to the kidneys by placing physical obstructions, and by toxicity to the kidney. This is exacerbated by inflammation. Other complications of myeloma such as hypercalcaemia can also contribute to kidney disease.

Peripheral neuropathy

Up to 14% of patients with myeloma are estimated to have symptoms of peripheral neuropathy at the time of diagnosis, and approximately 80% will develop some degree of peripheral neuropathy during the course of their diagnosis. This is thought to be caused by paraprotein being deposited on nerve tissue, and by damage to nerve cells. Patients may describe a number of different symptoms including unusual or altered sensation and increased sensitivity to touch, numbness and muscle weakness or cramps, or a lack of coordination or dexterity.

More information and educational resources for healthcare professionals can be found at the Myeloma UK website. Similarly, if you are interested in holding an educational event to raise awareness of myeloma, contact Myeloma UK.

Many thanks to Myeloma UK for their help with producing this article.

This guidance was correct at publication 18/09/2019. It is intended as general guidance for members only. If you are a member and need specific advice relating to your own circumstances, please contact one of our advisers.

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