STEP 2: Presentation, initial investigations and referral

This step outlines the process for the general practitioner to initiate the right investigations and refer to the appropriate specialist in a timely manner. The types of investigations the general practitioner undertakes will depend on many factors, including access to diagnostic tests, the availability of medical specialists and patient preferences.

Some people with MDS are asymptomatic with no signs or symptoms identified with cytopenia on routine blood testing. The monitoring strategy includes excluding reversible causes and referral if they persist. Many people with MDS have a combination of symptoms. This is because the production of some or all of the blood cell types may be affected by the disease.
The following signs and symptoms should be investigated (Bewersdorf et al. 2020):

  • persistent tiredness and fatigue
  • weakness
  • shortness of breath with minimal exercise
  • looking pale
  • recurring infections, especially chest infections
  • fevers
  • sore mouth due to mouth ulcers
  • easy bruising
  • purpura – a rash of small red dots, seen often on the lower limbs initially, due to small superficial capillary bleeds known as petechiae
  • tendency to bleed from the nose and gums.

The presence of multiple signs and symptoms, particularly in combination with other underlying risk factors, indicates an increased risk of MDS.

Investigations should begin within days to a few weeks of detecting cytopenias, depending on the symptoms and acuteness of the presentation.

General practitioner examinations and investigations should include:

  • patient history and physical examination
  • blood tests to detect abnormalities and exclude other diagnoses – for example: full blood cell count and film review (Sekeres & Cutler 2014), reticulocyte counts, lactate dehydrogenase, autoimmune screen (ANA/ENA), blood group, B12/folate and iron studies, electrolytes, liver function, renal function, blood cell, haemolysis and thyroid function (where clinically appropriate) and serum electrophoresis serologies for chronic viral infections such as hepatitis C, hepatitis B and HIV.

The general practitioner should have results and review the patient within four weeks, or sooner if they are acutely unwell.

If the cancer diagnosis is confirmed or the results are inconsistent or indeterminate, the general practitioner must refer the patient to a specialist physician to make the diagnosis.

It is important to consider the patient’s overall health, including comorbidities and frailty. In certain circumstances if MDS is suspected and patients have mild cytopenias and significant comorbidities, they may be safely monitored by the general practitioner.

Patients should be enabled to make informed decisions about their choice of specialist and health service. General practitioners should make referrals in consultation with the patient after considering the clinical care needed, cost implications (see referral options and informed financial consent on page 9), waiting periods, location and facilities, including discussing the patient’s preference for health care through the public or the private system.

Referral for suspected or diagnosed MDS should include the following essential information to accurately triage and categorise the level of clinical urgency:

  • important psychosocial history and relevant medical history
  • family history, current symptoms, medications and allergies
  • results of current clinical investigations (imaging and pathology reports)
  • results of all prior relevant investigations
  • notification if an interpreter service is required.

The following clinical prioritisation criteria are used to triage patients with MDS. Urgent referral should occur within two weeks of initial work-up.
Any of the following indicators requires urgent referral:

  • severity of cytopenias – neutrophils < 0.5 × 10^9/L or neutrophils > 0.5 and recurrent infections needing antibiotics
  • platelets < 30 × 10^9/L or bleeding symptoms even if platelets are above threshold
  • symptomatic unexplained anaemia or haemoglobin < 80 g/L.

Many services will reject incomplete referrals, so it is important that referrals comply with all relevant health service criteria.
If access is via online referral, a lack of a hard copy should not delay referral.

The specialist should provide timely communication to the general practitioner about the consultation and should notify the general practitioner if the patient does not attend appointments.

Aboriginal and Torres Strait Islander patients will need a culturally appropriate referral. To view the optimal care pathway for Aboriginal and Torres Strait Islander people and the corresponding quick reference guide, visit the Cancer Australia website.

Download the consumer resources – Checking for cancer and Cancer from the Cancer Australia website.
For Aboriginal-led health information and services visit the NACCHO website.

Urgency of investigation depends on the severity of cytopenias and clinical presentation. In most cases this should occur within four weeks of receiving all initial tests. Urgent referral should occur within two weeks if listed indicators of concern are observed.

The patient’s general practitioner should consider an individualised supportive care assessment where appropriate to identify the needs of an individual, their carer and family. Refer to appropriate support services as required. See validated screening tools mentioned in Principle 4 ‘Supportive care’.

A number of specific needs may arise for patients at this time:

  • assistance for dealing with the emotional distress and/or anger of dealing with a potential cancer diagnosis, anxiety/depression, interpersonal problems and adjustment difficulties
  • management of physical symptoms
  • encouragement and support to increase levels of exercise (Cormie et al. 2018; Hayes et al. 2019).

For more information refer to the National Institute for Health and Care Excellence 2015 guidelines, Suspected cancer: recognition and referral.

For additional information on supportive care and needs that may arise for different population groups, see Appendices A, B and C.

The general practitioner is responsible for:

  • providing patients, and their families and carers with information that clearly describes to whom they are being referred, the reason for referral and the expected timeframes for appointments
  • requesting that patients notify them if the specialist has not been in contact within the expected timeframe
  • considering referral options for patients living rurally or remotely
  • supporting the patient while waiting for the specialist appointment (Cancer Council 13 11 20 and Leukaemia Foundation 1800 953 081 are available to act as a point of information and reassurance during the anxious period of awaiting further diagnostic information).

Patients can also visit the Leukaemia Foundation’s website  or call 1800 620 420 for emotional and practical support.

More information

Refer to Principle 6 ‘Communication’ for communication skills training programs and resources.