Symptoms and diagnosis of MDS

Medical examination

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Symptoms of MDS

Many MDS patients have no signs or symptoms and are diagnosed by chance after a routine blood test.  Most symptoms are caused by low blood counts and depend on which blood cells are affected.

Low red blood cells: Anaemia

  • Tiredness and fatigue
  • Palpitations
  • Pale skin colour
  • Shortness of breath

Low white blood cell count: Leucopenia

  • Frequent infections, which are difficult to treat. Infections can occur anywhere in the body and are usually caused by bacteria or fungi.

Low platelet count: Thrombocytopenia

  • Bleeding, often from the mouth or nose
  • Bruising or skin rash

About 8 out of 10 patients have anaemia, while about 2 in 10 have infections or bleeding. If all 3 types of cells are involved, it is called pancytopenia.

Diagnosing MDS

MDS can be difficult to diagnose. If your doctor is unsure, they may watch your blood counts for a few months, and the bone marrow test may then be repeated.

Low blood counts may be picked up by a simple test called a full blood count (FBC), which counts the number of red blood cells, platelets and white blood cells in the blood.

You will be referred to a blood specialist (haematologist), who will rule out other causes of low blood counts. 

After being diagnosed with MDS, you may have more tests to find out about your general health and about the type of MDS you have.

Tests include: 

  • Physical exam: A full physical exam will be done to assess your general health and to check for any signs of disease. 
  • Bone marrow tests: A sample of bone marrow (aspirate) or bone or solid marrow (trephine biopsy) is examined under a microscope to check for changes seen in MDS. The sample is usually taken from your hipbone. Other tests may be done on the bone marrow sample, including chromosome studies called cytogenetics. Read more about bone marrow tests.
  • Chromosome studies (cytogenetics): These examine the bone marrow samples for genetic changes which will help to confirm a MDS diagnosis and also to predict the course of the disease (prognosis). These chromosome changes only happen when the disease develops, so they cannot be passed on to your children. 

Other tests may be used to monitor your response to treatment. After being diagnosed, you will have regular blood testing to monitor your disease. Read more about cancer tests

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