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Myelodysplastic Syndrome - Diagnosis and Presentation

As the diagram indicate above, and from more reasons I will elaborate later, examination of bone marrow is a must in diagnosing this condition. There will be obvious discrepancy between what is seen in the bone marrow and peripheral blood, highlighting the point about abnormal maturation of the cells in the marrow which were ultimately not released into the circulation due to their defect. This also explains the main way the disease present, lack of blood cells in circulation, anaemia.

Anaemia in the elderly can appear as lethargy, low energy level, dizzy spells and palpitations. If the patient has underlying heart disease, they may experience chest pain and angina attacks, breathlessness due to heart failure, ankle oedema and if severe, even heart attack. In rare instances, patients may appear with autoimmune phenomenon, haemolysis, jaundice and enlarged spleen.

When it comes to blood tests, the patient may also develop low platelet count, and appearance of abnormal protein in circulation - paraproteinaemia. Under the microscope, the circulating red blood cells also appear abnormal - they may have abnormal markings and shapes. They may also have primitive cells in the peripheral blood, similar to patients with leukaemia - the so-called blast cells. These appearance may alert the Haematologist to investigate the patient further.

Other condition that may mimic MDS during presentation include aplastic anaemia, megaloblastic anaemia due to lack of vitamin B12, atypical CML and myelofibrosis.

During diagnosis, it is important to establish the subgroup of the disease the patient belongs to. Similar to patient with cancer, the first step of investigation is called staging. In MDS, conventional staging with CT scans in lymphoma and other solid organ cancer do not apply. Instead, to stratify patient into prognostic groups, we device some clever markers in the tests that patient go through during staging. This brings the discussion into MDS disgnosis and prognosis subgroups, two almost separate discussion. I will cover the diagnostic subgroup in this entry and leave the prognostic group for later. Why are these subgrouping important? By doing so, treatment plan will be easier. We can later lump the patient into treatment algorithm to give the best outcome depending on the subgroup the patient belongs. The subsequent prognostic discussion will also stem from these initial staging tests. We can then predict the probable outcome in the patient in terms of survival and chances of the disease turning into leukaemia.

The FAB ClassificationThe first idea for staging or classifying MDS came in 1982 with the introduction of the FAB (French-American-British) Classification. They proposed segregation into 5 distinct groups, depending on the percentage of blast in 1) bone marrow and 2) peripheral blood, 3) presence of Auer rods - a special marking inside the blast cells, 4) presence of monocyte in blood - a form of white blood cell, and 5) presence of special stain on the red blood cells - ring sideroblast. The subgroup is best illustrated by the chart below.

The FAB classification was soon realised to not reflect treatment outcomes as well as expected, and the WHO working group then proposed modification to the original FAB system. It looked  specifically at the clinical presentation in the patients, amount of bone marrow blast cells and cytogenetics of the patient.

The WHO ClassificationOnce the patient’s disease subgroup is identified, the treatment plan can then be discussed. This will be highlighted in the next entry.

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