Myelodysplasia

Myelodysplasia affects the development of healthy blood cells in bone marrow.

What is myelodysplasia?

Myelodysplasia affects the growth and development of healthy blood cell formation in your bone marrow. You may also hear it referred to as myelodysplastic syndrome.
Myelodysplasia impacts the production of blood cells and restricts their development. Over time there are more defective blood cells than healthy blood cells, which can cause other symptoms and health conditions such as anaemia.

There are many different kinds of myelodysplasia classified according to the morphology (appearance) and cytogenetic changes of the bone marrow cells. These include:

  • Refractory anaemia
  • Refractory anaemia with ringed sideroblasts
  • Refractory cytopenia with multilineage dysphasia
  • Refractory cytopenia with multilineage dysphasia and ringed sideroblasts
  • Myelodysplastic syndrome with del(5q) chromosome
  • Myelodysplastic syndrome with excess blasts
  • Mixed myelodysplastic/myeloproliferative neoplasms

In some cases myelodysplasia can progress to leukaemia.

Diagnosis

Myelodysplasia is often suspected based on abnormal blood tests. The first step for diagnosis involves having a blood test which analyses the red blood cells, white blood cells and platelets in your blood, known as a full blood count (FBC) or a complete blood count (CBC). Examination of the blood film under a microscope by an experienced haematologist may reveal abnormalities in the morphology of the blood cells.

For people with myelodysplasia, the blood test may indicate low numbers of platelets and red blood cells (anaemia), and the presence of abnormal white blood cells and leukemic blast cells, which may also indicate leukaemia.

You will then need to have a bone marrow biopsy, which involves having a sample of bone marrow removed (usually from your hip bone). Analysis of the stem cells in the bone marrow, as well as the results from your blood test, confirms the diagnosis.

Treatments

Treatment for myelodysplasia depends on the type that you have, and your age, medical history and treatment preferences. Options include chemotherapy, stem cell transplantation, the ‘watch and wait’ method, supportive therapy, immunomodulatory drugs, and accessing new treatments not yet available to the public through clinical trials.

Frequently asked questions

What are the symptoms of myelodysplasia?

Myelodysplasia usually has no symptoms in the early stage. As the disease progresses, symptoms that may be experienced, depending on the type of myelodysplasia, include increased susceptibility to infections, chronic fatigue, shortness of breath, pale complexion, and increased frequency of bruising and bleeding.

What causes myelodysplasia?

In most cases there is no clear cause of myelodysplasia, however gene mutations and certain risk factors can play a role in the development of the disease. These include:

  • Frequent exposure to certain chemicals such as petroleum-based products
  • Having had chemotherapy or radiation therapy treatment
  • Having a congenital condition such as Down syndrome or Fanconi anaemia
Is myelodysplasia cancer?

On a microscopic level myelodysplasia can be formally defined as cancer as bone marrow changes at a genetic-molecular level, however, it acts more like a bone marrow disorder. It can progress into leukaemia which is a blood cancer.

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