What are the symptoms of Myelodysplastic Syndrome?

Myelodysplastic Syndromes may not cause any signs and symptoms in the initial stages. As the disease progress, patients may experience symptoms related to impaired function of the blood, such as:

• Difficulty in breathing.
• Persistent weakness and tiredness.
• A tendency for bruising or bleeding due to thrombocytopenia or a low blood platelet count. This may also present as small red spots just beneath the skin called petechiae.
• Unusual paleness of the skin due to anaemia or a low red blood cell count.
• Frequent infections due to a low white blood cell count.
  

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Does MDS cause weight loss?

Many patients with early or low-risk MDS may not have any symptoms, and the condition is sometimes found by blood tests done for other reasons.

However, many MDS patients may experience generalised symptoms, such as feeling tired or weak, losing weight without trying to, having a fever, getting black and blue marks or bleeding easily.

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How do you know if MDS is progressing?

With the progression of MDS, patients often develop symptoms directly related to the fall in blood counts. This often includes an increased frequency of infections, easy bruising or bleeding, and increased lethargy, with shortness of breath and sometimes weight loss.
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Is Myelodysplastic Syndrome a form of leukaemia?

MDS is considered to be a form of blood cancer. It consists of a group of different disorders of varying prognoses. Low-risk MDS patients may not require any treatment or may only require blood transfusions.

However, high-risk MDS patients often have a course of the disease which is aggressive, and while the condition is not leukaemia, many of these patients have a high risk of progression to frank leukaemia.

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How fast does MDS progress?

The rate of progression of MDS to leukaemia is related to the severity of the underlying MDS. This is determined by factors including the extent of abnormalities in the full blood count, the genetic (cytogenetic) profile of the MDS, the mutation profile of the MDS (on next-generation sequencing), and whether there are blasts present on the bone marrow assessment.

Prognostic scoring systems like the IPSS-R (International Prognostic Scoring System – Revised) help to determine a patient’s risk of progression to AML.

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Can you have MDS and not know?

As early stage MDS can be asymptomatic, it is possible to have MDS and be unaware. Patients in this situation are often only diagnosed after an incidental finding of low blood counts on a routine blood test.

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What is the most common complication of Myelodysplastic Syndromes?

Common complications of Myelodysplastic Syndromes are related to the suppression of the bone marrow. The symptoms include:

• Anaemia. Low red cell count, resulting in lack of energy, shortness of breath, and poor concentration.
• Bleeding and bruising due to a lower platelet count.
• Recurrent infections, having too few white blood cells increases your risk of serious infections.

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Can myelodysplasia be hereditary?

In the vast majority of cases, MDS is not inherited, meaning MDS is not passed from parent to child within a family.
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How do you get tested for MDS?

In order to test for Myelodysplastic Syndromes, our haematologists are likely to recommend blood tests and a bone marrow biopsy. The bone marrow assessment usually includes immunophenotyping, karyotyping, cytogenetic-FISH tests, and molecular testing.

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What are the stages of MDS?

The IPSS-R (International Prognostic Scoring System – Revised) is a scoring system that helps to classify MDS patients at diagnosis into 1 of 5 groups. Patients are categorised from very low risk to very high risk groups based on 1) their risk of transformation to acute myeloid leukaemia (AML) and 2) risk of mortality.

Overall, patients diagnosed with Myelodysplastic Syndromes have an average life expectancy which can range from 0.8 to 8.8 years. Patients with very low risk MDS tend to live for longer without the need for intervention. However, patients with very high risk MDS generally require treatment sooner and may have a shorter life expectancy.

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What is early stage MDS?

The IPSS-R (International Prognostic Scoring System – Revised) is a scoring system that helps to classify MDS patients at diagnosis into 1 of 5 groups. Patients are categorised from very low risk to very high risk groups based on 1) their risk of transformation to acute myeloid leukaemia (AML) and 2) risk of mortality.

Early-stage or low-risk MDS patients often have little or no symptoms from their MDS. Their blood counts may be lower than normal and they have a lower need for blood transfusion support.

Low-risk MDS patients usually have favourable or standard risk features on their bone marrow assessment for myeloblasts, cytogenetics and molecular mutations.

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What is considered high-risk MDS?

The IPSS-R (International Prognostic Scoring System – Revised) is a scoring system that helps to classify MDS patients at diagnosis into 1 of 5 groups. Patients are categorised from very low risk to very high risk groups based on 1) their risk of transformation to acute myeloid leukaemia (AML) and 2) risk of mortality.

Patients with high-risk MDS often have low blood counts and are symptomatic (lethargy, increased infections or bruising and bleeding).

High-risk patients will have an increased number of abnormal (myeloblast) cells in their bone marrow and often have poor risk features (such as high-risk cytogenetics or molecular mutations).

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Is Myelodysplastic Syndrome terminal?

Many forms of lower-risk MDS can be managed with supportive care and/or treatments, with patients maintaining a good quality of life.

For patients with higher-risk MDS, though, the condition has an increased risk of progression to acute leukaemia over time. As such, bone marrow transplantation is the only curative option.

There are drug therapies for patients who are not eligible for transplantation to treat the underlying high-risk MDS effectively. However, there remains a high risk of disease relapse and progression.

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Can MDS go into remission?

At present, an allogeneic haematopoietic stem cell transplantation is the only curative form of therapy for MDS.

There are other treatments to treat MDS, including a class of drugs known as hypomethylating agents (HMAs). These treatments have been shown to be effective in stabilising and, in some cases clearing the underlying MDS. However, drugs like HMAs need to be administered on a regular basis for durable remissions. In the majority of cases, the MDS will recur over time if the treatment is stopped.

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What is the difference between CMML and MDS?

Chronic Myelomonocytic Leukaemia (CML) is a rare form of blood cancer. Patients with this condition have features on bone marrow assessment that have characteristics of MDS and a myeloproliferative condition.

Patients will have a raised monocyte count, lowered blood count over time, and sometimes features of an enlarged spleen and/or liver.

Confirmation of the diagnosis of CMML is based on a bone marrow assessment, evaluating the bone marrow flow cytometry, cytogenetics, molecular profile, and the bone marrow trephine.

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How do you diagnose Myelodysplastic Syndrome?

In order to test for Myelodysplastic Syndromes, our haematologists are likely to recommend blood tests and a bone marrow biopsy. The bone marrow assessment usually includes immunophenotyping, karyotyping, cytogenetic-FISH tests, and molecular testing.

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Is MDS an autoimmune disease?

MDS is not considered to be an autoimmune disease. However, studies have indicated that MDS patients have a high association with autoimmune conditions such as rheumatoid arthritis, psoriasis, and immune thrombocytopenia.

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What is the life expectancy for someone diagnosed with MDS?

The prognosis of MDS is determined by several factors, including the risk category, the presence of other medical conditions, and age.

The IPSS-R (International Prognostic Scoring System – Revised) helps determine if a patient has low-risk or high-risk MDS. Patients with low risk MDS tend to live for longer without the need for intervention. However, patients with high risk MDS generally require treatment sooner and may have a shorter life expectancy.

The IPSS-R gives a general estimate of the time/risk of a patient to 1) develop acute myeloid leukaemia and 2) overall survival.

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Is Myelodysplastic Syndrome considered cancer?

Myelodysplastic Syndromes are considered to be a form of blood cancer.

However, based on the risk group of the MDS, not all patients with MDS will need immediate treatment.

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What happens when MDS turns into leukaemia?

MDS, particularly higher-risk forms, can transform into acute leukaemia.

This is characterised by an increase in abnormal myeloblasts (leukaemia cells) in the blood and bone marrow. Patients’ blood counts often fall at this stage, and patients are more likely to have frank symptoms related to acute myeloid leukaemia, such as increased infections and the need for blood transfusions.

In such cases, our haematologists will counsel you on the appropriate investigations and treatments required.

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Can MDS be misdiagnosed?

The diagnosis of MDS can sometimes be challenging, particularly in the early stages. It is thus important that patients with MDS are assessed appropriately by haematologists experienced in the management of the condition.

Our haematologists at CFCH will evaluate your medical condition with care and assist in providing a detailed medical treatment plan, including the most appropriate therapies.

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How do you know when MDS turns into AML?

The transformation of MDS to AML is characterised by an increase in abnormal myeloblasts (leukaemia cells) in the blood and bone marrow (to a level of >20% myeloblasts in the bone marrow). Patients’ blood counts often fall at this stage, and patients are more likely to have frank symptoms related to acute myeloid leukaemia, such as increased infections and the need for blood transfusions.

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How long can you live with Myelodysplastic Syndromes?

The prognosis of MDS is determined by several factors, including the risk category, the presence of other medical conditions, and age.

The IPSS-R (International Prognostic Scoring System – Revised) is a scoring system that helps to classify MDS patients at diagnosis into 1 of 5 groups. Patients are categorised from very low risk to very high risk groups based on 1) their risk of transformation to acute myeloid leukaemia (AML) and 2) risk of mortality.

Overall, patients diagnosed with Myelodysplastic Syndromes have an average life expectancy which can range from 0.8 to 8.8 years. Patients with very low risk MDS tend to live for longer without the need for intervention. However, patients with very high risk MDS generally require treatment sooner and may have a shorter life expectancy.

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Can Myelodysplastic Syndrome be cured?

The only curative form of treatment for MDS is an allogeneic haematopoietic stem cell transplantation (bone marrow transplant). However, not all MDS patients may be eligible for a transplant due to their age or other medical issues. 

For patients who are not suitable for a bone marrow transplantation, there are some medications which can help control the progression of the disease. If you have no symptoms, treatment might not be required immediately.

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What happens if MDS goes untreated?

For patients with intermediate to high risk MDS, the disease will gradually progress without treatment, eventually leading to acute leukaemia, a life-threatening condition.

Some patients with very low risk MDS, on the other hand, may not require treatment or may only require supportive care with blood transfusions.

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How is MDS treated in the elderly?

MDS is a disease of the elderly, and the incidence of MDS increases significantly above the age of 60.

The only curative therapy for MDS remains an allogeneic haematopoietic stem cell transplantation (bone marrow transplant). However, many older patients are often unsuitable candidates due to the high risk of the disease.

The treatment for MDS in older patients depends on the stage of the disease, your age, and your overall physical status.

• Supportive care, including blood transfusions and drugs to boost the blood counts
• Immunosuppressive or immunomodulating agents (usually for lower-risk MDS)
• Targeted chemotherapy drugs (usually for higher-risk MDS)
• Stem Cell Transplantation

Our haematologists at CFCH will discuss the MDS treatment options with you and your family to work out the best-tailored treatment plan for you.

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How often do MDS patients need blood transfusions?

Low-risk MDS patients may not require any blood transfusions, and some subtypes of MDS patients with anaemia may respond well to medications that stimulate the production of red cells. There are also targeted drugs that improve the underlying MDS and boost the red cell count.

If you require transfusions, the frequency will vary between patients; some need transfusions every few months while others need one every couple of weeks. Very often, once a patient has started having regular blood transfusions, the length of time between transfusions will gradually get shorter.

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What foods should be avoided with MDS?

There are no specific foods to avoid with MDS, and there is no evidence that any foods increase the risk of developing MDS.

However, MDS patients have a high risk of developing iron overload, so it is best to limit the intake of iron-rich foods if your doctor notices that your iron indices are elevated.

In addition, in patients with low white blood counts, it is important for patients to avoid raw or uncooked foods (such as sashimi or undercooked steak). Patients in these instances are also advised to avoid raw foods such as salads.

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How much does it cost to treat Myelodysplastic Syndrome?

The cost of treating Myelodysplastic Syndromes varies depending on the therapy required. This is dependent on the stage of MDS, the age of the patient and the extent of co-morbidities of the patient.

Some MDS patients may not need any treatment or supportive care, while others may require intensive chemotherapy and even an allogeneic haematopoietic stem cell transplantation.

Our doctors at CFCH will evaluate your medical condition and assist in providing a detailed medical treatment plan, including the estimates of treatment costs.

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Are there any new treatments for MDS?

At the present moment, an allogeneic haematopoietic stem cell transplantation is the only form of curative therapy for MDS.

However, other forms of less intensive therapies are available for MDS, which can often be effective in stabilising the condition and improving quality of life. There are newer directed therapies for MDS, such as the oral drug venetoclax, which has been used together with 5-azacitidine in the treatment of higher-risk MDS.

Our doctors at CFCH will evaluate your medical condition and assist in providing a detailed medical treatment plan, including the most appropriate therapies.

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Disclaimer:
The information on the Centre For Clinical Haematology website is intended for educational use.  It should not be considered or used as a substitute for medical advice, diagnosis or treatment from a qualified health professional.
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