This article has been reviewed and approved by Dr Niti Raizada for authenticity and medical correctness on 20 Jun 2020

All about Myelodysplastic Syndrome

Myelodysplastic syndromes(MDS) are a group of blood disorders where you have fewer healthy blood cells in your body. You will have fewer red blood cells, white blood cells, and blood platelets.

It occurs due to problems with the production of healthy blood cells in the bone marrow. The blood cells that form in the bone marrow are defective and have a shorter lifespan than normal. The exact cause is not clear. Changes in the DNA that control the ways the blood cells mature and survive may be the reason.

Your risk of MDS increases with age, as it is more common in those above the age of seventy. Men are twice more likely to have the disease than women.

Your symptoms occur due to a decrease in the levels of healthy blood cells in the circulating blood. Fatigue, anemia, recurrent infections, bleeding issues are common signs and symptoms. The symptoms get worse when the defective blood cells overtake the numbers of healthy ones by far.

Blood tests or a bone marrow biopsy will help to detect the disease. 

Treatments aim to control the symptoms and reduce complications. Medicines will help to stimulate the bone marrow to produces more healthy blood cells, to improve their lifespan and to treat any infections. You will need blood transfusions if there is a drastic fall in the number of healthy bone cells. Bone marrow transplant will be helpful in those with severe complications. 

What causes MDS?

Your bone marrow is a spongy tissue present inside the bones. It produces stem cells that can develop into red blood cells, white blood cells, and platelets according to the body's need. 

If you have MDS, there will be problems with the way the stem cells develop into various blood cells. It could be due to a change in the DNA of the stem cells that carries information regarding cell development, maturation, and lifespan. The result is the formation of defective blood cells that cannot function effectively. Also, these cells die earlier than usual. Over time, you will have more defective blood cells in your body than healthy blood cells.  

Risk factors of myelodysplastic syndrome

Some of the common risk factors for MDS are 

  • Increasing age- Your risk is more if you are sixty or above
  • History of cancer treatment- If you had chemotherapy and radiation earlier, your risk is more. The disease usually occurs six to eight years after these treatments
  • Having a family history of MDS- If you have a parent or sibling with the disease, you are at higher risk
  • Smoking- Your risk is more if you smoke
  • Exposure to chemicals- If you have exposure to chemicals like benzene as part of your job, you are at risk 

Symptoms of MDS

Your symptoms occur due to a decrease in the number of different blood cells. Also, your symptoms will depend on the type of blood cell that is less.

Low red blood cell counts

If you have a lesser number of red blood cells, your symptoms will include;

  • Feeling tired without reason- You may feel tired all the time, and taking rest or sleeping will not help improve it. It will also make you mentally and emotionally very weak. 
  • Paleness of the skin- You will look pale due to fewer red blood cells that give blood its color
  • Feeling less hungry- Since you are tired all the time, you will not have a mood to eat as usual. Since you eat less, you will not get enough nutrients for your body to function properly. It thus makes you feel more tired.
  • Losing weight without trying
  • Breathing problems- Since your hemoglobin levels are low, there is less oxygen in the blood. Your lungs try to make up for it by making you breathe faster and harder than normal.
  • Rapid heartbeats occur when your heart tries to pump more to increase the oxygen levels in the blood

Low platelet counts

You should have adequate numbers of platelets in your blood for it to clot when necessary. Also, low numbers of platelets will make your blood thinner than usual. The symptoms due to low platelet counts include

  • Severe bleeding for longer periods from minor injuries- If you have a cut or a bruise in your body, the bleeding will usually stop in two to three minutes. But low numbers of platelets will make the bleeding severe and last much longer.
  • Bleeding from the nose, gums, etc. without reason- You may have nosebleeds without any reason. Similarly, your gums may bleed during brushing. These happen because of the rupture of small blood vessels in the nose and the gums.
  • Heavy bleeding during periods- You will bleed more than usual during your periods. Also, the periods will last for more days.
  • Bleeding spots under the skin- You will have several bleeding spots all over your skin.

Low white blood cells

White blood cells help you to fight infections. If there is a decrease in their numbers, your body will lose its ability to keep bacterias, viruses, fungi, etc. away. Naturally, you will have more infections than normal. Whenever you pick up an infection, you will also start having fever as well.

You may have 

  • Lung infections that make breathing difficult
  • Repeated urinary infections
  • Mouth sores due to fungal infections 
  • Skin infections

 

As the numbers of white blood cells go further down, there will be a rise in the number and severity of infections.

Types of MDS

If you do not have any risk factors of MDS and you still have the disease, you have primary MDS. If you have MDS as a result of previous chemotherapy or radiation, you have secondary MDS.

There are six common types of MDS. These types differ in various factors. It includes the type of affected blood cells, the number of immature blast cells, changes in the structure of chromosomes, etc.

Diagnosis of MDS

If you have any symptoms pointing to MDS, your doctor will make you do some tests to confirm it.

Blood tests- It gives a clear picture of the blood cells in your body. The blood sample may have many immature blood cells called 'blast cells' in people with MDS.

Normal blood will not have any blast cells as these are present only in the bone marrow. The presence of blast cells in blood points to a problem with the bone marrow.

Also, most of the blood cells in the sample will have an abnormal shape, size, etc.

Bone marrow tests

You will have bone marrow tests to confirm an MDS. Your pathologist will take the bone marrow sample with the help of a small needle. The doctor will insert the needle into the bone and draw a bone marrow sample.

In a bone marrow biopsy, the doctor will insert a larger needle and extract a bigger sample. 

The bone marrow of a person with MDS will reveal more 'blast cells' than usual during an examination under a microscope.

Molecular testing- to look for genetic anomalies that point towards MDS. Also guides in treatment.

Treatments for MDS

Watchful waiting

If your symptoms are mild and your blood counts are fine, you will not have any active treatment. Your doctor will see you periodically to assess your symptoms. You will also have periodic blood tests to know your blood cell counts. Once you start having symptoms or your blood cell counts decrease beyond a point, your treatments will begin.

Supportive care

It aims to control your symptoms and thereby improve your quality of life. Most of your symptoms occur due to a decrease in the number of different blood cells. With supportive care to increase the number of healthy blood cells, your symptoms start to get mild.

Blood transfusions-Once your red blood cell count decreases, there will be problems with the transport of oxygen. You will feel tired or have fatigue. A decrease in the number of blood platelets can increase your risk of bleeding. The lower number of white blood cells increases your risk of infections.

You will have blood transfusions packed with red blood cells, platelets, or plasma, depending on which cells are less in number. By having the necessary blood transfusions, your blood cell numbers will increase. It thus leads to an improvement in the symptoms.

Frequent red blood cell transfusions will cause an 'iron overload' in your body. You will need to take medicines to remove the excess iron from your body and prevent any complications. 

Medicines to increase blood cell counts- You will also have some medicines that help to improve the number of blood cells in your body. These medicines or 'growth factors' will act on your bone marrow and produce more amounts of healthy blood cells. Medications also help healthy blood cells to grow and survive usually.

Antibiotics- You will have to take antibiotics to treat any infections that you may get. Also, having these before minor surgeries can help to prevent infections after it. 

Bone marrow transplant for MDS

You have MDS because of problems in the stem cells that develop from the bone marrow. Destroying your diseased stem cells and replacing them with healthy stem cells can solve the problem. A stem cell or a bone marrow transplant does precisely that.

Before the transplant, you will have high doses of chemotherapy and radiation treatment to destroy your diseased bone marrow. Once your marrow space is empty, you will have a stem cell transplant. 

During the transplant, your transplant surgeon will infuse healthy bone marrow or stem cells into your blood. You will have the infusion through a large vein in the chest. Once in your blood, the stem cells or bone marrow will move into the marrow space without any guidance. It will then attach there and will start producing healthy stem cells.

There are two types of bone marrow transplants.

In an allogenic transplant, you will receive bone marrow from a healthy donor.

In an autologous transplant, your doctor will source healthy stem cells from your body. The doctor will then transplant these healthy stem cells, not your blood, after destroying the diseased stem cells.  

Chemotherapy

You will not have chemotherapy as a regular treatment for MDS. You will have it before a bone marrow transplant to destroy the diseased bone marrow. You will also have the procedure if your MDS shows signs of changing into acute myeloid leukemia(AML). Your treatment will be the same as that for AML.

Remission from MDS

Remission is a phase where you do not have any symptoms of a disease. It does not mean that the disease has completely gone away. You will have a few diseased cells still present in the body. But their number will be so small that you will not have any problems due to it. The longer the remission phase lesser will be the chances that the disease will come back.

Prognosis

Almost one in three persons with MDS will go on to have AML. Your survival will depend on the stage and type of MDS. Some types of MDS are more severe and progress rapidly.

Myelodysplastic syndrome(MDS) treatment in India
Myelodysplastic syndrome(MDS) treatment in India

References / Additional Reading
This article has been reviewed by Dr Niti Raizada for authenticity and medical correctness on 20 Jun 2020
Dr Niti Raizada
Dr Niti Raizada
MBBS, MD, DM-Medical Oncology, MRCP
Dr. Niti Raizada is a senior Medical Oncologist with over fifteen years of experience in the field. Dr Niti has special interests in the areas of Thoracic, Gastrointestinal, Breast, Gynaecological Oncology, and Bone Marrow Transplants. She did her MBBS at Gandhi Medical College, Bhopal; MD-General Medicine at G R Medical College, Gwalior, DNB-General Medicine from National Board Of Examination,DM from Adyar Cancer Institute Chennai and Fellowship in Hematology from Hammersmith Hospital and Imperial College,London. She is a member of American Society of Clinical Oncology,USA; Royal College of Physicians,Edinburgh,UK; Member of Pharmacy Committee,Member of DNB teaching program in Medical Oncology and European Society of Medical Oncology (ESMO).
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