Myelodysplastic syndrome (MDS)

Causes and who gets it

In MDS, the DNA of the stem cells in the bone marrow is damaged, and these cells cannot make healthy blood cells. In most people no clear cause is found.

Known risk factors are:

• Age: It mostly occurs after age 60, especially over 70; it is more common in men.
• Previous cancer treatment: Chemotherapy or radiotherapy can lead to MDS years later. This is called treatment-related (secondary) MDS.
• Chemicals and smoking: Working with benzene increases the risk; the Türk Hematoloji Derneği (Turkish Society of Hematology) notes that benzene is widely used in the paint industry and in shoemaking. Pesticides, some solvents and tobacco smoke are also among the risk factors.
• Inherited conditions and family history: some bone marrow diseases present from birth, such as Fanconi anemia, Down syndrome, and having family members who have had MDS or AML.

Having one of these factors does not mean you will get MDS. MDS is not contagious.

Symptoms

In its early stage MDS often causes no symptoms. It is often found on a routine complete blood count done for another reason. Symptoms usually start mild and increase slowly. Which symptoms you have depends on which blood cells are low:

• Low red blood cells (anemia): Tiredness, weakness, pale skin, shortness of breath and a pounding heartbeat with light activity
• Low white blood cells: Frequent infections, fever, recovering from illnesses more slowly than usual
• Low platelets: Bruising easily, nosebleeds or bleeding gums, heavier periods than usual, and pinpoint red-purple spots on the skin that do not fade when pressed (petechiae)

These symptoms also occur in many other illnesses; if they do not go away, see your doctor.

Diagnosis and tests

MDS is diagnosed with blood tests and an examination of the bone marrow. Your doctor will also ask about your medicines, your alcohol use and your work.

• Complete blood count (CBC): Shows low levels in one or more types of blood cells; the most common finding is anemia. The red blood cells are often larger than normal (a high MCV).
• Peripheral blood smear: Blood is stained and looked at under a microscope; the appearance of the cells may suggest MDS.
• Tests to rule out other causes: Vitamin B12, folate and iron levels; if needed, thyroid, liver, kidney, HIV and hepatitis tests. Vitamin B12 deficiency is the condition most often confused with MDS.
• Bone marrow aspiration and biopsy: Confirms the diagnosis. The area is numbed and a sample of marrow is taken with a needle, usually from the hip bone.
• Chromosome and gene tests: Done on the bone marrow sample; they help determine the type of MDS and how it is likely to behave.

These results are used to determine your risk group. The proportion of immature cells called blasts, how low your blood counts are and any chromosome changes are taken into account; a scoring system such as the IPSS-R may be used for this. Put simply, in low risk the disease usually progresses slowly; in high risk the chance of turning into AML is greater. Results may take a few weeks.

Treatment approach

Treatment is planned according to the type of MDS, the risk group, your symptoms, your age and your general health.

• Low risk and few symptoms: Regular check-ups and monitoring with blood counts are often enough.
• Supportive treatment: Red blood cell transfusions are given for anemia, and platelet transfusions for bleeding or when platelets are very low. Growth factors that stimulate blood cell production may reduce anemia; infections are treated with antibiotics. If frequent transfusions cause iron to build up, medicines that remove excess iron (iron chelation) may be used.
• Medicines for certain types: Medicines that suppress the immune system, or targeted medicines that reduce the need for transfusions, may be used.
• High risk: Hypomethylating medicines are among the first options. These medicines help genes involved in cell growth work more normally and may slow progression to AML. Some patients with a high blast proportion may be given intensive chemotherapy as in AML.
• Allogeneic stem cell transplant: The damaged stem cells are replaced with those from a donor. It is the only treatment that offers a chance of a lasting cure; however, because it can have serious side effects, it is not suitable for everyone.

If the disease cannot be cured, the goal is to ease symptoms and prolong life; a palliative care team also provides support during this time.

Everyday life and follow-up

When living with MDS, the most important things are protecting yourself from infection, keeping up with check-ups and reporting new symptoms early.

• Wash your hands often with soap and water, especially before eating.
• Stay away from sick people and crowded places as much as you can.
• Cook meat, fish and eggs well; wash raw vegetables and fruit thoroughly.
• Take care with mouth and tooth hygiene.
• Call your care team when you notice signs of infection, such as fever, shivering, cough, diarrhea or burning when you pass urine.
• If you have frequent transfusions, iron can build up in your body; your doctor may monitor this with tests such as ferritin, which shows your iron stores.
• Do not miss your follow-up blood counts; if you have a new or worsening symptom, report it without waiting for your next check-up.

In Türkiye

In Türkiye, MDS is followed by a hematologist. If your blood count shows a low level that is unexplained or does not go away, the doctor who first sees you may refer you to a hematologist. For diagnosis, the blood and bone marrow samples are assessed jointly by a hematologist, a pathologist and a genetics specialist. The public-facing pages of the Türk Hematoloji Derneği (Turkish Society of Hematology) offer information in Turkish on MDS and on preventing infection.

According to the Turkish Ministry of Health (Sağlık Bakanlığı) report on cancer statistics in Türkiye for 2022, an estimated 585 new MDS cases in men and 541 in women occurred in Türkiye in 2022. The rate rises markedly with age.

If a transplant is needed and there is no suitable donor in the family, an unrelated donor is first searched for in the national bone marrow bank of TÜRKÖK (the Turkish national stem cell coordination center) and, if none is found, in international registries.

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