How MDS is diagnosed and treated
Some people with MDS experience no symptoms and the condition is only picked up during a routine blood test. Others seek medical help due to symptoms such as excessive tiredness or unexplained bruising or bleeding.
The only potential cure for MDS is a stem cell or bone marrow transplant, but this is only an option for a small percentage of people with MDS, due to the severe risks involved in the procedure.
It is important to remember that people with lower risk forms of MDS may experience few, if any symptoms. When do they occur, supportive treatments can often provide relief and can improve QoL but they do not treat the underlying cause of the condition.
The treatment of MDS is constantly evolving. A number of new treatment approaches are currently under investigation and these have the potential to further improve the outlook for people with MDS.
+ How is MDS diagnosed?
A blood test (specifically, a full or complete blood count) is used to assess how many normal blood cells and immature blood cells are present. Other blood tests may be needed to check levels of vitamin B12, iron or folate.
If MDS (or another blood disorder) is suspected, a bone marrow test will be carried out to examine the contents of the bone marrow. This involves removing a small sample of liquid bone marrow, usually from the hip or pelvis, under local anaesthetic. This is known as bone marrow aspiration. A small piece of complete bone marrow may also be removed (this is known as a bone marrow trephine biopsy). The samples are then examined under a microscope. Bone marrow tests are usually carried out in the outpatient department of a hospital.
Cytogenetic tests may also be carried out. Cells are examined under a microscope to see if there are any abnormalities in the chromosomes (these contain genetic material inside the cells).
+ How is MDS treated?
It is important to remember that not all types of MDS need active treatment. People with low risk MDS may simply be monitored on a regular basis (preferably every six months as a minimum) and will otherwise be able to continue life as normal. This is called watch and wait or active monitoring.
For those who need treatment, the treatment plan will depend on the type of MDS, the risk of developing AML and the individual’s general health. The aim of treatment for lower risk types of MDS is to restore the balance of blood cells to more normal levels and to manage symptoms of anaemia. This is known as supportive care, and can include treatments such as blood transfusions and injections of growth factor drugs. Inevitably this will require frequent hospital visits, which can be inconvenient, but these supportive treatments can provide effective relief of symptoms and improve QoL.
+ Key treatment options for lower risk types of MDS
- Injections of growth factor drugs are used to increase the number of healthy red or white blood cells in some patients with MDS. These are similar to natural hormones that can stimulate the body to produce blood cells. Drugs such as erythropoietin (EPO) or G-CSF are commonly used. EPO injections are most effective for patients who are not yet receiving regular transfusions.
- Blood transfusions are used to increase red blood cells and reduce the symptoms of anaemia if other options such as growth factor drugs are not appropriate. The frequency of transfusions will vary from one patient to another. Regular blood transfusions can lead to a build-up of iron in the blood (iron overload), and some people with MDS already have a natural tendency to store high levels of iron even without transfusions. If untreated, this can lead to problems with the heart and liver, as well as increased levels of blood sugar, so chelation therapy is typically offered alongside blood transfusions.
- Chelation therapy may be offered to some patients to remove excess levels of iron from the body. The patient is given specific drugs which bind with the iron, which is then excreted from the body in the urine or faeces. Several different chelating agents are available and these are given either as an infusion (via a needle in the arm or via a pump attached to the body), or as tablets. Each form has advantages and disadvantages and the most suitable choice varies from patient to patient. Chelation therapy is not suitable for all patients with MDS.
- Platelet transfusions may be offered to patients who have suffered from or are at risk of bleeding.
- Antibiotics are used to treat infections if the white blood cell count is low. If patients suspect they have an infection, they should seek medical help via their hospital immediately, as they may need to be treated with intravenous (given via a vein) antibiotics. Oral antibiotics may not be sufficient, as they can take up to 3 days to start working.
- Injections of erythroid maturation agent (EMA) every few weeks help red blood cells ‘mature’ (or develop) to reduce anaemia and the need for regular blood transfusions. The first agent in this ‘new’ class of medicines for the treatment of anaemia was launched in late 2019 and approved for use in Europe in mid-2020.
+ Are there any new treatments on the horizon?
- New treatment options are currently being investigated in clinical trials throughout the world. These include combinations of new and existing therapies, targeted therapy that affects specific parts of cancer cells and the use of genetic testing to allow a more tailored approach to each patient’s treatment.
- A number of novel therapies are also being investigated. Silence Therapeutics is investigating gene ‘silencing’ therapies, which are designed to temporarily block a specific gene’s message that would otherwise trigger an unwanted effect. The aim is to produce a safe and tolerable treatment for anaemia and iron overload, which has the potential to improve QoL for low risk MDS patients.
+ Which healthcare professionals oversee the care of people with MDS?
People with MDS will usually be cared for by a haematologist (blood specialist) and their team. In higher risk cases, they may also be referred to an oncologist (specialist in cancer).
For people with low risk MDS, blood tests and monitoring may be carried out by their family doctor or GP.