Myelodysplastic Syndromes (MDS)
In this page
Imagine waking up after a good night’s sleep, but feeling as though you have not rested in days. You notice that a bruise from bumping into your coffee table weeks ago still looks fresh and stands out against your skin, which has become unusually pale. Throughout the day, simple actions, such as walking up and down a flight of stairs, seem as difficult as scaling a mountain. This is the life many with Myelodysplastic Syndromes (MDS) lead.
It is normal to feel scared as these symptoms emerge, but MDS is to some extent treatable. The first step to making your diagnosis less scary is to learn more about this incredibly rare disease.
Myelodysplastic Syndromes are a group of rare blood disorders that occur when the spongy tissue inside your bones, called bone marrow, begins to create blood cells incorrectly, making them unable to do their job properly. There are different kinds of blood cells that can be affected: red blood cells carry oxygen throughout your body, white blood cells help protect you from infections, and platelets help you heal from injuries. In most MDS cases, there will also be an unusual number of young blood cells, called blasts, which will never grow into mature blood cells.
Over time, the number of unhealthy blood cells becomes greater than the healthy ones, which can lead to one of six subtypes of MDS. The subtypes depend on which blood cells are affected, how they are incorrectly created, and how many of them are in the body.
The MDS subtypes are:
MDS with Single Lineage Dysplasia | MDS with Multilineage Dysplasia | MDS with Ring Sideroblasts | MDS Associated with Isolated Del (5q) | MDS with Excess Blasts | MDS, Unclassifiable |
|---|---|---|---|---|---|
MDS with Single Lineage Dysplasia Only one of the three blood cell types is printed abnormally. | MDS with Multilineage Dysplasia At least two, and perhaps all three, of the blood cell types are printed abnormally. This is the most common form of MDS. | MDS with Ring Sideroblasts There is an unusually low number of red blood cells, and young red blood cells are printed with an extra ring of iron around them. There are two subtypes within this group, depending on whether one blood cell type is affected or more. | MDS Associated with Isolated Del (5q) There is a significantly low number of red blood cells, as well as misprinted blood cells, caused by a mutation in your DNA. Red blood cell types are the most commonly affected. | MDS with Excess Blasts There are low counts of one or more of your blood cell types. The cells that are present may look abnormal, and there will be an unhealthy number of young blood cells in your bone marrow. | MDS, Unclassifiable This type of MDS does not fall under any of the previous categories. It will likely have low numbers of one of the blood cell types, and they will look abnormal. However, there is a normal number of young blood cells. |
What are the symptoms of Myelodysplastic Syndromes (MDS)
Early stages of MDS do not show any symptoms because the effects of these blood diseases need time for the unhealthy blood cells to reach a certain percentage of your blood cell count. However, as the number of young and unhealthy blood cells increase, and the number of healthy cells decrease, you may begin to experience an increasing number of symptoms associated with many blood diseases. These may include:
- Shortness of breath
- Fatigue
- Pale skin
- Easy bruising or bleeding
- Many small, flat dots under the skin
If you are experiencing these symptoms, your doctor may advise examining your blood cells to see if you have MDS. The most common tests for MDS are either a simple blood test or a bone marrow biopsy, where a small piece of bone marrow will be taken to examine.
How common are Myelodysplastic Syndromes (MDS)
As a collective, Myelodysplastic Syndromes are incredibly rare diseases, however, within this some subtypes are more common than others. In total, there are an estimated 87,000 new cases worldwide each year.
While certain subtypes of MDS have known causes — like a missing piece of DNA — doctors have not been able to find an exact cause for MDS as a whole. Over the years, medical professionals have identified risks they think make developing MDS more likely, including smoking or exposure to chemotherapy, certain chemicals, or some heavy metals.
Treatment and Care
The only cure for MDS is through aggressive treatment with chemotherapy followed by stem cell transplant using a donor, which is unfortunately not suitable for every patient. However, there are treatments that can slow down the disease’s progression and ease symptoms. There are three types of treatment for MDS patients — supportive care, drug therapy, and bone marrow transplant.
- Supportive Care: This type of treatment is meant to help control symptoms of the disease and ease the side effects of other treatments. This type of care includes blood transfusions and other treatments to increase the number of healthy blood cells in your body, and antibiotics to fight off any infections you may have.
- Drug Therapy: There are a few drug options available that target the unhealthy cells, giving more space for healthy cells to grow and multiply. These include certain chemotherapies used for Leukaemia, a disease closely related to MDS.
- Bone Marrow Transplant: Also called a stem cell transplant, this treatment involves taking donated bone marrow stem cells and using them to replace the unhealthy cells in your body. This is also combined with chemotherapy, which is used to clear out all the unhealthy cells from your body before transplanting the new cells.
Each of these treatment types come with their own risks and side effects. If you are not showing symptoms, your doctor may advise that you hold off on treatment, continue to have regular testing, and see if your MDS advances – also known as the watch-and-wait stage.
Caring for someone with Myelodysplastic Syndromes (MDS)
Whether symptoms have fully appeared, or the disease is in a wait-and-see stage, those diagnosed with MDS will likely be caught in a state of emotional limbo. They may be asking what the next few months may look like, let alone the next few years. When looking into invasive treatments such as transplants or chemotherapy, what will the recovery process be?
As a loved one, the best thing you can do is make sure they do not have to face these difficult times alone. Research and learn about this condition, perhaps look into available clinical trials or begin making an action plan for the long recovery process following a bone marrow biopsy. Sometimes, it can even be as simple as sitting quietly, holding a hand or offering an embrace, and just allowing your presence to be a comforting light in the surrounding shadows of uncertainty.
What to ask your doctor?
The list below includes example questions to help start a conversation with your health care provider. There may be other relevant questions based on your symptoms, stage, and medical history that are not listed here.
- What are the best treatment options for my kind of MDS?
- Can I develop more than one type of MDS?
- Can I pass my type of MDS onto my children?
- What are the side effects and recovery times for the treatment you’re suggesting?
- What clinical trials are available and how can I become eligible?
- How closely do I need to match with a bone marrow donor for a successful transplant?
- What other infections should I be concerned about?
- If I am asymptomatic, how often should I have my blood tested?
- What lifestyle choices can I make to increase my odds?
- Can my MDS develop into another type of blood disease?
- …
Janssen & Myelodysplastic Syndromes (MDS)
Janssen’s goal is to fundamentally alter the way MDS is understood, diagnosed and managed. We are committed to finding innovative ways to fight MDS, and our primary efforts focus on treatment and prevention solutions.
We are driven by our commitment to patients, working side-by-side with healthcare professionals, to offer solutions based on trust and transparency.
Glossary
- Blast: A young, immature blood cell.
- Anaemia: A condition where red blood cell counts are low.
- Bone Marrow: The spongy tissue inside your bones where blood cells are made.
- Complete Blood Counts (CBC): A type of blood test that can tell if the number of blood cell types in your body is low.
- Dysplasia: The abnormal shape of a cell.
Patient advocacy groups and external sources
This website is developed exclusively by Janssen Pharmaceutica NV. Please note that the patient advocacy groups, and external sources listed below are an additional and independent source of information you might find useful. These groups and sources were not involved in the creation of this website and do not endorse its content in any way.
The MDS Foundation is a global, non-profit organization comprised of medical professionals and advocates, supporting those with MDS through research, fundraising, and education.
AAMDS is a patient-focused organization working to inform patients about new research, and existing treatments, around MDS, as well as patient and family support networks.