Refractory Cytopaenia with Unilineage Dysplasia (MDS - RCUD)
RCUD constitutes about 10-20% of all cases of myelodysplastic syndrome (MDS). For many people, MDS can remain stable for many years causing few symptoms. For others it may progress rapidly into a different subtype of MDS or transform into an acute leukaemia.
What is RCUD?
RCUD constitutes about 10-20% of all cases of MDS and results in one of the following:
- Refractory anaemia: this is the most common type of RCUD. The cytopenia refers to a decrease in the number of circulating red cells resulting in anaemia
- Refractory neutropenia: the cytopenia refers to a decrease in a type of white blood cell called neutrophils. When these fall below normal limits, the patient is then considered ‘neutropenic’ and susceptible to infections
- Refractory thrombocytopenia: the cytopenia refers to a decrease in the number and quality of platelets, leaving the person susceptible to severe bruising and bleeding
What is the risk RCUD will transform to acute myeloid leukaemia (AML)?
MDS is classified as low risk, intermediate-1 and intermediate-2 or high risk according to the International Prognostic Scoring System (IPSS) at diagnosis. This system predicts the risk of your disease transforming into an acute leukaemia or your likely prognosis. The score is calculated based on the bone marrow blast (immature) cell count, number of blood cell types affected and number and type of genetic changes at a cellular level.
RCUD is classified as a low risk MDS, although complex chromosomal abnormalities in some people can increase their risk score to intermediate risk.
Signs that the disease may be progressing may include frequent infections, bleeding (e.g. from the nose or gums), bruising and the need for more frequent blood transfusions.
Do we know what causes MDS?
We do not know the cause of most cases of MDS. We do know however, that MDS occurs as a result of a gene mutation at a cellular level. Any incident that damages the genetic material of the body can potentially cause a mutation that in turn may contribute to the development of MDS. Examples of these incidents may include:
- Pre-existing bone marrow condition
- Cigarette smoking
- Cytotoxic chemotherapy
- Rare genetic or family history
MDS is not infectious and cannot be transmitted from one person to another.
Who does RCUD affect?
The majority of people diagnosed with this subtype of MDS are generally older with the average age being 65-70. However, MDS can occur at any age. There is no significant difference in incidence by gender.
How is RCUD treated?
RCUD is generally managed using the “watch and wait” approach with supportive care provided if or when required.
Watch and Wait involves regular monitoring of blood and general health. No intervention is needed unless the person begins developing signs and symptoms of the disease indicating it is progressing.
Supportive care refers to the administration of therapies to alleviate symptoms of the disease or to manage the side-effects of the therapies. Supportive care is aimed at improving the person’s quality of life and may even extend the person’s life. Supportive care therapies may include:
- Blood and platelet transfusions – MDS may lead to a reduction in the number of circulating blood cells. Transfusing blood products may be required to alleviate symptoms and to improve overall health.
- Antibiotics – people who have a reduced immune system from MDS may be at an increased risk of developing severe infection. Antibiotics can prevent a simple infection becoming life-threatening.
- Iron chelation therapy – red blood cells contain iron and when people with MDS require ongoing blood transfusions, they can build up excess iron in their bodies (iron overload) which can be damaging to body organs. Therapies may be administered that help remove the excess iron from the body.
Supportive care maybe the most appropriate treatment for older people or those with other health problems. This is mainly due to this group of people being unable to tolerate the stronger treatments used for MDS. Supportive care does not aim to treat the disease but can help alleviate symptoms such as shortness of breath and symptoms of bruising or bleeding.
The only therapy available in Australia for treating MDS, Azacitidine, has been shown to only be effective in people with Intermediate-2 and high risk MDS. Studies have shown that people with low risk and Intermediate–1 MDS, have better outcomes using the ‘Watch and Wait’ with supportive care strategy.
Is there a cure for RCUD?
For younger people, a stem cell transplant is an option and is the only known cure for MDS in a small number of people. Your doctor will discuss all treatment options suitable to your particular situation with you and your loved ones and gain your consent prior to the commencement of any treatment.
How do Clinical Trials help?
Treatments are being revised regularly as new research becomes available. Research in the laboratory opens the possibility for clinical trials in the hospital setting. This may give a person access to new treatments before otherwise available and approved by the government. Clinical trials have specific criteria to ensure the safety of the person from the new treatment; this then helps to ensure credible results. Through clinical trials, people can help others by contributing to medical research and future treatments.