What are the other Names for this Condition? (Also known as/Synonyms)

• Refractory Anemia due to Refractory Cytopenia with Unilineage Dysplasia
• Refractory Neutropenia due to Refractory Cytopenia with Unilineage Dysplasia
• Refractory Thrombocytopenia due to Refractory Cytopenia with Unilineage Dysplasia

What is Refractory Cytopenia with Unilineage Dysplasia? (Definition/Background Information)

• Refractory Cytopenia with Unilineage Dysplasia is a type of bone marrow disorder, called myelodysplastic syndrome (MDS)
• Myelodysplastic syndromes exhibit disordered (dysplastic) development of all non-lymphocyte blood cells (myeloid cells). MDS is caused by various abnormalities of the bone marrow
• Bone marrow is the spongy tissue found inside the bones. Normally, it is the main site of blood cell production (hematopoiesis). The blood cells include:
  • Red blood cells (erythrocytes), which transport ‘gases’, such as oxygen
  • White blood cells (leukocytes), important to the immune system
  • Megakaryocytes, which fragment to form platelets. Platelets clot blood and recruit collagen-producing cells (fibroblasts) to the scene of an injury
• These diverse cells develop from myeloid stem cells (blasts) inside the bone marrow. This process is mediated by different signals that steer the growth and division of the blasts, down different pathways (lineages)
• The different blood cells can thus be considered “cousins” of each other. This is because they share a common ancestral stem cell, though they have diverged down separate lineages
• The presence of any abnormalities in the blasts, or their signaling system, may disrupt their development and cause MDS. Different forms of myelodysplastic syndromes are classified, based on the cause or specific abnormalities produced
• Refractory Cytopenia is a deficiency in circulating blood cells that resists treatment. It is often treatable, only through blood transfusions
• Refractory Cytopenia with Unilineage Dysplasia (RCUD) is characterized by the abnormal development of one type of blood cell. This results from problems in one lineage; only one “cousin” is affected
• Depending on the lineage affected, different cell shortages may occur. If a problem occurs in the red blood cell pathway, a deficiency in red blood cells will occur. The same is true for white blood cells, and so on. Different symptoms are exhibited, depending on the particular lineage affected
• The prognosis of RCUD depends upon the severity of anemia and its response to treatment, which is usually with medication

Who gets Refractory Cytopenia with Unilineage Dysplasia? (Age and Sex Distribution)

Individuals at risk for Refractory Cytopenia with Unilineage Dysplasia include:

• Elderly individuals, aged 60 years and above
• Men are more prone to the condition, than women

What are the Risk Factors for Refractory Cytopenia with Unilineage Dysplasia? (Predisposing Factors)

The following factors may increase one’s susceptibility to Refractory Cytopenia with Unilineage Dysplasia:

• Smoking
• Exposure to radiation
• Exposure to certain industrial chemicals
• Chemotherapy

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Refractory Cytopenia with Unilineage Dysplasia? (Etiology)

• Refractory Cytopenia with Unilineage Dysplasia is caused by genetic mutations. These may include missing regions of DNA, such as with 5q-syndrome, or other unknown defects
• Regardless of the type of genetic abnormality, the problem is found in DNA regions that give instructions that are essential to proper blood cell maturation, inside the bone marrow
• The genetic mutations can result from improper pairing of DNA during conception. Mutations can also occur after exposure to DNA-damaging agents, such as radiation and chemotherapeutic drugs. This is called therapy-related myelodysplastic syndrome (t-MDS); such conditions are more serious

What are the Signs and Symptoms of Refractory Cytopenia with Unilineage Dysplasia?

Indicators for Refractory Cytopenia with Unilineage Dysplasia vary, depending on the affected cell line and the type of blood cell that is deficient.

Red blood cell deficiency (anemia) may cause: 

• Fatigue
• Pale appearance (pallor)
• Difficulty adapting to altitude changes

White blood cell deficiency (leukopenia) may cause:

• Frequent and persistent infections
• Increase in severity of a mild infection

Megakaryocyte and platelet deficiency (thrombocytopenia) may cause:

• Easy bruising
• Persistent bleeding

How is Refractory Cytopenia with Unilineage Dysplasia Diagnosed?

The following diagnostic tools may aid in identification of Refractory Cytopenia with Unilineage Dysplasia:

• Physical examination and evaluation of medical history
• Blood smear tests to detect:
  • Low levels of blood cells (cytopenia) of a single type
  • Abnormally-shaped blood cells of a single type
• Genetic studies of the relevant genes to detect abnormalities
• Bone morrow biopsy
• Flow cytometry analysis on bone marrow

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Refractory Cytopenia with Unilineage Dysplasia?

The following complications may arise from Refractory Cytopenia with Unilineage Dysplasia:

• Transformation of the condition to acute myeloid leukemia (AML); which has been known to occur in less than 5% of the cases
• Persistent bleeding, especially during surgery
• Infections

How is Refractory Cytopenia with Unilineage Dysplasia Treated?

Treatments for Refractory Cytopenia with Unilineage Dysplasia include:

• The use of immunosuppressive drugs to prevent progression to leukemia, such as:
  • Antithymocyte globulin
  • Cyclosporine
• Targeted molecular therapy drugs, such as:
  • Lenalidomide
  • Farnesyltransferase inhibitors
• Bone marrow transplant may be performed in younger patients

How can Refractory Cytopenia with Unilineage Dysplasia be Prevented?

Refractory Cytopenia with Unilineage Dysplasia may be avoided by:

• Limiting (exposure to) the following factors:
  • Radiation
  • Industrial chemicals
  • Chemotherapy
• Quitting smoking

What is the Prognosis of Refractory Cytopenia with Unilineage Dysplasia? (Outcomes/Resolutions)

• Refractory Cytopenia with Unilineage Dysplasia is considered a low-risk form of myelodysplastic syndrome (MDS). Generally, the prognosis varies according to severity of anemia and response to treatment.
• Proper care should be taken to treat and control complications from MDS. Often, the problems associated with infection, bleeding, and progression to leukemia, are the most dangerous aspects of the disease

Additional and Relevant Useful Information for Refractory Cytopenia with Unilineage Dysplasia:

Refractory Anemia with Unilineage Dysplasia accounts for about 10-20% of myelodysplastic syndrome cases.