Myelodysplastic Syndromes World Awareness Day is observed on October 25th each year to raise awareness about myelodysplastic syndromes (MDS). A group of rare blood disorders that affect the bone marrow and blood. Uhapo Health Services goal on this awareness day is to educate people about MDS, support patients and their families, and promote research into better treatments for a potential cure.
Myelodysplastic Syndrome: Symptoms, Causes & Diagnosis
Myelodysplastic syndromes (MDS) are a group of rare blood disorders characterized by abnormalities in the bone marrow’s ability to produce healthy blood cells. There are various subtypes of MDS, but they share common symptoms, potential causes, and methods of diagnosis. Here’s an overview of MDS symptoms, causes, and diagnosis –
Symptoms of Myelodysplastic Syndromes (MDS) –
- Fatigue – Anemia is a common symptom of MDS, leading to fatigue and weakness.
- Shortness of Breath – Reduced red blood cell production can result in decreased oxygen transport, causing shortness of breath.
- Easy Bruising – Low platelet counts may lead to easy bruising and bleeding.
- Pale Skin – Anemia can cause paleness of the skin.
- Bleeding – In addition to bruising, MDS can lead to nosebleeds and gum bleeding.
- Enlarged Spleen – Some people with MDS may develop an enlarged spleen (splenomegaly).
- Petechiae – Tiny red spots on the skin due to bleeding under the skin.
- Bone Pain – This may occur due to an increased number of abnormal blood cells in the bone marrow.
Causes of Myelodysplastic Syndromes (MDS) –
The exact causes of MDS are often unknown, but several factors may contribute to its development, including –
- Aging – MDS is more common in older adults, and age-related genetic changes are believed to play a role.
- Genetic Mutations – Some individuals may have genetic mutations that increase their risk of developing MDS.
- Exposure to Environmental Toxins – Exposure to certain chemicals, radiation, or chemotherapy treatments in the past can increase the risk of MDS.
- Previous Cancer Treatments – Individuals who have undergone treatments such as radiation therapy or chemotherapy for other cancers may be at higher risk.
Diagnosis of Myelodysplastic Syndromes (MDS) –
Diagnosing MDS typically involves a combination of medical history, physical examination, and specific tests, including –
- Blood Tests – Blood counts, such as a complete blood count (CBC), can reveal abnormalities in red blood cells, white blood cells, and platelets.
- Bone Marrow Biopsy – This is a critical test for MDS diagnosis. A small sample of bone marrow is extracted from the hip bone and examined under a microscope to determine the percentage of abnormal cells and their characteristics.
- Cytogenetic Analysis – This test analyzes the chromosomes in the bone marrow cells to identify specific genetic abnormalities.
- Flow Cytometry – It helps characterize the surface markers of blood cells and identify abnormal cell populations.
- Genetic Testing – This can identify specific genetic mutations associated with MDS.
Once a diagnosis of MDS is confirmed, further tests may be conducted to determine the subtype and severity of the condition. The treatment plan can then be tailored to the individual’s specific circumstances.
Types & Stages of Myelodysplastic Syndrome
Myelodysplastic syndromes (MDS) are a group of hematological disorders that can be classified into several subtypes and stages based on the characteristics of the bone marrow, blood cell counts, and other factors. The World Health Organization (WHO) and the International Prognostic Scoring System (IPSS) are commonly used to categorize and stage MDS. Here’s an overview of the main MDS subtypes and stages –
Types of Myelodysplastic Syndrome (MDS)
- Refractory Anemia (RA) – This subtype is characterized by low red blood cell counts. RA patients have anemia but relatively normal white blood cell and platelet counts.
- Refractory Anemia with Ring Sideroblasts (RARS) – In RARS, the bone marrow contains an excess of ring sideroblasts, a specific type of abnormal red blood cell precursor. Anemia is a common feature.
- Refractory Anemia with Excess Blasts (RAEB) – RAEB is characterized by the presence of an increased number of immature blood cell precursors (blast cells) in the bone marrow.
- Refractory Anemia with Excess Blasts-1 (RAEB-1) – In this subtype, blast cells make up 5-9% of the bone marrow cellularity.
- Refractory Anemia with Excess Blasts-2 (RAEB-2) – In RAEB-2, blast cells account for 10-19% of the bone marrow cellularity.
- Chronic Myelomonocytic Leukemia (CMML) – CMML is considered a hybrid disorder, with features of both MDS and myeloproliferative neoplasms (MPN). It is characterized by elevated monocyte counts and may involve an increase in white blood cells, red blood cells, or platelets.
- Myelodysplastic Syndrome with Isolated Del(5q) – This subtype is characterized by the deletion of a portion of chromosome 5 (del(5q)) in bone marrow cells. It is associated with a specific set of clinical and laboratory features and has a relatively favorable prognosis.
Stages of Myelodysplastic Syndrome (IPSS-R)
The Revised International Prognostic Scoring System (IPSS-R) is commonly used to categorize MDS into risk groups, which can help determine the prognosis and guide treatment decisions. The IPSS-R divides MDS into the following risk groups –
- Very Low-Risk
- Intermediate Risk
- High Risk
- Very High Risk
The IPSS-R takes into account factors such as the percentage of blast cells in the bone marrow, cytogenetic abnormalities, and the severity of cytopenias (low blood cell counts). The risk group assigned to a patient helps in determining the appropriate treatment and provides an estimate of life expectancy.
Myelodysplastic Syndrome Treatment
Treatment for myelodysplastic syndrome (MDS) is highly individualized and depends on several factors, including the subtype of MDS, the severity of the disease, the patient’s age and overall health, and the presence of specific genetic mutations or chromosomal abnormalities. Here are some common treatment approaches for MDS –
- Blood Transfusions – Transfusions of red blood cells and platelets are often used to manage anemia and low platelet counts.
- Erythropoiesis – Stimulating Agents (ESAs): These drugs stimulate the production of red blood cells in the bone marrow and can be used in patients with certain subtypes of MDS.
- Growth Factors – Granulocyte colony-stimulating factors (G-CSF) or granulocyte-macrophage colony-stimulating factors (GM-CSF) may be used to boost white blood cell production.
- Antibiotics – To prevent and treat infections, which are more common in MDS patients with low white blood cell counts.
- Azacitidine and decitabine are drugs used to treat high-risk MDS and AML. They can help some patients by slowing disease progression and potentially delaying the transformation to AML.
- Chemotherapy regimens, similar to those used for AML, may be considered for higher-risk MDS patients.
Stem Cell Transplantation
- Allogeneic stem cell transplantation, also known as a bone marrow transplant, is the only potentially curative treatment for MDS. It is typically considered for younger, healthier patients with high-risk MDS.
- Lenalidomide, a medication that affects the immune system and bone marrow, is used specifically for the treatment of MDS with isolated del(5q) chromosomal abnormalities.
- In some cases, MDS may be associated with an overactive immune system. Immunosuppressive therapy with drugs like antithymocyte globulin (ATG) and cyclosporine may be considered.
The treatment approach may change over time as the disease progresses or responds to treatment. Additionally, regular monitoring and follow-up appointments are crucial to assess treatment effectiveness by adjusting the plan as per specific needs.