Myelodysplastic syndromes

Myelodysplastic syndromes, also known as myelodysplasia, are a group of cancers that prevent your blood stem cells from maturing into healthy blood cells. Myelodysplasia is another name for myelodysplastic syndromes. Myelodysplastic syndromes are a group of disorders that can result in serious conditions like anemia, frequent infections, and bleeding that won’t stop.

MDS patients have an increased risk of developing acute myeloid leukaemia. If you have MDS, your healthcare providers will focus treatment on reducing the severity of your symptoms, treating conditions that are caused by MDS, and slowing the progression of the disease.

Types

The World Health Organization divides myelodysplastic syndromes into subtypes based on the type of blood cells — red cells, white cells, and platelets — involved.

Myelodysplastic syndrome subtypes include:

• Myelodysplastic syndromes with single-lineage dysplasia:  One blood cell type — white blood cells, red blood cells, or platelets is low in number and appears abnormal under the microscope.
• Myelodysplastic syndromes with multilineage dysplasia: In this subtype, two or three blood cell types are abnormal.
• Myelodysplastic syndromes with ring sideroblasts:  This subtype involves a low number of one or more blood cell types. A characteristic feature is that existing red blood cells in the bone marrow contain rings of excess iron.
• Myelodysplastic syndromes with isolated del(5q) chromosome abnormality:  People with this subtype have low numbers of red blood cells, and the cells have a specific mutation in their DNA.
• Myelodysplastic syndromes with excess blasts:  In this subtype, any of the three types of blood cells — red blood cells, white blood cells, or platelets — might be low and appear abnormal under a microscope. Very immature blood cells (blasts) are found in the blood and bone marrow.
• Myelodysplastic syndromes, unclassifiable:  In this subtype, there are reduced numbers of one or more types of mature blood cells, and the cells might look abnormal under the microscope. Occasionally the blood cells appear normal, but analysis might find that the cells have DNA changes that are associated with myelodysplastic syndromes.

• Incidence: MDS is more common in older adults, typically over the age of 60.
• Gender Prevalence: It is slightly more common in men than women.
• Geographical Variations: Higher incidence rates are observed in developed countries.
• Survival Rate: Prognosis varies based on risk factors, with survival ranging from months to years.

MDS may result from various factors, including:

• Genetic Mutations: Acquired mutations in hematopoietic stem cells.
• Environmental Exposure: Benzene, pesticides, or radiation exposure.
• Previous Cancer Treatments: Chemotherapy or radiation therapy.
• Inherited Disorders: Rare genetic syndromes can predispose individuals to MDS.

Common symptoms include:

• Fatigue and weakness
• Shortness of breath
• Pale skin (due to anemia)
• Easy bruising and bleeding
• Frequent infections

Providers take several steps to diagnose myelodysplastic syndromes, starting with blood and bone marrow tests. Here are some tests they may do:

• Complete blood count (CBC) with differential. Your provider will draw blood samples to analyze your red and white blood cells, including counting the number of each white blood cell type.
• Peripheral blood smear. They’ll check your blood sample for changes in the number, type, shape, and size of blood cells and if you have too much iron in your red blood cells.
• Cytogenetic analysis. Your provider may view your blood sample under a microscope, searching for changes in your blood cell chromosomes. Chromosomes are the parts of our cells that contain genes. Genes are made of DNA. Unusual chromosomes may mean something has affected your DNA, causing changes in your blood cell chromosomes.
• Bone marrow aspiration and biopsy. To do this procedure, your provider inserts a hollow needle into your hipbone to remove bone marrow, blood, and a small piece of bone for examination under a microscope.

The goal of treatment for myelodysplastic syndromes is typically to slow the progression of the disease, improve symptoms, and protect against complications. There is currently no treatment that can reverse the effects of myelodysplastic syndromes, but certain medications can help slow the disease’s progression.

It is possible that treatment is not required right away if there are no symptoms present. Instead, your doctor may suggest scheduling routine checkups and lab tests to keep track of your condition and determine whether or not the disease is progressing.

Ongoing investigation into myelodysplastic syndromes is being carried out. Talk to your primary care physician about participating in any clinical trials that might be appropriate for you.

Healthcare providers may use chemotherapy, immunosuppressive therapy or stem cell transplants to kill unhealthy blood cells. Here is information on those treatments:

• Chemotherapy: Healthcare providers may use the same chemotherapy that’s used to treat AML.
• Immunosuppressive therapy: Providers may use this treatment for certain MDS subtypes. Immunosuppressive therapy suppresses overactive immune systems and may help reduce the need for transfusions.
• Stem cell transplant: Myelodysplastic syndromes are only treatable through a procedure called a bone marrow transplant, which is also referred to as a stem cell transplant. This is the only treatment option that carries the possibility of curing the condition. However, because of the high likelihood of developing serious side effects, this treatment is typically reserved for patients who are in good enough health to withstand its effects.High doses of chemotherapy drugs are typically administered to patients undergoing a bone marrow transplant in order to eradicate any abnormal blood cells that may be present in their bone marrow. The damaged stem cells in the bone marrow are then exchanged for healthy cells that have been donated (allogeneic transplant).It is possible, in certain circumstances, to use chemotherapy drugs of a lower intensity in order to lessen the risks associated with bone marrow transplantation for elderly patients and other patients who would not normally be considered for this treatment.

These treatments have different side effects and complications. As you’re thinking about treatment options, ask your healthcare provider about each option’s side effects and complications.

While not all cases of MDS are preventable, reducing exposure to harmful chemicals, avoiding smoking, and monitoring for side effects of cancer treatments can reduce risk.

Prognosis is determined using the Revised International Prognostic Scoring System (IPSS-R). Factors include:

• Cytogenetic abnormalities
• Bone marrow blast percentage
• Blood cell counts

• Regular Monitoring: Routine blood tests and doctor visits.
• Managing Fatigue: Adequate rest and light exercise.
• Emotional Support: Counseling or support groups.

• Balanced Diet: Rich in fruits, vegetables, and lean proteins.
• Supplements: Discuss with a doctor before taking vitamins like folate or B12.
• Hydration: Maintain adequate fluid intake.
• Avoid Infection: Practice good hygiene and avoid sick individuals.

Emerging therapies include:

• Gene Editing: CRISPR technology is being explored to correct genetic defects.
• Immunotherapy: Chimeric antigen receptor (CAR) T-cell therapy for high-risk MDS.
• Novel Targeted Therapies: Investigational drugs targeting mutated genes like TP53.

• Patient Organizations: MDS Foundation and Leukemia & Lymphoma Society.
• Counseling Services: Psychological support and therapy.
• Financial Assistance: Non-profits offer aid for treatment costs.

China is conducting several clinical trials on novel treatments, including:

• CAR T-cell therapies for relapsed or refractory MDS
• New hypomethylating agents
• Investigational targeted therapies Patients can explore opportunities through the China Clinical Trials Registry (ChiCTR) or consult with oncologists.

• Coverage: Many insurance plans cover MDS treatments, but coverage varies.
• Reimbursement: Government programs may provide assistance.
• Second Opinions: Seek expert consultation for advanced therapies.