A correct diagnosis is essential to getting the right treatment - a complicated problem for a rare disease for which there is no single test. Because doctors see so few MDS cases, they need to conduct a variety of tests to determine what the patient’s disease is and is not.
Doing a Medical History
To understand what is causing your symptoms and low blood counts, your doctor will start with a detailed medical history. Your doctor may ask:
- What are your symptoms?
- Have you been exposed to harmful chemicals, such as benzene benzene: A chemical that is widely used by the chemical industry in the United States to make plastics, resins, nylon and synthetic fibers. Benzene is found in tobacco smoke, vehicle emissions, and gasoline fumes. Exposure to benzene may increase the risk of developing a bone marrow failure disease. Benzene… ?
- Are you or were you ever a smoker?
- Have you had chemotherapy chemotherapy: (kee-moe-THER-uh-pee) The use of medicines that kill cells (cytotoxic agents). People with high-risk or intermediate-2 risk myelodysplastic syndrome (MDS) may be given chemotherapy to kill bone marrow cells that have an abnormal size, shape, or look. Chemotherapy hurts healthy cells along with… or radiation treatments?
Providing your doctor with a detailed health history helps your doctor give you an accurate diagnosis.
Blood Tests
Doctors conduct several types of tests to help them create treatment plans for MDS patients. Blood test results and lab reports are something every patient should learn how to read.
Complete Blood Count (CBC)
One key test is a complete blood count (CBC) complete blood count (CBC): A group of tests performed on a small amount of blood. The CBC measures the number of each blood cell type, the size of the red blood cells, the total amount of hemoglobin, and the fraction of the blood made up of red blood cells. Also called a CBC. . It uses a number of methods to measure how many of each blood cell type are in your blood sample. If the CBC shows a low number of red blood cells, white blood cells or platelets, your doctor may also do a blood smear test, which means examining your cells under a microscope.
Getting a CBC on a regular basis is important for MDS patients. It allows doctors to monitor blood counts over time and compare them with previous results. Based on this record, doctors can determine a patient’s progress and refine treatment plans accordingly.
Iron level
If you have anemia anemia: (uh-NEE-mee-uh) A condition in which there is a shortage of red blood cells in the bloodstream. This causes a low red blood cell count. Symptoms of anemia are fatigue and tiredness. , your doctor may also check the level of iron in your blood. If a shortage of iron is causing anemia, it can be easily treated with iron supplements.
In some cases, blood tests may show that you have too much iron in your body. This is called iron overload iron overload: A condition that occurs when too much iron accumulates in the body. Bone marrow failure disease patients who need regular red blood cell transfusions are at risk for iron overload. Organ damage can occur if iron overload is not treated. . It can be caused by genetic conditions, or from getting lots of red blood cell red blood cell: The most numerous type of blood cell in healthy people. Red blood cells contain hemoglobin, a protein that picks up oxygen in the lungs and brings it to cells in all parts of the body. Also called erythrocyte, RBC. transfusions. There are a number of treatments that can remove iron from your body.
EPO level
EPO, or erythropoietin erythropoietin: (i-rith-row-POY-uh-tun) A protein made by the kidneys. Erythropoietin, also called EPO, is created in response to low oxygen levels in the body (anemia). EPO causes the bone marrow to make more red blood cells. A shortage of EPO can also cause anemia. , is a protein made by your kidneys. It is created in response to low oxygen levels in the body, typically caused by low red cell counts and anemia. EPO causes your bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. to make more red blood cells.
Your doctor will order an EPO level to see if a shortage could be causing your anemia. A low EPO level may indicate a problem other than MDS, or it may make anemia worse in people who have MDS. Your doctor may prescribe a man-made form of EPO if yours is low.
Vitamin B12 and folate levels
If you have red blood cells with an abnormal shape, size or look, your doctor will check the your blood levels of vitamin B12 vitamin B12: A complex vitamin found in animal products. Vitamin B12 helps maintain healthy red blood cells and nerve cells. A shortage of Vitamin B12 and folate can reduce blood cell production in the bone marrow. Also called B complex vitamin. and folate folate: (FOE-late) A B-vitamin that is found in fresh or lightly cooked green vegetables. It helps the bone marrow make normal blood cells. Most people get enough folate in their diet. Doctors may have people with paroxysmal nocturnal hemaglobinuria (PNH) take a man-made form of folate called folic acid. (folic acid). A shortage of these vitamins can cause dysplasia, or cells that are not normal. These abnormal looking cells don’t work right, and this can lead to anemia.
Bone Marrow Tests
A bone marrow sample is usually a simple 30-minute procedure. The doctor removes some bone marrow aspirate (liquid bone marrow), typically from the pelvic or breast bone, with a hollow needle. A solid piece of bone marrow is also removed for a bone marrow biopsy bone marrow biopsy: A medical procedure to remove a small piece of solid bone marrow using a needle that goes into the marrow of the hip bone. The solid bone marrow is examined for cell abnormalities, the number of different cells and checked for scarring of the bone marrow. .
A bone marrow test is done for two main reasons:
- To confirm an MDS diagnosis
- To see if your MDS has stayed the same, improved or worsened since the last exam
The bone marrow test shows:
- Exactly what types and amounts of cells your marrow is making
- Levels of bone marrow blasts blasts: See Blast Cells. (immature white blood cells)
- Damaged chromosomes chromosomes: The part of the cell that contains our DNA or genetic code. (DNA) in bone marrow cells. These are called cytogenetic abnormalities, some of which are linked to specific MDS sub-types