What Is Bone Marrow Dysplasia Syndrome?
Bone marrow dysplasia syndrome, also known as myelodysplastic syndrome, is a disorder that leads to the production of abnormal blood stem cells in the bone marrow in cancer stages. These syndromes can cause severe conditions such as anemia, frequent infections, and uncontrolled bleeding. Some affected patients may even develop acute myeloid leukemia. It may develop as a complication of cancer radiation treatment.
What Is the Cause of Bone Marrow Dysplasia Syndrome?
The syndrome develops when there is an abnormal generation of blood cells. Blood cells are synthesized in the bone marrow. Bone marrow is the soft spongious material in the center of the bones. The function of the bone marrow is to manage the production of blood cells, nourishing the blood stem cells and supplying the mature blood cells to the body.
This syndrome occurs when the blood stem cells do not mature into normal (healthy) blood cells. Instead, these blood stem cells either end up dying in the bone marrow or die after they enter the bloodstream. Similarly, when the blood stem cells do not mature and leave the bone marrow, there is less room left for healthy blood cells. Therefore, having fewer blood cells than normal might increase the chance of the patient developing serious health concerns.
People appear to develop MDS in one of two ways: through activities that increase their risk of developing the syndrome and by inheriting certain conditions.
What Activities Are Linked to Bone Marrow Dysplasia Syndrome?
-
Past treatment of a malignant tumor with chemotherapy or radiotherapy. Usually, the symptoms of the syndrome may appear six to seven years after the completion of the therapy.
-
Exposure to certain chemicals, including nicotine, tobacco smoke, chemical pesticides, and solvents like benzene.
-
Exposure to heavy metals, such as mercury, arsenic, cadmium, or lead.
What Genetic Conditions Are Linked to Bone Marrow Dysplasia Syndrome?
Generally, five to 15 percent of individuals diagnosed with the syndrome suffer from genetic mutations that elevates the risk of developing the syndrome. The genetic conditions associated with the syndrome include:
-
Fanconi Anemia - It is a rare genetic disorder where the bone marrow does not generate enough healthy blood cells.
-
Dyskeratosis Congenita - It is another rare genetic disorder where the bone marrow does not synthesize sufficient blood cells.
-
Diamond-Blackfan Anemia - It is also a rare genetic blood disorder that occurs when the bone marrow does not produce sufficient red blood cells.
-
Shwachman-Diamond Syndrome - It is a congenital condition (present at birth). The children’s pancreatic glands and bone marrow are affected by the syndrome.
What Are the Symptoms of Bone Marrow Dysplasia Syndrome?
Usually, the condition is asymptomatic. Sometimes patients discover their medical condition in routine blood investigations. Anemia is the most common clinical manifestation of bone marrow dysplasia syndrome. Usually, the individuals may experience the following;
-
The patient may experience breathlessness.
-
Unexplained chronic anemia.
-
They may feel weak or very exhausted.
-
The skin may become paler.
-
Frequent bleeding and bruising than normal.
-
The patient may observe pinpoint-sized bleeding spots on the skin, known as petechiae (tiny bleeding spots under the skin).
-
Frequently occurring infections and fever.
What Is the Epidemiology of Bone Marrow Dysplasia Syndrome?
More than 20,000 people are diagnosed with this syndrome each year. It is mainly seen in elderly people. Children and young people can develop bone marrow dysplasia syndromes, but it does not occur often. Usually, male individuals are affected more often than females. White people are affected more commonly than black people.
How Is Bone Marrow Dysplasia Syndrome Diagnosed?
Healthcare professionals suggest several blood tests and bone marrow tests to diagnose myelodysplastic syndromes, including:
-
Complete Blood Count (CBC) - This also includes differential blood count. The healthcare executive will draw samples of blood from the patient to evaluate the red and white blood cell count, including the individual counting of each type of white blood cell.
-
Peripheral Blood Smear - The blood sample of the patient is analyzed for alterations in the number, size, shape, and size of blood cells.
-
Cytogenetic Evaluation - The blood sample is viewed under a microscope by the pathologist to analyze the changes in the blood cell chromosomes. Chromosomes are DNA (deoxyribonucleic acid) molecules that contain genes. Abnormally generated chromosomes suggest an alteration in the DNA structure of the patient that leads to changes in the blood cell chromosomes.
-
Bone Marrow Aspiration and Bone Biopsy - Bone marrow biopsy involves a procedure in which a hollow needle is inserted by the healthcare provider into the hipbone to extract bone marrow tissue, blood, and a small sample of the lesional bone for histopathological examination under a microscope.
What Is the Treatment of Bone Marrow Dysplasia Syndrome?
The main goal of the treatment is to bring the blood cell count back to normal levels. The healthcare provider may also decide to destroy the abnormal blood cells.
Chemotherapy, radiotherapy, immunosuppressive therapy, or stem cell transplantation to kill the abnormal blood cells may also be considered treatment modalities by healthcare professionals. Immunosuppressive therapy acts by suppressing hyperactive immune systems and helps by reducing the need for blood transfusions. Stem cell transplantation replaces the abnormal blood-forming cells with stem cells obtained from the donor’s blood or bone marrow. These frozen stem cells are stored while the patient receives chemotherapy. The stem cells are then thawed and returned to the patient through an intravenous route. The re-infused cells grow and restore the blood cells in the patient’s body.
Conclusion
To conclude, bone marrow dysplasia syndrome is a myelodysplastic syndrome characterized by disruption in the production of blood cells. The cause is uncertain, but many cases occur as a result of a complication of the chemotherapy procedure. The disease may even progress to leukemia. Hence, it is crucial to immediately seek medical help as soon as the disease is diagnosed.
