Multiple Myeloma
Multiple Myeloma is a complex and aggressive hematological malignancy characterized by the uncontrolled proliferation of plasma cells in the bone marrow. Plasma cells, a type of white blood cell, are crucial for producing antibodies (immunoglobulins) that fight infection. In Multiple Myeloma, these cells become cancerous (myeloma cells) and produce large amounts of a single type of abnormal antibody known as a monoclonal protein, or M protein, which can be detected in blood or urine. These malignant plasma cells crowd out healthy blood cells and produce substances that cause bone destruction, leading to pain and fractures.
The pathophysiology of Multiple Myeloma involves genetic and epigenetic alterations, leading to the disruption of normal plasma cell growth and death. Common genetic aberrations include chromosomal translocations and deletions, particularly involving chromosome 14. These changes result in the overexpression of oncogenes or the loss of tumor suppressor genes, promoting myeloma cell survival and proliferation.
Clinically, Multiple Myeloma presents with a constellation of symptoms often summarized by the acronym CRAB: hyperCalcemia, Renal failure, Anemia, and Bone lesions. Patients may experience bone pain, especially in the back or ribs, fatigue due to anemia, frequent infections due to immunodeficiency, and kidney problems from the filtration of abnormal proteins. Diagnostically, Multiple Myeloma is confirmed through a combination of laboratory tests (including serum protein electrophoresis, urine protein electrophoresis, and immunofixation), bone marrow biopsy showing more than 10% plasma cells, and imaging studies revealing osteolytic lesions.
Treatment typically involves a combination of therapies, including chemotherapy, corticosteroids, immunomodulatory drugs, proteasome inhibitors, and sometimes stem cell transplantation. The choice of treatment depends on various factors, including the stage of the disease, the patient’s age, and overall health. Recent advancements in treatment, such as targeted therapy and immunotherapy, have significantly improved the prognosis and quality of life for many patients, though the disease remains incurable. Research continues into the molecular mechanisms of the disease and the development of new therapeutic strategies. The complexity of Multiple Myeloma, with its variable clinical presentation and response to treatment, underscores the need for personalized medicine approaches in its management.
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Biomarkers related to this condition:
Light chains are proteins produced by immune cells called plasma cells. Also called kappa light chains, they link together with other proteins (heavy chains) to form immunoglobulins (= antibodies) that target and neutralize specific threats to the bo
Learn moreM-protein is an abnormal protein produced by myeloma cells that accumulates in and damages bone and bone marrow.
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