SNP Shot: Genomic Insights

Multiple myeloma is a cancer that starts in the bone marrow, the soft tissue inside most bones. This marrow is responsible for producing vital blood components: red blood cells (carrying oxygen), white blood cells (the immune system), and platelets (for blood clotting).

The hallmark of multiple myeloma is the presence of abnormal plasma cells, a specific type of white blood cell. In this disease, these cells proliferate uncontrollably, increasing from a small percentage to the dominant cell type in the bone marrow. These abnormal cells form tumors in the bones, leading to bone pain and a higher chance of fractures. Nerve compression due to these tumors can cause numbness or weakness in the limbs. Bone loss, especially in the skull, spine, ribs, and pelvis, is also common. This bone breakdown can release excess calcium into the bloodstream (hypercalcemia), causing symptoms like nausea, appetite loss, excessive thirst, fatigue, muscle weakness, and confusion.

The malfunctioning plasma cells in multiple myeloma disrupt the production of healthy blood cells. This can lead to anemia (low red blood cell count), causing fatigue, weakness, and pale skin; leukopenia (low white blood cell count), weakening the immune system and increasing susceptibility to infections like pneumonia; and thrombocytopenia (low platelet count), resulting in abnormal bleeding and easy bruising. Kidney problems can also arise, either due to hypercalcemia or the toxic proteins produced by the abnormal plasma cells.

Multiple myeloma typically appears around the age of 65. While it can lead to life-threatening complications, the progression varies significantly between individuals. Some people are diagnosed accidentally during tests for other conditions and may remain symptom-free for many years.

Inheritance:

This condition is usually not passed down through families; it results from genetic changes (somatic mutations) in plasma cells. While there appears to be a slightly increased risk of developing multiple myeloma within certain families, the way this risk is inherited is currently unknown.