Multiple myeloma is a type of blood cancer that affects plasma cells in the bone marrow. Early detection and accurate diagnosis are critical to improving outcomes for patients. Various diagnostic tests are available to identify multiple myeloma, assess its stage, and guide treatment decisions. In this blog, we’ll dive deep into these diagnostic tests, providing detailed insights into how they work and what patients can expect.

What is Multiple Myeloma?

Multiple myeloma is a hematologic malignancy where abnormal plasma cells multiply uncontrollably in the bone marrow. This leads to a reduction in normal blood cells, bone damage, and complications such as anemia, kidney dysfunction, and frequent infections. Detecting multiple myeloma early requires a range of diagnostic tools to evaluate bone marrow health, plasma cell levels, and related organ damage.

Importance of Early Diagnosis

Early detection of multiple myeloma can be life-saving. Patients often do not exhibit symptoms until the disease has progressed, making early-stage diagnosis through screening tests essential. Early detection allows for:

• Tailored treatment plans
• Better prognosis
• Monitoring of disease progression
• Improved quality of life

Common Symptoms That Lead to Diagnostic Testing

Patients may exhibit a variety of symptoms that lead physicians to suspect multiple myeloma. Some of these include:

• Bone pain (particularly in the spine or ribs)
• Unexplained fractures
• Fatigue and weakness (due to anemia)
• Frequent infections
• Unexplained weight loss
• Kidney problems (e.g., elevated creatinine levels)

Once symptoms appear, physicians will likely recommend diagnostic tests to confirm or rule out multiple myeloma.

Key Diagnostic Tests for Multiple Myeloma

Diagnosing multiple myeloma involves a combination of blood tests, urine tests, imaging studies, and bone marrow examination. Let’s explore these tests in detail.

Blood Tests for Multiple Myeloma

Blood tests are crucial in diagnosing multiple myeloma and determining its severity. Key blood tests include:

Complete Blood Count (CBC)

A complete blood count checks the levels of red blood cells, white blood cells, and platelets. Low red blood cell count (anemia) is common in multiple myeloma, and abnormal levels of white blood cells or platelets may indicate bone marrow dysfunction.

Serum Protein Electrophoresis (SPEP)

Serum protein electrophoresis is used to detect abnormal proteins (monoclonal or M-protein) produced by myeloma cells. The presence of M-protein is a hallmark of multiple myeloma. Further testing may be done to quantify the M-protein level, which is crucial for staging the disease.

Serum Free Light Chain Assay

This test measures the levels of free light chains (kappa and lambda) in the blood. Abnormal ratios between kappa and lambda light chains are indicative of multiple myeloma.

Lactate Dehydrogenase (LDH)

LDH levels are often elevated in multiple myeloma patients and are used to assess the aggressiveness of the disease. High levels of LDH correlate with advanced-stage disease.

Beta-2 Microglobulin

This protein is found on the surface of most cells, and its levels rise in the presence of multiple myeloma. High beta-2 microglobulin levels are associated with a worse prognosis.

Urine Tests

Urine tests are also vital for diagnosing multiple myeloma, particularly in cases where abnormal proteins are excreted through the kidneys.

Urine Protein Electrophoresis (UPEP)

Urine protein electrophoresis helps detect Bence Jones proteins (free light chains) in the urine. Bence Jones proteins are produced by myeloma cells and can cause kidney damage, which is common in multiple myeloma patients.

24-Hour Urine Collection

This test measures the total amount of protein excreted in the urine over 24 hours. Elevated protein levels may indicate kidney involvement due to multiple myeloma.

Imaging Studies

Imaging tests are essential for evaluating the extent of bone damage caused by multiple myeloma. Common imaging tests include:

X-Rays

X-rays are often the first imaging test used to detect bone lesions or fractures caused by myeloma cells. Multiple myeloma can cause lytic lesions, which are areas where bone density is decreased, leading to fractures.

Magnetic Resonance Imaging (MRI)

An MRI provides detailed images of bone and soft tissue. It is particularly useful for detecting bone marrow involvement and identifying early signs of spinal cord compression.

Computed Tomography (CT) Scans

CT scans offer cross-sectional images of the body, helping doctors identify bone damage and the presence of tumors.

Positron Emission Tomography (PET) Scans

A PET scan detects areas of increased metabolic activity, which can indicate the presence of active myeloma cells in the bones or soft tissue.

Bone Marrow Examination

A bone marrow biopsy is a definitive test for diagnosing multiple myeloma. This test involves removing a small sample of bone marrow from the hipbone (or other bones) and analyzing it for abnormal plasma cells.

Bone Marrow Aspiration and Biopsy

During this procedure, a bone marrow aspiration removes a liquid sample of marrow, while a bone marrow biopsy removes a small core of solid tissue. These samples are analyzed for the presence of myeloma cells and the percentage of plasma cells, which is key to confirming the diagnosis.

Cytogenetic Testing

This test examines the chromosomes of myeloma cells to detect genetic abnormalities that can influence the prognosis and treatment plan. Common abnormalities include translocations and deletions of specific chromosomes that can signal a more aggressive disease.

Additional Tests for Assessing Disease Progression

Multiple myeloma can cause damage to organs and tissues beyond the bones. The following tests help assess the impact of the disease on other parts of the body:

Creatinine and Blood Urea Nitrogen (BUN)

These tests evaluate kidney function. Since multiple myeloma can cause kidney damage due to excess protein production, abnormal creatinine and BUN levels are common.

Calcium Levels

Elevated calcium levels (hypercalcemia) are often seen in multiple myeloma patients due to the release of calcium from damaged bones.

Staging of Multiple Myeloma

Once diagnostic tests confirm multiple myeloma, staging helps determine the severity of the disease. The Revised International Staging System (R-ISS) is commonly used, and it considers the following factors:

• Levels of beta-2 microglobulin and LDH
• Cytogenetic abnormalities
• Plasma cell percentage in the bone marrow

Once multiple myeloma is diagnosed through these comprehensive tests, treatment options are explored, with lenalidomide being one of the effective therapies though cost of lenalidomide may be high for some patients. It not only helps in controlling the disease but also promotes the regeneration of healthy blood cells within the bone marrow.

Staging Table:

Conclusion

Diagnosing multiple myeloma requires a thorough evaluation using a range of diagnostic tools. Blood tests, urine tests, imaging, and bone marrow biopsies all play a critical role in detecting the disease, assessing its stage, and guiding treatment decisions. Early and accurate diagnosis is essential for improving the prognosis and quality of life of multiple myeloma patients. If you or a loved one is experiencing symptoms, consult a healthcare provider about these diagnostic tests to ensure timely detection and treatment.

By understanding the various tests available for diagnosing multiple myeloma, patients and their families can better navigate the complexities of this disease and work with their healthcare team to make informed treatment decisions.