Multiple Myeloma how to diagnose in adults
Multiple myeloma is a complex and often elusive form of blood cancer that originates in plasma cells, a type of white blood cell responsible for producing antibodies. It primarily affects adults, especially those over the age of 65, though it can occur in younger individuals as well. Early diagnosis is crucial for effective management and improving quality of life, yet it can be challenging because symptoms are often vague and nonspecific.
The initial step in diagnosing multiple myeloma typically involves a detailed medical history and physical examination. Patients may report symptoms such as persistent bone pain, fatigue, weakness, recurrent infections, unexplained weight loss, or anemia. These signs, while indicative of various conditions, should prompt healthcare providers to proceed with targeted diagnostic tests.
Blood tests are often the first line of investigation. The serum protein electrophoresis (SPEP) test is crucial, as it detects abnormal monoclonal proteins or “M proteins” produced by malignant plasma cells. Elevated levels of these proteins are a hallmark of multiple myeloma. Alongside SPEP, serum free light chain assays quantify free kappa and lambda light chains, offering further insight into abnormal plasma cell activity. Blood counts are also evaluated to identify anemia, a common feature in patients with this disease.
Urinalysis can reveal Bence Jones proteins—light chains excreted in the urine—which are present in many cases of multiple myeloma. These proteins can cause kidney damage if not diagnosed and managed promptly. Additionally, blood tests assessing kidney function, calcium levels, and total protein help evaluate the disease’s impact on various organs and systems.
Imaging studies play a vital role in confirming the diagnosis and assessing the extent of bone involvement. Conventional skeletal surveys, including X-rays, can reveal lytic lesions—areas where bone has been destroyed by malignant plasma cells. However, more sensitive imaging modalities like MRI and PET-CT scans provide detailed visualization of bone marrow infiltration and extramedullary disease, facilitating a comprehensive assessment.
A definitive diagnosis often requires a bone marrow biopsy, which involves extracting a sample of bone marrow, typically from the pelvis. Under microscopic examination, a high proportion of plasma cells—usually over 10% of marrow cells—confirms the diagnosis. The biopsy helps differentiate multiple myeloma from related plasma cell disorders, such as monoclonal gammopathy of undetermined significance (MGUS) or smoldering myeloma, which may require monitoring rather than immediate treatment.
In some cases, additional tests like cytogenetic and molecular analyses are performed to identify genetic abnormalities associated with prognosis and treatment planning. These detailed studies can provide valuable insights into disease behavior and potential responses to therapy.
In summary, diagnosing multiple myeloma involves a combination of clinical assessment, laboratory tests, imaging studies, and confirmatory bone marrow examination. Early detection not only improves treatment options but also enhances patient outcomes by allowing timely intervention before significant organ damage occurs.
