Multiple Myeloma how to diagnose in children
Multiple myeloma is a type of blood cancer that originates in plasma cells, a kind of white blood cell responsible for producing antibodies. While it predominantly affects older adults, cases involving children are exceedingly rare, which makes diagnosis particularly challenging. Recognizing and diagnosing multiple myeloma in children requires a careful and systematic approach, given that many of its symptoms can resemble other childhood illnesses.
Typically, children presenting with symptoms suggestive of multiple myeloma may exhibit persistent bone pain, fatigue, unexplained fractures, anemia, frequent infections, or high levels of calcium in the blood. Because these symptoms are common to various pediatric conditions, healthcare providers must conduct a thorough evaluation to differentiate multiple myeloma from other diseases.
The initial step in diagnosis involves a comprehensive clinical history and physical examination. The doctor will inquire about the duration and pattern of symptoms, family history of blood disorders, and any previous illnesses. During the physical exam, the physician assesses for signs such as bone tenderness, swelling, pallor, or lymphadenopathy.
Laboratory investigations are the cornerstone of diagnosis. A complete blood count (CBC) often reveals anemia, a common feature in multiple myeloma. Blood tests may also show elevated calcium levels, indicating hypercalcemia, which results from bone destruction caused by malignant plasma cells. To confirm the suspicion, serum protein electrophoresis (SPEP) and immunofixation are performed to detect abnormal monoclonal proteins (M-proteins) produced by malignant plasma cells.
Further diagnostic steps include measuring free light chains in the serum and urine. Urinalysis may reveal Bence-Jones proteins, which are abnormal light chains filtered through the kidneys. Imaging studies play a vital role in identifying bone lesions characteristic of multiple myeloma. Skeletal surveys using X-rays can reveal lytic lesions or areas of bone destruction. More advanced imaging techniques like MRI or PET scans provide detailed visualization of bone marrow involvement and help identify soft tissue masses.
A definitive diagnosis often requires a bone marrow biopsy. This procedure involves extracting a small sample of bone marrow, usually from the hip bone, to examine the proportion of plasma cells. In multiple myeloma, a significant increase in abnormal plasma cells—typically more than 10%—confirms the diagnosis. The biopsy also helps rule out other hematological malignancies.
In children, the rarity of multiple myeloma makes it essential for clinicians to consider other differential diagnoses, such as infections, metabolic bone diseases, or other types of leukemia, before confirming the diagnosis. Multidisciplinary collaboration among pediatric hematologists, radiologists, and pathologists is critical to ensure accurate diagnosis and appropriate treatment planning.
Early diagnosis of multiple myeloma in children, although rare, is crucial for initiating timely therapy and improving outcomes. While treatment options are limited due to the disease’s rarity in pediatric populations, advances in adult therapies, including chemotherapy, targeted agents, and stem cell transplantation, can inform management strategies tailored to younger patients.
