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Is Myeloma a Genetic Disorder?

Is Myeloma a Genetic Disorder?
While multiple myeloma may be caused by genetic mutations, it is not considered a genetic disorder. There is no evidence heredity plays a role in the development of the disease.

Multiple myeloma is a rare type of cancer that occurs when plasma cells in the blood grow abnormally and out of control. 

The cause of multiple myeloma is unknown. While it may be due to genetic changes (mutations), it is not considered a genetic disorder. There is no evidence heredity plays a role in the development of the disease. Some research has found there may be a small chance the condition could be passed from parents to offspring, but it’s extremely uncommon for more than one person in a family to have multiple myeloma.

Risk factors that may increase the chance of developing the disease include:

  • Age: most patients who are diagnosed are over the age of 65
  • Men are slightly more likely to develop multiple myeloma 
  • Family history of the disease
  • Obesity
  • Ethnicity: African American
  • Having other plasma cell diseases

What Are Symptoms of Multiple Myeloma?

Multiple myeloma does not always cause symptoms, but when symptoms occur, they may include:

  • Bone problems
    • Pain
    • Weakness
    • Fractures
  • Low blood counts of red blood cells (anemia), white blood cells (leukopenia), or plasma cells (thrombocytopenia)
  • High blood levels of calcium (hypercalcemia)
  • Infections such as pneumonia
  • Nervous system 
    • Weakened spinal bones may result in spinal cord compression, a medical emergency. See a doctor immediately if you have: 
      • Sudden severe back pain
      • Numbness and/or muscle weakness, often in the legs
  • Nerve damage 
    • Weakness and numbness 
    • “Pins and needles” 
  • Kidney problems
    • Leg swelling
    • Shortness of breath
    • Itching
    • Weakness
  • Thickened blood (hyperviscosity) that slows blood flow to the brain
    • Confusion
    • Dizziness
    • Stroke symptoms, including slurred speech and weakness on one side of the body 

How Is Multiple Myeloma Diagnosed?

Multiple myeloma is diagnosed with a patient history and physical examination, and a combination of blood, urine, and imaging tests. 

Lab tests used to diagnose multiple myeloma include: 

  • Blood tests
    • Blood chemistry 
    • Complete blood count (CBC) 
    • Beta-2 microglobulin
    • Serum free light chains
    • Levels of albumin, calcium, creatinine, and other electrolytes
    • Quantitative immunoglobulins
    • Lactic dehydrogenase (LDH) levels 
    • Electrophoresis
  • Urine tests 
  • Biopsy
  • Imaging tests
    • X-rays of the bone
    • Computed tomography (CT) 
    • Magnetic resonance imaging (MRI) 
    • Positron emission tomography (PET) 
    • Echocardiogram (“echo”) of the heart

A diagnosis of multiple myeloma requires:

  1. A plasma cell tumor (proven by biopsy) OR at least 10% plasma cells in the bone marrow, AND
  2. At least one of the following:
    1. High blood calcium level
    2. Low red blood cell counts (anemia)
    3. Low kidney function
    4. Increase in one type of light chain in the blood so that one type is 100 times more common than the other
    5. Holes in the bones from tumor found on imaging studies 
    6. 60% or more plasma cells in the bone marrow

What Is the Treatment for Multiple Myeloma?

Treatment for multiple myeloma may be systemic (affecting the entire body) or local (directed at the tumor without affecting the entire body). 

Systemic treatments reach cancer cells throughout the body and may include: 

  • Drug therapy 
    • It is generally preferable to use at least 2 or 3 different kinds of drugs in combination because the cancer responds better
    • Proteasome inhibitors 
    • Immunomodulating agents 
    • Steroids
    • Chemotherapy
    • Histone deacetylase (HDAC) inhibitors 
    • Monoclonal antibodies 
    • Antibody-drug conjugates 
    • Nuclear export inhibitor 
    • Bisphosphonates for bone disease
    • CAR T-cell therapy (a type of immunotherapy)
  • Stem cell transplant 
  • Supportive treatments 
    • Intravenous immunoglobulin (IVIG) to help with immunity
    • Treatment for low blood cell counts
    • Plasmapheresis to remove myeloma protein from the blood

Local treatments are often used to treat earlier stage cancer and may include: 

  • Surgery 
  • Radiation therapy

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References
Image Source: iStock Images

https://www.cancer.org/cancer/multiple-myeloma.html

https://www.cancer.net/cancer-types/multiple-myeloma/statistics

https://pubmed.ncbi.nlm.nih.gov/15809451/

https://powerfulpatients.org/2019/10/17/is-multiple-myeloma-hereditary/