Rare Oncology News

Disease Profile

Multiple myeloma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Adult

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ICD-10

C90.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Plasma cell myeloma; Kahler disease; Myelomatosis;

Categories

Blood Diseases; Nervous System Diseases; Rare Cancers

Summary

Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associated with fatigue and shortness of breath. Other features of the condition may include multiple infections; abnormal bleeding; bone pain; weak and/or easily broken bones; and numbness and/or weakness of the arms and legs.[1][2][3] The exact underlying cause of multiple myeloma is currently unknown. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS).[1][2][4] Treatment varies based on many factors, but may include one or more of the following interventions: chemotherapy, corticosteroid medications, targeted therapy, stem cell transplant, biological therapy, radiation therapy, surgery and/or watchful waiting.[1][2][3]

Symptoms

In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. Other features of the condition may include:[2][5][6]

  • Bone pain
  • Nausea
  • Constipation
  • Loss of appetite
  • Frequent infections
  • Weight loss
  • Excessive thirst
  • Weakness and/or numbness in the arms and legs
  • Confusion
  • Abnormal bleeding
  • Weak bones that may break easily
  • Difficulty breathing

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Osteopenia
0000938
Pathologic fracture
Spontaneous fracture
0002756
30%-79% of people have these symptoms
Acute kidney injury
0001919
Anemia
Low number of red blood cells or hemoglobin
0001903
Bone pain
0002653
Decreased circulating antibody level
0004313
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine

[ more ]

0003259
Fatigue
Tired
Tiredness

[ more ]

0012378
Generalized muscle weakness
0003324
Hyperproteinemia
0002152
Increased circulating IgG level
0003237
Nephropathy
0000112
Nephrotic syndrome
0000100
5%-29% of people have these symptoms
Abnormality of the bladder
0000014
Abnormality of vitamin B12 metabolism
0004341
Functional abnormality of the gastrointestinal tract
0012719
Hypercalcemia
High blood calcium levels
Increased calcium in blood

[ more ]

0003072
Increased circulating IgA level
0003261
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Spinal cord compression
Pressure on spinal cord
0002176
Tall stature
Increased body height
0000098
Vertebral compression fractures
Compression fracture
0002953
Weight loss
0001824
1%-4% of people have these symptoms
Lymphadenopathy
Swollen lymph nodes
0002716
Pleural effusion
Fluid around lungs
0002202
Splenomegaly
Increased spleen size
0001744
Percent of people who have these symptoms is not available through HPO
Amyloidosis
0011034
Multiple myeloma
0006775
Paraproteinemia
0031047
Somatic mutation
0001428

Cause

Although the exact underlying cause of multiple myeloma is poorly understood, the specific symptoms of the condition result from abnormal and excessive growth of plasma cells in the bone marrow. Plasma cells help the body fight infection by producing proteins called antibodies. In people with multiple myeloma, excess plasma cells form tumors in the bone, causing bones to become weak and easily broken. The abnormal growth of plasma cells also makes it more difficult for the bone marrow to make healthy blood cells and platelets. The plasma cells produced in multiple myeloma produce abnormal antibodies that the immune system is unable to use. These abnormal antibodies build up in the body and cause a variety of problems.[2][4][5]

Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS).[1][2][4]

Diagnosis

A diagnosis of multiple myeloma may be suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include:[1][3][2]

The American Cancer Society offers more information regarding the diagnosis of multiple myeloma, including a summary of the many tests that may be recommended. Please click on the link to access this resource.

Some affected people may have no suspicious signs or symptoms of multiple myeloma, especially in the early stages of the condition. In these cases, multiple myeloma is sometimes diagnosed by chance when a blood test or urine test is ordered to investigate another condition.[3]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    The treatment of multiple myeloma varies based on many factors including the age and general health of the affected person; the associated signs and symptoms; and the severity of the condition. In general, one or more of the following interventions may be used to treat multiple myeloma:[1][2][3]

    The National Cancer Institute offers information regarding the management of multiple myeloma, including more specific information regarding the treatments outlined above. Please click on the link to access this resource.

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Melphalan(Brand name: Alkeran® (injection)) Manufactured by Glaxo Wellcome Inc.
      FDA-approved indication: For the palliative treatment of patients with multiple myeloma for whom oral melphalan is not appropriate.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Daratumumab(Brand name: Darzalex) Manufactured by Janssen Research & Development, LLC
      FDA-approved indication: May 2018 approved in combination with bortezomib, melphalen, and prednisone for the treatment of patients with newly diagnosed multiple myeloma who are ineligible for autologous stem cell transplant. June 2017 approved in combination with pomalidomide and dexamethasone for the treatment of patients with multiple myeloma who have received at least two prior therapies including lenalidomide and a proteasome inhibitor. November 2016 approved in combination with lenalidomide and dexamethasone, or bortezomib and dexamethasone, for the treatment of patients with multiple myeloma who have received at least one prior therapy.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Doxorubicin HCL liposome injection(Brand name: Doxil® (injection)) Manufactured by Centocor Ortho Biotech Inc.
      FDA-approved indication: For use in combination with bortezomib for the treatment of patients with multiple myeloma who have not previously received bortezomib and have at least one prior therapy.
      National Library of Medicine Drug Information Portal
    • Elotuzumab(Brand name: Empliciti) Manufactured by Bristol-Myers Squibb Co.
      FDA-approved indication: November 2018, elotuzumab (Empliciti) was approved in combination with pomalidomide and dexamethasone for the treatment of adult patients with multiple myeloma who have received at least two prior therapies including lenalidomide and a proteasome inhibitor. In November 2015, it was approved in combination with lenalidomide and dexamethasone for the treatment of patients with multiple myeloma who have received one to three prior therapies.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Carfilzomib(Brand name: Kyprolis) Manufactured by Onyx Therapeutics, Inc.
      FDA-approved indication: Treatment of patients with multiple myeloma who have received at least two prior therapies including bortezomib and an immunomodulatory agent and have demonstrated disease progression on or within 60 days of completion of the last therapy.
      National Library of Medicine Drug Information Portal
    • Ixazomib citrate(Brand name: Ninlaro) Manufactured by Millennium Pharmaceuticals
      FDA-approved indication: Use in combination with lenalidomide and dexamethasone for the treatment of patients with multiple myeloma who have received at least one prior therapy.
      National Library of Medicine Drug Information Portal
    • Pomalidomide(Brand name: Pomalyst) Manufactured by Celgene Corporation
      FDA-approved indication: Treatment of patients with multiple myeloma who have received at least two prior therapies including lenalidomide and bortezomib and have demonstrated disease progression on or within 60 days of completion of the last therapy.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Lenalidomide(Brand name: Revlimid) Manufactured by Celgene Corporation
      FDA-approved indication: For use in combination with dexamethasone for the treatment of multiple myeloma. Also, for use for the treatment of multiple myeloma (MM), as maintenance following autologous hematopoietic stem cell transplantation (auto-HSCT).
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Thalidomide(Brand name: Thalomid) Manufactured by Celgene Corporation
      FDA-approved indication: Acute treatment of the cutaneous manifestations of moderate to severe erythema nodosum leprosum (ENL) and as maintenance therapy for prevention and suppression of the cutaneous manifestations of ENL recurrences.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Bortezomib(Brand name: Velcade®) Manufactured by Millennium Pharmaceuticals, Inc.
      FDA-approved indication: Treatment of multiple myeloma patients who have received at least one prior therapy. Treatment of patients with mantle cell lymphoma.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

      • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

        Organizations Providing General Support

          Learn more

          These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

          Where to Start

          • The American Cancer Society provides information on Multiple myeloma. Please click on the link to access this resource.
          • Mayo Clinic has an information page on Multiple myeloma.
          • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
          • Genetics Home Reference (GHR) contains information on Multiple myeloma. This website is maintained by the National Library of Medicine.
          • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
          • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
          • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

            In-Depth Information

            • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
            • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
            • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
            • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
            • PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple myeloma. Click on the link to view a sample search on this topic.

              Selected Full-Text Journal Articles

                References

                1. Dhaval Shah, MD. Multiple Myeloma. Medscape Reference. February 2016; https://emedicine.medscape.com/article/204369-overview.
                2. Multiple Myeloma. American Cancer Society. January 2016; https://www.cancer.org/Cancer/MultipleMyeloma/DetailedGuide/index.
                3. Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment. National Cancer Institute. October 2015; https://www.cancer.gov/types/myeloma/patient/myeloma-treatment-pdq.
                4. Multiple Myeloma. Mayo Clinic. December 2015; https://www.mayoclinic.org/diseases-conditions/multiple-myeloma/basics/definition/con-20026607.
                5. Multiple Myeloma. MedlinePlus. February 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000583.htm.
                6. S Vincent Rajkumar, MD. Clinical features, laboratory manifestations, and diagnosis of multiple myeloma. UpToDate. January 2016;
                7. S Vincent Rajkumar, MD. Staging and prognostic studies in multiple myeloma. UpToDate. January 2016;

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