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Disease Profile

Waldenstrom macroglobulinemia

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.

Unknown

US Estimated

Europe Estimated

Age of onset

Elderly

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ICD-10

C88.0

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)

Waldenstrom's macroglobulinaemia; Lymphoplasmacytic lymphoma; Waldenstrom's syndrome;

Categories

Rare Cancers

Summary

Waldenstrom macroglobulinemia is a chronic, slow-growing lymphoproliferative disorder.[1] It usually affects older adults and is primarily found in the bone marrow, although lymph nodes and the spleen may be involved. Affected individuals have a high level of an antibody called immunoglobulin M (IgM) in their blood, which can cause thickening of the blood (hyperviscosity).[2] Although some individuals initially do not have symptoms and are diagnosed from routine blood work, common symptoms may include weakness, appetite loss and weight loss. Other symptoms may include peripheral neuropathy, fever, Raynaud's phenomenon, and mental status changes.[1] Hyperviscosity of the blood may cause nosebleeds, headaches, dizziness, and blurring or loss of vision.[2] The cause of the condition is not known but environmental, genetic, and viral factors have been suggested. There have been some reports of familial cases suggesting a genetic predisposition. Treatment is often reserved for those with symptoms and may include various medications including corticosteroids, alkylating agents, biologic response modifiers and purine analogues.[1]

Symptoms

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
5%-29% of people have these symptoms
Leukemia
0001909
Lymphoma
Cancer of lymphatic system
0002665
Percent of people who have these symptoms is not available through HPO
Impaired lymphocyte transformation with phytohemagglutinin
0003347
Monoclonal immunoglobulin M proteinemia
0005508
Polyclonal elevation of IgM
0003459
Polyneuropathy
Peripheral nerve disease
0001271
Somatic mutation
0001428
Do you have updated information on this disease? We want to hear from you.

Treatment

For individuals who do not have any symptoms, doctors may decide to "watch and wait" and not treat the disease right away. This can last many years for some individuals. For individuals requiring treatment, the type and severity of symptoms present, aggressiveness of the disease, and age all play a role in the type of therapy chosen.[2][1]

Some affected individuals have a procedure called plasmapheresis, to reverse or prevent the symptoms associated with the thickening of the blood (hyperviscosity). This involves removing the blood, passing it through a machine that removes the part of the blood with the IgM antibody, and returning the blood to the body. This may be combined with other treatments such as various types of chemotherapy. Many different drugs can be used to manage this condition, both alone and/or in various combinations.

For many individuals, there is a delayed response to treatment and the best response sometimes occurs several months after the treatment ends. Although the condition is not curable, many individuals do have a long-term response to treatment. Those who relapse after treatment or do not respond to initial treatment may consider secondary therapies. There are also several new drugs and drug combinations that are being studied in clinical trials.[2]

More detailed information about the specific medications used to treat Waldenstrom macroglobulinemia can be viewed on Medscape Reference's Web site.

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).

      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

      • 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 Waldenstrom macroglobulinemia. This website is maintained by the National Library of Medicine.
      • 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. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Waldenstrom macroglobulinemia. Click on the link to view a sample search on this topic.

          References

          1. Karen Seiter. Waldenstrom Macroglobulinemia. Medscape Reference. January 31, 2012; https://emedicine.medscape.com/article/207097-overview. Accessed 10/1/2013.
          2. Waldenström's Macroglobulinemia. Lymphoma Research Foundation. 2012; https://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300163. Accessed 10/1/2013.

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