Rare Hematology News

Disease Profile

Castleman disease

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

Age of onset

All ages

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ICD-10

D47.7

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)

Angiofollicular ganglionic hyperplasia; Angiofollicular lymph hyperplasia; Giant lymph node hyperplasia;

Categories

Blood Diseases

Summary

Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multiple sets of lymph nodes and other tissues throughout the body.[1][2] The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition.[3] Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection.[4]

For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages.

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
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Anemia
Low number of red blood cells or hemoglobin
0001903
Elevated C-reactive protein level
0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Fatigue
Tired
Tiredness

[ more ]

0012378
Follicular hyperplasia
0002729
Increased circulating interleukin 6
0030783
Mediastinal lymphadenopathy
Swollen lymph nodes in center of chest
0100721
Weight loss
0001824
5%-29% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Abdominal mass
0031500
Cough
Coughing
0012735
Decreased mean corpuscular volume
0025066
Flank pain
0030157
Generalized lymphadenopathy
Generalized swelling of lymph nodes
Swollen lymph nodes affecting all regions of the body

[ more ]

0008940
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Nausea and vomiting
0002017
1%-4% of people have these symptoms
Anasarca
0012050
Dyspnea
Trouble breathing
0002094
Hematuria
Blood in urine
0000790
Intestinal obstruction
Bowel obstruction
Intestinal blockage

[ more ]

0005214
Myelofibrosis
0011974
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Restrictive cardiomyopathy
0001723
Thrombocytopenia
Low platelet count
0001873
Ureteral obstruction
0006000

Cause

The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of CD.[4][2]

It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with multicentric CD, specifically. HHV-8 is found in nearly all people who are HIV-positive and develop multicentric CD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause multicentric CD by making its own IL-6.[4][2]

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

    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 detailed information about Castleman disease. Click on the link to access this information.
      • The Mayo Clinic Web site provides further information on Castleman disease.
      • 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.
        • 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 Castleman disease. Click on the link to view a sample search on this topic.

          References

          1. Jennifer R Brown, MD, PhD; Jon C Aster, MD; Nikhil C Munshi, MD. Unicentric Castleman's disease. UpToDate. November 2013; Accessed 6/24/2015.
          2. Jon C Aster, MD; Jennifer R Brown, MD, PhD; Nikhil C Munshi, MD. Multicentric Castleman's disease. UpToDate. January 2015; Accessed 6/25/2015.
          3. Castleman disease. Orphanet. January 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=160.
          4. Neetu Radhakrishnan, MD. Castleman Disease. Medscape Reference. January 2015; https://emedicine.medscape.com/article/2219018-overview.

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