Rare Hematology News

Disease Profile

Lymphomatoid granulomatosis

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

Adult

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ICD-10

C83.8

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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Summary

Lymphomatoid granulomatosis is a rare disorder characterized by an overproduction of white blood cells known as B lymphocytes. These B cells can build up in the tissues of the body, causing damage to the blood vessels.[1] In many cases of lymphomatoid granulomatosis, the abnormal B cells contain the Epstein-Barr virus. The disease is more common in men, usually after the fifth decade of life.[1][2] Lymphomatoid granulomatosis most commonly affects the lungs, though other areas of the body may also be affected. Signs and symptoms vary but can include cough, shortness of breath, tightness of the chest, fever, weight loss, and fatigue. Skin lesions and central nervous system changes such as headaches, seizures, and ataxia may also be seen. Rarely, the disorder can affect the kidneys or liver. The cause of the disorder is not well understood, though a combination of genetic and immune factors are thought to play a part. Treatment depends on the extent of the disease but may include interferon alfa-2b and combination chemotherapy with rituximab. Occasionally, the disorder resolves on its own without treatment.[1] There has been some debate as to whether lymphomatoid granulomatosis should be viewed as a as a B-cell lymphoma or a lymphoproliferative disease or whether it should be viewed merely as a condition that can develop into a B-cell lymphoma. The prognosis is variable, though lymphomatoid granulomatosis can progress and become fatal in some cases.[2]

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

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

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.

References

  1. Jaffe, Elaine and Wilson, Wyndham. Lymphomatoid Granulomatosis. National Organization for Rare Disorders. 2016; https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/.
  2. Kamangar, Nader. Lymphomatoid Granulomatosis. Medscape. December 31, 2015; https://emedicine.medscape.com/article/299751-overview.