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Disease Profile

Fibrosing mediastinitis

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.

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US Estimated

Europe Estimated

Age of onset

-

ICD-10

J98.5

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)

Mediastinal fibrosis; Idiopathic mediastinal fibrosis; Sclerosing mediastinitis;

Categories

Lung Diseases

Summary

Fibrosing mediastinitis is a condition that affects the area between the lungs (mediastinum) which contains the heart, large blood vessels, windpipe (trachea), esophagus, and lymph nodes. People with fibrosing mediastinitis have varying amounts of scar tissue in the mediastinum which may cause problems for the organs located there.[1] For example, some affected people may develop blocked airways that can interfere with lung function. Others may have compressed blood vessels which can slow or prevent blood flow to and from the heart. The exact cause of fibrosing mediastinitis is not fully understood, but it is not inherited. Many cases are linked to a specific type of fungal infection called histoplasmosis.[2] Treatment depends on which structures of the mediastinum are affected, the severity of the scarring and, in some cases, the cause of the condition.[3][4]

Symptoms

The signs and symptoms of fibrosing mediastinitis depend on which structures of the mediastinum are affected (i.e. the heart, large blood vessels, windpipe, esophagus, and lymph nodes) and the severity of the scarring. Some people with this condition have only a single mass of scar tissue while others develop more extensive scarring that affects the entire mediastinum and may even extend into the neck or lungs. Many symptoms of fibrosing mediastinitis arise when the esophagus, blood vessels and/or airways become blocked or compressed. Signs of these problems may include:[2][4]

Cause

In the United States, most cases of fibrosing mediastinitis have been linked to a specific type of fungal infection called histoplasmosis. People infected by the fungus Histoplasma capsulatum usually have no symptoms or only a mild, flu-like illness.[1][5] However, fibrosing mediastinitis appears to be a late and rare complication in less than 1% of histoplasmosis cases.[6][7]

Other less common causes of fibrosing mediastinitis include radiation therapy, autoimmune disease, tuberculosis, certain medications, Behcet's disease, and inflammatory diseases such as sarcoidosis.[2][6] In roughly 10-20% of cases, the cause of fibrosing mediastinitis cannot be determined.[8]

Treatment

There is no cure for fibrosing mediastinitis and the benefits of current treatments are unclear. In general, treatment options depend on which structures of the mediastinum are affected (i.e. the heart, large blood vessels, windpipe, esophagus, and lymph nodes), the severity of the scarring and, in some cases, the cause of the condition. For example, fibrosing mediastinitis caused by histoplasmosis may be treated with antifungal medications while cases caused by autoimmune disorders may respond best to corticosteroids.[4] Other treatment options include surgery to removed scarred tissue and local therapies to treat specific problems (i.e. stents, laser therapy).[2][3]

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

    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 provides more information on mediastinitis and histoplasmosis. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions. To view the information pages click on the links above.
    • 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.
      • 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 Fibrosing mediastinitis. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Histoplasmosis. MedlinePlus. October, 2012; https://www.nlm.nih.gov/medlineplus/ency/article/001082.htm. Accessed 11/3/2014.
          2. Rossi S, McAdams H, Rosado-de-Christenson M, Franks T, Galvin J. Fibrosing Mediastinitis. Radiographics. 2001; 21(3):737-757. Accessed 11/5/2014.
          3. L. Joseph Wheat, Alison G. Freifeld, Martin B. Kleiman, John W. Baddley, David S. McKinsey, James E. Loyd. Clinical Practice Guidelines for the Management of Patients with Histoplasmosis: 2007 Update by the Infectious Diseases Society of America. Clinical Infectious Disease. October, 2007; 45:807-825. https://www.idsociety.org/uploadedFiles/IDSA/Guidelines-Patient_Care/PDF_Library/Histoplasmosis.pdf#search=%22Mediastinal fibrosis%22. Accessed 11/3/2014.
          4. Steven E Weinberger, MD. Fibrosing Mediastinitis. UpToDate. Aug 06, 2013; https://www.uptodate.com/contents/fibrosing-mediastinitis. Accessed 11/5/2014.
          5. Histoplasmosis. Center for Disease Control. https://www.cdc.gov/fungal/diseases/histoplasmosis/index.html. Accessed 11/3/2014.
          6. Arbra CA, Valentino JD, Martin JT. Vascular sequelae of mediastinal fibrosis. Asian Cardiovascular and Thoracic Annals. May, 2014; https://aan.sagepub.com/content/early/2014/05/15/0218492314534844. Accessed 11/3/2014.
          7. Peebles RS, Carpenter CT, Dupont WD, Loyd JE. Medistinal fibrosis is associated with human leukocyte antigen-A2*. CHEST. February, 2000; 117(2):482-485.
          8. Worrell JA, Donnelly EF, Martin JB, Bastarache JA, Loyd JE. Computed tomography and the idiopathic form of proliferative fibrosing mediastinits. J Thorac Imaging. August 2007; 22(3):235-240.

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