Rare Pulmonology News

Disease Profile

Kaposi sarcoma

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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ICD-10

C46.0 C46.1 C46.2 C46.3 C46.7 C46.8 C46.9

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)

Kaposi's sarcoma; Mediterranean Kaposi sarcoma; Non AIDS related Kaposi sarcoma;

Categories

Blood Diseases; Congenital and Genetic Diseases; Rare Cancers;

Summary

Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing.[1] Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8).[2] Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS).[3] Options for treatment may include local therapy, radiation therapy, chemotherapy and biologic therapy (immunotherapy). The main aim is to restore immunity.[4]

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
100% of people have these symptoms
Recurrent herpes
Susceptibility to herpesvirus
0005353
80%-99% of people have these symptoms
Abnormality of the lower limb
Lower limb deformities
0002814
Hypermelanotic macule
Hyperpigmented spots
0001034
Neoplasm of the skin
Skin tumors
Tumor of the skin

[ more ]

0008069
30%-79% of people have these symptoms
Abnormal retinal morphology
Retina issue
0000479
Abnormality of the gastrointestinal tract
0011024
Abnormality of the spleen
0001743
Encephalopathy
0001298
Generalized lymphadenopathy
Generalized swelling of lymph nodes
Swollen lymph nodes affecting all regions of the body

[ more ]

0008940
Hemangioma
Strawberry mark
0001028
Immunodeficiency
Decreased immune function
0002721
Lymphoproliferative disorder
0005523
Papule
0200034
Skin nodule
0200036
5%-29% of people have these symptoms
Abnormal lung morphology
Abnormality of lung structure
Abnormality of the lungs
Abnormally shaped lung
Unusal lung shape

[ more ]

0002088
Abnormality of the liver
Abnormal liver
Liver abnormality

[ more ]

0001392
Diarrhea
Watery stool
0002014
Fatigue
Tired
Tiredness

[ more ]

0012378
Fever
0001945
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Skin plaque
0200035
Skin rash
0000988
Venous insufficiency
Poorly functioning veins
0005293
Weight loss
0001824
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Edema
Fluid retention
Water retention

[ more ]

0000969
Kaposi's sarcoma
0100726
Neoplasm
0002664

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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

    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.

    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

      • The American Cancer Society provides information on Kaposi sarcoma. Please click on the link to access this resource.
      • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

        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 Kaposi sarcoma. Click on the link to view a sample search on this topic.

          References

          1. What is Kaposi sarcoma?. American Cancer Society. August, 2014; https://www.cancer.org/cancer/kaposisarcoma/detailedguide/kaposi-sarcoma-what-is-kaposi-sarcoma.
          2. Do we know what causes Kaposi sarcoma?. American Cancer Society. August, 2014; https://www.cancer.org/cancer/kaposisarcoma/detailedguide/kaposi-sarcoma-what-causes.
          3. Rose LJ. Kaposi Sarcoma. Medscape Reference. April 16, 2015; https://emedicine.medscape.com/article/279734-overview.
          4. How is Kaposi sarcoma treated?. American Cancer Society. August 2014; https://www.cancer.org/cancer/kaposisarcoma/detailedguide/kaposi-sarcoma-treating-general-info.