Rare Endocrinology News

Disease Profile

Rheumatic Fever

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

Childhood

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ICD-10

I00 I01.0 I01.1 I01.2 I01.8 I01.9

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)

Acute Rheumatic Fever; Inflammatory Rheumatism

Categories

Bacterial infections

Summary

Rheumatic fever is an inflammatory condition that may develop after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. It is primarily diagnosed in children between the ages of 6 and 16 and can affect the heart, joints, nervous system and/or skin. Early signs and symptoms include sore throat; swollen red tonsils; fever; headache; and/or muscle and joint aches. Some affected people develop rheumatic heart disease, which can lead to serious inflammation and scarring of the heart valves.[1][2][3] It is not clear why some people who are infected with group A Streptococcus bacteria go on to develop rheumatic fever, while others do not; however, it appears that some families may have a genetic susceptibility to develop the condition.[4][5] Treatment usually includes antibiotics and/or anti-inflammatory medications.[2][6]

Symptoms

Rheumatic fever is primarily diagnosed in children between the ages of 6 and 16 and can affect many different systems of the body, including the heart, joints, nervous system and/or skin. The condition usually develops approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. Early signs and symptoms may include sore throat; swollen red tonsils; fever; headache; and/or muscle aches. Affected people may also experience:[1][2][3]

  • Abdominal pain
  • Rheumatic heart disease
  • Joint pain and/or swelling
  • Nosebleeds
  • Skin nodules (painless, firm, round lumps underneath the skin)
  • Skin rash
  • Sydenham chorea (abrupt, non-repetitive limb movements and grimaces)

People with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition. This can cause progressive (worsening over time) heart damage.[1][2]

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
Percent of people who have these symptoms is not available through HPO
Abnormality of the immune system
Immunological abnormality
0002715
Autosomal recessive inheritance
0000007
Fever
0001945

Cause

Rheumatic fever is an inflammatory condition that may develop approximately 14-28 days after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever.[3] About 5% of those with untreated strep infection will develop rheumatic fever. Although group A Streptococcus bacterial infections are highly contagious, rheumatic fever is not spread from person to person.[1] The exact underlying cause of the condition is not well understood and it is unclear why some people with strep infections go on to develop rheumatic fever, while others do not. However, some scientists suspect that an exaggerated immune response in genetically susceptible people may play a role in the development of the condition.[2][7]

Diagnosis

A diagnosis of rheumatic fever is usually based on the following:[2][8]

The diagnosis can also be supported by blood tests that confirm the presence of certain proteins that increase in response to inflammation (called acute-phase reactants) and tend to be elevated in rheumatic fever. Additional tests may be recommended to rule out other conditions that cause similar features.[8][1][2][3]

Treatment

Treatment of rheumatic fever usually consists of antibiotics to treat the underlying group A Streptococcus bacterial infection and anti-inflammatory medications such as aspirin or corticosteroids. Because people with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition, low dose antibiotics are often continued over a long period of time to prevent recurrence.[1][2][3][6]

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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The Merck Manual provides information on this condition for patients and caregivers.
      • 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 Merck Manual for health care professionals provides information on Rheumatic Fever.
        • 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 Rheumatic Fever. Click on the link to view a sample search on this topic.

          References

          1. Rheumatic Fever. NORD. April 2009; https://rarediseases.org/rare-disease-information/rare-diseases/byID/469/viewAbstract.
          2. Mark R Wallace, MD, FACP, FIDSA. Rheumatic Fever. Medscape Reference. March 2014; https://emedicine.medscape.com/article/236582-overview.
          3. Rheumatic fever. MedlinePlus. May 2012; https://www.nlm.nih.gov/medlineplus/ency/article/003940.htm.
          4. Engel ME, Stander R, Vogel J, Adeyemo AA, Mayosi BM. Genetic susceptibility to acute rheumatic fever: a systematic review and meta-analysis of twin studies. PLoS One. 2011; 6(9):1-6.
          5. Bryant PA, Smyth GK, Gooding T, Oshlack A, Harrington Z, Currie B, Carapetis JR, Robins-Browne R, Curtis N. Susceptibility to acute rheumatic fever based on differential expression of genes involved in cytotoxicity, chemotaxis, and apoptosis. Infect Immun. February 2014; 82(2):753-761.
          6. Allan Gibofsky, MD, JD, FACP, FCLM; John B Zabriskie, MD. Treatment and prevention of acute rheumatic fever. UpToDate. October 2013; Accessed 1/11/2015.
          7. RHEUMATIC FEVER-RELATED ANTIGEN. OMIM. June 2009; https://www.omim.org/entry/268240.
          8. Allan Gibofsky, MD, JD, FACP, FCLM; John B Zabriskie, MD. Clinical manifestations and diagnosis of acute rheumatic fever. UpToDate. October 2013; Accessed 1/12/2015.

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