sábado, 23 de febrero de 2019

Rheumatic Fever | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Rheumatic Fever | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational SciencesGenetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Rheumatic Fever


Other Names:
 
Acute Rheumatic Fever; Inflammatory Rheumatism
Categories:
 
Rheumatic fever is an inflammatory condition that may develop after infection with group A Streptococcusbacteria, 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]
Last updated: 1/11/2015
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]
Last updated: 1/11/2015
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.
Showing 2 of 2
Medical TermsOther 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 
Fever0001945 
Showing 2 of 2
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.
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]
Last updated: 1/11/2015
Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genesinteracting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions.[4]Some studies suggest that differences in the expression of various genes involved in the immune responsemay contribute to rheumatic fever susceptibility.[5]
Last updated: 1/12/2015
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]
Last updated: 1/12/2015
Treatment of rheumatic fever usually consists of antibiotics to treat the underlying group A Streptococcusbacterial 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]
Last updated: 1/12/2015
The long-term outlook (prognosis) for people with rheumatic fever depends on the severity of the heart involvement at the initial diagnosis. Severe carditis (inflammation of the heart) is associated with a poor prognosis and generally leads to rheumatic heart disease. People with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition, which can cause progressive (worsening over time) heart damage. Prophylactic low dose antibiotics can significantly improve prognosis in many cases by preventing these recurrences.[2][3]
Last updated: 1/12/2015
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

    Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

    Clinical Research Resources

    • ClinicalTrials.gov lists trials that are related to Rheumatic Fever. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. 

      Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
      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

          Do you know of an organization? We want to hear from you.
          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.
              Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
              Have a question? Contact a GARD Information Specialist.
              1. Rheumatic Fever. NORD. April 2009; http://rarediseases.org/rare-disease-information/rare-diseases/byID/469/viewAbstract.
              2. Mark R Wallace, MD, FACP, FIDSA. Rheumatic Fever. Medscape Reference. March 2014; http://emedicine.medscape.com/article/236582-overview.
              3. Rheumatic fever. MedlinePlus. May 2012; http://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; http://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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