sábado, 23 de febrero de 2019

Felty's syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Felty's syndrome | 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

Felty's syndrome


Other Names:
 
Felty syndrome; Rheumatoid arthritis, splenomegaly and neutropenia; Familial Felty's syndrome
Categories:
 
Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections.[1] Although some individuals with Felty's syndrome are asymptomatic, others can develop serious and life-threatening infections.[2] Symptoms of Felty's syndrome, in addition to those associated with the three conditions stated above, may include fatigue, fever, weight loss, discoloration of patches of skin,[1] mild hepatomegaly (enlarged liver), lymphadenopathy (swelling of lymph nodes), Sjögren syndrome, vasculitis, lower-extremity ulcers, and other findings.[2] The exact cause is unknown, but several risk factors have been proposed, including autoimmunity.[1][2] A few familial cases of the condition have been reported.[3] Treatment typically focuses on controlling the underlying RA; immunosuppressive therapy for RA may improve neutropenia and splenomegaly.[2]
Last updated: 2/21/2016
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 1-5 of 35 | 
Medical TermsOther Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthralgia
Joint pain
0002829 
Arthritis
Joint inflammation
0001369 
Autoimmunity
Autoimmune disease
[ more  ]		0002960 
Immunodeficiency
Decreased immune function
0002721 
Limitation of joint mobility
Decreased joint mobility
[ more  ]		0001376 
Showing 1-5 of 35 | 
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.
The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner.[1] Other proposed risk factors have included:[2]
  • RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis
  • Long-term rheumatoid arthritis
  • Aggressive and erosive synovitis (inflammation of the tissue that lines the joints)
  • HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene)
  • Extra-articular RA manifestations (symptoms that are not joint-related)
Last updated: 2/21/2016
It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition itself may not be inherited, some of the risk factors associated with Felty's syndrome may have genetic components. One study found that a family history of rheumatoid arthritis was more common in patients with Felty's syndrome and that there was a strong association with HLA-DR4 (an immune system gene common in individuals with RA). The authors also stated that there was an increased frequency of another gene as well, suggesting that certain other immune system genes may interact with HLA-DR4 and contribute to individuals developing Felty's syndrome.[4]

In another report, the authors described a family in which 3 siblings had Felty's syndrome. All of the siblings shared a specific haplotype (a group of immune system genes that may be inherited together). The authors stated that they believe this supports the theory that multiple genetic factors are involved in family members being predisposed to Felty's syndrome.[3]

An earlier article described a family in which the mother and 2 of her 5 children had Felty's syndrome, which suggested autosomal dominant inheritance (which has not otherwise been reported).[5]
Last updated: 2/21/2016
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

    Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
    Conditions with similar signs and symptoms from Orphanet
    FS differs from RA by more severe arthritis and extra-articular manifestations. Differential diagnosis of FS also includes large granular lymphocyte (LGL) leukemia (when associated with RA, called pseudo Felty), RA, systemic lupus erythematosus (SLE), Still's disease, articular brucellosis, and chronic bacterial endocarditis.
    Visit the Orphanet disease page for more information.
    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 Felty's syndrome. 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 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 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 Felty's syndrome. 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. Felty Syndrome. National Organization for Rare Disorders (NORD). 2006; http://rarediseases.org/rare-diseases/felty-syndrome/.
              2. Richard M Keating. Felty syndrome. Medscape Reference. February 2014; http://emedicine.medscape.com/article/329734-overview.
              3. Runge LA, Davey FR, Goldberg J, Boyd PR. The inheritance of Felty's syndrome in a family with several affected members. Journal of Rheumatology. February 1986; 13(1):39-42. http://www.ncbi.nlm.nih.gov/pubmed/3701742.
              4. Campion G, Maddison PJ, Goulding N, James I, Ahern MJ, Watt I, Sansom D. The Felty syndrome: a case-matched study of clinical manifestations and outcome, serologic features, and immunogenetic associations. Medicine. March 1990; 69(2):69-80. http://www.ncbi.nlm.nih.gov/pubmed/1969604.
              5. Blendis LM, Jones KL, Hamilton EB, Williams R. Familial Felty's syndrome. Annals of the rheumatic diseases. June 1976; 35(3):279-281. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1006555/?tool=pubmed.
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