Felty's syndrome

Title

Other Names:

Felty syndrome; Rheumatoid arthritis, splenomegaly and neutropenia; Familial Felty's syndrome

Categories:

Immune System Diseases; Musculoskeletal Diseases

Summary Summary

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

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Arthralgia	Very frequent (present in 80%-99% of cases)
Arthritis	Very frequent (present in 80%-99% of cases)
Autoimmunity	Very frequent (present in 80%-99% of cases)
Immunodeficiency	Very frequent (present in 80%-99% of cases)
Limitation of joint mobility	Very frequent (present in 80%-99% of cases)
Neutropenia	Very frequent (present in 80%-99% of cases)
Osteolysis	Very frequent (present in 80%-99% of cases)
Subcutaneous nodule	Very frequent (present in 80%-99% of cases)
Synovitis	Very frequent (present in 80%-99% of cases)
Abnormality of lymphocytes	Frequent (present in 30%-79% of cases)
Anemia	Frequent (present in 30%-79% of cases)
Chronic otitis media	Frequent (present in 30%-79% of cases)
Lymphadenopathy	Frequent (present in 30%-79% of cases)
Recurrent pharyngitis	Frequent (present in 30%-79% of cases)
Recurrent pneumonia	Frequent (present in 30%-79% of cases)
Rhinitis	Frequent (present in 30%-79% of cases)
Sinusitis	Frequent (present in 30%-79% of cases)
Splenomegaly	Frequent (present in 30%-79% of cases)
Weight loss	Frequent (present in 30%-79% of cases)
Bone marrow hypocellularity	Occasional (present in 5%-29% of cases)
Cellulitis	Occasional (present in 5%-29% of cases)
Episcleritis	Occasional (present in 5%-29% of cases)
Generalized hyperpigmentation	Occasional (present in 5%-29% of cases)
Hepatomegaly	Occasional (present in 5%-29% of cases)
Irregular hyperpigmentation	Occasional (present in 5%-29% of cases)
Lymphoma	Occasional (present in 5%-29% of cases)
Pericarditis	Occasional (present in 5%-29% of cases)
Peripheral neuropathy	Occasional (present in 5%-29% of cases)
Pleuritis	Occasional (present in 5%-29% of cases)
Pulmonary fibrosis	Occasional (present in 5%-29% of cases)
Recurrent urinary tract infections	Occasional (present in 5%-29% of cases)
Sepsis	Occasional (present in 5%-29% of cases)
Thrombocytopenia	Occasional (present in 5%-29% of cases)
Autosomal dominant inheritance	-
Rheumatoid arthritis	-

Last updated: 9/1/2017

Cause Cause

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

Inheritance Inheritance

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

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Research Research

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 studying or have studied 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.

Organizations 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

Arthritis Foundation
P.O. Box 7669
Atlanta, GA 30357-0669
Toll-free: 800-283-7800
E-mail: http://www.arthritis.org/EMF/email.asp
Website: http://www.arthritis.org
The Arthritis Society
393 University Avenue, Suite 1700
Toronto, Ontario M5G 1E6
Canada
Telephone: 416-979-7228
Fax: 416-979-8366
E-mail: info@arthritis.ca
Website: http://www.arthritis.ca

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue
Eastpointe, MI 48021
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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 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.

News & Events News & Events

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My husband was diagnosed with Felty's syndrome and died a few months later. Is Felty's syndrome inherited? I am concerned that my son is at risk for having the condition. See answer

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References References

Felty Syndrome. National Organization for Rare Disorders (NORD). 2006; http://rarediseases.org/rare-diseases/felty-syndrome/.
Richard M Keating. Felty syndrome. Medscape Reference. February 2014; http://emedicine.medscape.com/article/329734-overview.
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.
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.
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.