Disease Profile

Felty’s syndrome

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

Adult

ageofonset-adult.svg

ICD-10

M05.0

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

no.svg

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.

no.svg

X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other Names (AKA)

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

Categories

Immune System Diseases; Musculoskeletal Diseases

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]

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
80%-99% of people have these symptoms
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Immunodeficiency
Decreased immune function
0002721
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875
Osteolysis
Breakdown of bone
0002797
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
Synovitis
0100769
30%-79% of people have these symptoms
Abnormal lymphocyte morphology
0004332
Anemia
Low number of red blood cells or hemoglobin
0001903
Chronic otitis media
Chronic infections of the middle ear
0000389
Lymphadenopathy
Swollen lymph nodes
0002716
Recurrent pharyngitis
Recurrent sore throat
0100776
Recurrent pneumonia
0006532
Rhinitis
Nasal inflammation
0012384
Sinusitis
Sinus inflammation
0000246
Splenomegaly
Increased spleen size
0001744
Weight loss
0001824
5%-29% of people have these symptoms
Bone marrow hypocellularity
Bone marrow failure
0005528
Cellulitis
Bacterial infection of skin
Skin infection

[ more ]

0100658
Episcleritis
Inflammation of the thin layer on top of the white part of eye
0100534
Generalized hyperpigmentation
0007440
Hepatomegaly
Enlarged liver
0002240
Irregular hyperpigmentation
0007400
Lymphoma
Cancer of lymphatic system
0002665
Pericarditis
Swelling or irritation of membrane around heart
0001701
Peripheral neuropathy
0009830
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
Pulmonary fibrosis
0002206
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
Sepsis
Infection in blood stream
0100806
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Rheumatoid arthritis
0001370

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)

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 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.

          References

          1. Felty Syndrome. National Organization for Rare Disorders (NORD). 2006; https://rarediseases.org/rare-diseases/felty-syndrome/.
          2. Richard M Keating. Felty syndrome. Medscape Reference. February 2014; https://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. https://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. https://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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1006555/?tool=pubmed.