TNF receptor associated periodic syndrome
(Redirected from TRAPS)
| TNF receptor associated periodic syndrome | |
|---|---|
| |
| Synonyms | Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome |
| Pronounce | |
| Field | |
| Symptoms | |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | Mutations in the TNFRSF1A gene[1] |
| Risks | |
| Diagnosis | Blood test, Genetic test[2][3] |
| Differential diagnosis | |
| Prevention | |
| Treatment | Corticosteroids, NSAIDS [4] |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
TNF receptor associated periodic syndrome (TRAPS[5]) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, joint/muscle aches and puffy eyes.[5][6]
Symptoms and signs[edit | edit source]
TNF receptor associated periodic syndrome presents with the following signs and symptoms:[4]
- Episodic fever
- Elevated erythrocyte sedimentation rate
- Pericarditis
- Splenomegaly
- Uveitis
- Vertigo
Cause[edit | edit source]
TNF receptor associated periodic syndrome is autosomal dominant, and about 70 mutations of the TNFRSF1A gene have been linked to this condition.[7] Its cytogenetic location is at 12p13.31.[8]
Mechanism[edit | edit source]
The main source of TNF (tumor necrosis factor) are cells in the immune system called macrophages which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in initiation of inflammation.[9]
Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene;[10] the mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still unknown. Impaired shedding of the TNF receptor is one of the possible defects, most mutations affect the extracellular domain of the receptor, some also the cleavage site. [medical citation needed]
Diagnosis[edit | edit source]
The diagnosis of TRAPS may show an increased IgD level in a possibly affected individual, other methods to ascertain a definite finding is via the following:[2][3]
- Blood test
- Genetic test
- Clinical evaluation
Treatment[edit | edit source]
In terms of treatment for TNF receptor associated periodic syndrome, corticosteroids can be administered for the reduction of the severity of this condition, NSAIDS may be used for fever.[4]
Research[edit | edit source]
Several medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept, and infliximab,[11]
See also[edit | edit source]
References[edit | edit source]
- ↑ Reference, Genetics Home. "TRAPS". Genetics Home Reference. Retrieved 3 January 2018.
- ↑ 2.0 2.1 "TNF receptor-associated periodic fever syndrome (TRAPS) - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 22 June 2017.
- ↑ 3.0 3.1
- ↑ 4.0 4.1 4.2 "Tumor necrosis factor receptor-associated periodic syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 22 June 2017.
- ↑ 5.0 5.1 subscription needed
- ↑ Liaison, Janet Austin, Office of Communications and Public (21 April 2017). "Autoinflammatory Diseases". www.niams.nih.gov. Retrieved 22 June 2017.
{{cite web}}: CS1 maint: multiple names: authors list (link) - ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Tumor necrosis factor receptor 1 associated periodic syndrome". www.orpha.net. Retrieved 22 June 2017.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ↑ "OMIM Gene Map - Chromosome: 12". omim.org. Retrieved 22 June 2017.
- ↑
- ↑ "TNFRSF1A TNF receptor superfamily member 1A [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 22 June 2017.
- ↑ subscription needed
Further reading[edit | edit source]
External links[edit | edit source]
| Classification |
|
|---|---|
| External resources |
|
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
