TNF receptor associated periodic syndrome
(Redirected from Hibernian fever, familial)
TNF receptor associated periodic syndrome (TRAPS[1]) 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.[1][2]
Symptoms and signs[edit | edit source]
TNF receptor associated periodic syndrome presents with the following signs and symptoms:[3]
- 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.[4] Its cytogenetic location is at 12p13.31.[5]
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.[6]
Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene;[7] 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:[8][9]
- 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.[3]
Research[edit | edit source]
Several medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept, and infliximab,[10]
See also[edit | edit source]
References[edit | edit source]
- ↑ 1.0 1.1 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) - ↑ 3.0 3.1 "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.
- ↑ 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.
- ↑ "TNF receptor-associated periodic fever syndrome (TRAPS) - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 22 June 2017.
- ↑
- ↑ subscription needed
Further reading[edit | edit source]
External links[edit | edit source]
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