TNF receptor associated periodic syndrome

Symptoms and signs

TNF receptor associated periodic syndrome presents with the following signs and symptoms:

• Episodic fever
• Elevated erythrocyte sedimentation rate
• Pericarditis
• Splenomegaly
• Uveitis
• Vertigo
• AA amyloidosis

Cause

TNF receptor associated periodic syndrome is autosomal dominant, and about 70 mutations of the TNFRSF1A gene have been linked to this condition. Its cytogenetic location is at 12p13.31.

Mechanism

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.

Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene; 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.

Diagnosis

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:

• Blood test
• Genetic test
• Clinical evaluation

Treatment

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.

Research

Several medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept, infliximab, and anakinra.

References

References

1. Reference, Genetics Home. "TRAPS".
2. Rezaei, Nima. (November 2006). "TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder". Clinical Rheumatology.
3. Liaison, Janet Austin, Office of Communications and Public. (21 April 2017). "Autoinflammatory Diseases".
4. "Tumor necrosis factor receptor-associated periodic syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
5. (December 2021). "Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review". Rheumatology (Oxford).
6. RESERVED, INSERM US14 – ALL RIGHTS. "Orphanet: Tumor necrosis factor receptor 1 associated periodic syndrome".
7. "OMIM Gene Map – Chromosome: 12".
8. (2003). "Tumor necrosis factor signaling". Cell Death & Differentiation.
9. "TNFRSF1A TNF receptor superfamily member 1A [Homo sapiens (human)] – Gene – NCBI".
10. "TNF receptor-associated periodic fever syndrome (TRAPS) – Conditions – GTR – NCBI".
11. (21 June 2016). "Kelley and Firestein's Textbook of Rheumatology E-Book". Elsevier Health Sciences.
12. (June 2006). "Hereditary auto-inflammatory disorders and biologics". Springer Semin Immunopathol.
13. (July 2017). "Efficacy and safety of anakinra in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) complicated by severe renal failure: a report after long-term follow-up and review of the literature". Clinical Rheumatology.