autosomal dominant familial Periodic fever

An inherited condition characterized by recurrent episodes of FEVER; onset is typically in early childhood. Fevers usually persist for about three weeks, though they can be longer or shorter, and may not occur again for several weeks or several years. Other symptoms may include ABDOMINAL PAIN; MYALGIA; ARTHRALGIA; SKIN RASH and systemic INFLAMMATION; AMYLOIDOSIS may also occur in some cases. There is often no trigger, but episodes are sometimes preceded by infections, injury, or stress. Germline mutations in the TNFRSF1A gene have been identified. OMIM: 142680

Also Known As:

Networked: 162 relevant articles (8 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mevalonate Kinase Deficiency
2.	Familial Mediterranean Fever (Periodic Disease)
3.	Cryopyrin-Associated Periodic Syndromes
4.	Fever (Fevers)
5.	Necrosis

Experts

1.	Cantarini, Luca: 15 articles (01/2021 - 08/2011)
2.	Rigante, Donato: 14 articles (01/2021 - 08/2011)
3.	Powell, Richard J: 10 articles (11/2017 - 09/2002)
4.	Todd, Ian: 10 articles (11/2017 - 08/2004)
5.	Vitale, Antonio: 9 articles (01/2021 - 11/2012)
6.	Tighe, Patrick J: 9 articles (11/2017 - 08/2004)
7.	Frediani, Bruno: 7 articles (01/2021 - 11/2012)
8.	Obici, Laura: 7 articles (01/2021 - 03/2006)
9.	Galeazzi, Mauro: 7 articles (07/2017 - 06/2012)
10.	Gattorno, Marco: 7 articles (01/2017 - 03/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to autosomal dominant familial Periodic fever:

1.	Etanercept (Enbrel)FDA Link 03/01/2012 - "Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study." 01/01/2014 - "Modified regimen of etanercept for tumor necrosis factor receptor associated periodic syndrome (TRAPS) like illness." 08/01/2012 - "Successful treatment of a patient with tumor necrosis factor receptor-associated periodic syndrome using a half-dose of etanercept." 07/01/2010 - "Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature." 12/01/2008 - "TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept."
2.	Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link 05/01/2008 - "Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome." 07/01/2017 - "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." 04/01/2017 - "Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant." 01/01/2013 - "Anakinra, a recombinant human interleukin-1β receptor antagonist, is a promising new biologic agent for the treatment of autoinflammatory diseases such as cryopyrinopathies, tumor necrosis factor receptor-associated periodic syndrome, and hyperimmunoglobulinemia D with periodic fever syndrome. " 09/01/2011 - "Failure of sustained response to etanercept and refractoriness to anakinra in patients with T50M TNF-receptor-associated periodic syndrome."
3.	canakinumabFDA Link 09/05/2023 - "To assess efficacy, safety, and tolerability of canakinumab in patients with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) during a 72-week long-term, open-label extension of the CLUSTER study. " 09/05/2023 - "Long-term efficacy/safety of canakinumab in patients with tumor necrosis factor receptor-associated periodic syndrome: results from a phase III trial." 01/01/2017 - "Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study." 01/01/2017 - "Canakinumab for the treatment of TNF-receptor associated periodic syndrome." 05/01/2015 - "Delights and let-downs in the management of tumor necrosis factor receptor-associated periodic syndrome: the canakinumab experience in a patient with a high-penetrance T50M TNFRSF1A variant."
4.	Interleukin-1 (Interleukin 1)IBA 01/01/2017 - "The understanding of pathogenesis of TNF-receptor-associated periodic syndrome led to realize why TRAPS patients respond to IL-1 inhibition. " 11/01/2012 - "Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. " 11/01/2012 - "However the increasing frequency of fever episodes or the development of a chronic disease course may require a continuous long-term treatment, with anti-TNF or IL-1 blockers in mevalonate kinase deficiency and TNF-receptor associated periodic syndrome. " 10/28/2023 - "Familial Mediterranean Fever (FMF), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), Mevalonate-Kinase Deficiency (MKD), nucleotide-binding oligomerization domain 2 (NOD2)-associated autoinflammatory syndrome, and others are closely related to IRP based on similar clinical manifestations and treatment responses to anti-interleukin 1 (IL-1) agents, such as anakinra, and should therefore be excluded in patients with IRP. "
5.	tocilizumab (atlizumab)FDA Link 03/01/2015 - "Successful treatment of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with tocilizumab: A case report." 11/01/2015 - "Canakinumab efficacy and long-term tocilizumab administration in tumor necrosis factor receptor-associated periodic syndrome (TRAPS)." 01/01/2015 - "A Case Presenting with the Clinical Characteristics of Tumor Necrosis Factor (TNF) Receptor-associated Periodic Syndrome (TRAPS) without TNFRSF1A Mutations Successfully Treated with Tocilizumab." 04/01/2011 - "In this report, we describe treatment outcomes in the first case of a patient with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) treated with the anti-interleukin-6 (anti-IL-6) receptor monoclonal antibody tocilizumab. " 04/01/2011 - "Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab."
6.	Interleukin-1beta (Interleukin 1 beta)IBA 06/01/2006 - "The availability of biologic response modifiers such as inhibitors of tumour necrosis factor (TNF) and interleukin-1beta has greatly improved the outlook for some of these disorders, although effective therapies remain elusive in patients with certain conditions, including hyperimmunoglobulinaemia-D with periodic fever syndrome (HIDS) and a proportion of those with TNF-receptor associated periodic syndrome (TRAPS). " 09/01/2005 - "Recent advances in molecular pathophysiology include the elucidation of the N-terminal PYRIN domain in protein-protein interactions, the description of the NALP3 (cryopyrin) inflammasome as a macromolecular complex for interleukin-1beta activation, and the identification of signaling defects other than defective receptor shedding in patients with tumor necrosis factor receptor-associated periodic syndrome. " 01/01/2007 - "After an introduction on fever, interleukin-1beta and inflammasomes, which are involved in the majority of these diseases, this manuscript offers a detailed review of the pathophysiology of the cryopyrin-associated periodic syndromes, familial Mediterranean fever, the syndrome of pyogenic arthritis, pyoderma gangrenosum and acne, Blau syndrome, TNF-receptor-associated periodic syndrome and hyper-IgD and periodic fever syndrome. "
7.	Monoclonal AntibodiesIBA 04/01/2011 - "In this report, we describe treatment outcomes in the first case of a patient with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) treated with the anti-interleukin-6 (anti-IL-6) receptor monoclonal antibody tocilizumab. " 04/01/2011 - "Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab." 01/01/2021 - "Canakinumab is a fully human monoclonal antibody that specifically neutralizes human interleukin (IL)-1β and has been approved by the US Food and Drug Administration for treating different types of autoinflammatory disorders such as cryopyrin-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome and systemic juvenile idiopathic arthritis. " 03/01/2015 - "In this report, we describe the case of a patient with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) treated successfully with the anti-interleukin-6 (anti-IL-6) receptor monoclonal antibody tocilizumab, while treatment with anti-TNF α etanercept and infliximab had both failed."
8.	Adrenal Cortex Hormones (Corticosteroids)IBA 01/01/2020 - "Treatment of tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) often requires adding a biologic drug to corticosteroids to achieve the best efficacy.Currently" 01/01/2018 - "It was thus confirmed that the copper-glyglycine-prednisolone succinate-loaded NL sludge has significant potential for application in chronic inflammatory conditions such as tumor necrosis factor receptor-associated periodic syndrome (TRAPS), designed to release an effective dose of corticosteroid, as a transdermal drug delivery formulation, for effective therapeutic efficacy."
9.	Infliximab (Remicade)FDA Link 02/01/2009 - "Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome." 03/01/2015 - "In this report, we describe the case of a patient with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) treated successfully with the anti-interleukin-6 (anti-IL-6) receptor monoclonal antibody tocilizumab, while treatment with anti-TNF α etanercept and infliximab had both failed."
10.	Succinic Acid (Succinate)IBA 01/01/2018 - "It was thus confirmed that the copper-glyglycine-prednisolone succinate-loaded NL sludge has significant potential for application in chronic inflammatory conditions such as tumor necrosis factor receptor-associated periodic syndrome (TRAPS), designed to release an effective dose of corticosteroid, as a transdermal drug delivery formulation, for effective therapeutic efficacy."

Therapies and Procedures

1.	Therapeutics 01/01/2021 - "Objective: To describe the role of biotechnological therapies in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) and to identify any predictor of complete response. " 04/01/2010 - "However, with molecular genetic analyses, it could be shown that the patient was in fact affected by tumor necrosis factor receptor-associated periodic syndrome, which requires a different therapy when compared with FMF. " 03/01/2010 - "Sacroileitis and pericarditis: atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy." 06/01/2006 - "The availability of biologic response modifiers such as inhibitors of tumour necrosis factor (TNF) and interleukin-1beta has greatly improved the outlook for some of these disorders, although effective therapies remain elusive in patients with certain conditions, including hyperimmunoglobulinaemia-D with periodic fever syndrome (HIDS) and a proportion of those with TNF-receptor associated periodic syndrome (TRAPS). " 07/01/2008 - "The pivotal roles of interleukin (IL)-1beta in cryopyrin-associated periodic syndromes, tumor necrosis factor (TNF) in TNF receptor-associated periodic syndrome, and links to inflammatory cytokine dysregulation in other monogenic autoinflammatory diseases have resulted in effective therapies targeting proinflammatory cytokines IL-1beta and TNF and uncovered other new potential targets for anti-inflammatory therapies."
2.	First Aid (Aids, First) 01/01/2023 - "The four monogenic AIDs first described are called the 'historical' AIDs and include FMF (associated with MEFV mutations), cryopyrinopathies (associated with NLRP3 mutations), TNF receptor-associated periodic syndrome (associated with TNFRSF1A mutations) and mevalonate kinase deficiency (MKD; associated with MVK mutations). "
3.	Surgical Amputation (Amputations) 12/01/2010 - "Tumor necrosis factor receptor-associated periodic syndrome P46L and bilateral amputation in diabetes."
4.	Aftercare (After-Treatment) 07/01/2020 - "Favorable Outcome after Treatment Using Antibiotics and Hydroxychloroquine in a Patient with Tumor Necrosis Factor Receptor-associated Periodic Syndrome: A 7-Year Follow-Up."