Genetic Analysis as a Valuable Key to Diagnosis and Treatment of Periodic Fever

Simon, Anna; Deuren, Marcel van; Tighe, Patrick J.; Meer, J.W.M. van der; Drenth, Joost P.H.

doi:10.1001/archinte.161.20.2491

Cited by 28 publications

(13 citation statements)

References 17 publications

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“…Symptoms can occur in children some years before the elevation of serum IgD concentration is found, and IgD concentrations do not correlate with disease activity or severity. In addition, a number of mutation-positive patients have a normal concentration of IgD, and occasional patients with other recurrent fever syndromes have modestly elevated serum IgD (116). …”

Section: Il-1β Activation Disorders (Inflammasomopathies)mentioning

confidence: 99%

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

Masters

Simon

Aksentijevich

et al. 2009

Annu. Rev. Immunol.

984

750

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The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was proposed ten years ago with the identification of the genes underlying hereditary periodic fever syndromes. This nosology has taken root because of the dramatic advances in our knowledge of the genetic basis of both mendelian and complex autoinflammatory diseases, and with the recognition that these illnesses derive from genetic variants of the innate immune system. Herein we propose an updated classification scheme based on the molecular insights garnered over the past decade, supplanting a clinical classification that has served well but is opaque to the genetic, immunologic, and therapeutic interrelationships now before us. We define six categories of autoinflammatory disease: IL-1β activation disorders (inflammasomopathies), NF-κB activation syndromes, protein misfolding disorders, complement regulatory diseases, disturbances in cytokine signaling, and macrophage activation syndromes. A system based on molecular pathophysiology will bring greater clarity to our discourse while catalyzing new hypotheses both at the bench and at the bedside.

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Section: Il-1β Activation Disorders (Inflammasomopathies)mentioning

confidence: 99%

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

Masters

Simon

Aksentijevich

et al. 2009

Annu. Rev. Immunol.

984

750

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“…Urticarial rash and episodic fever are also key elements of Schnitzler's syndrome, a nonhereditary episodic fever syndrome with onset later in life [48]. Knowledge of these rare syndromes and modern genetic analysis has resulted in eventual diagnosis in patients suffering from episodic fever for more than 50 years [110]. New insights in the pathogenesis may also result in specific therapy, such as the use of etanercept (recombinant soluble TNF receptor) in TRAPS, with resultant prolonged remission [110, 111].…”

Section: Episodic Fuomentioning

confidence: 99%

Fever of unknown origin in adults: 40 years on

Knockaert

Vanderschueren

Blockmans

2003

Journal of Internal Medicine

233

136

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A revision of the criteria of fever of unknown origin (FUO), established in 1961, is desirable because of important evolutions in medical practice and the emergence of new patient populations. The development of rapid laboratory tests and powerful diagnostic tools, such as ultrasonography, computed tomography and magnetic resonance imaging often makes hospitalization unnecessary and new categories of patients such as those with HIV infection, neutropenia, immunosuppression and nosocomial illness require an approach different from classical FUO. The more then 200 reported causes of FUO can be classified into four diagnostic categories; infections, tumours, noninfectious inflammatory diseases (NIID) and miscellaneous. A uniform classification system is highly wanted to allow comparison between different series. The reports of the 1990s show slight changes in the distribution of causes, namely less infections, less tumours, more NIID and more undiagnosed cases. A uniform diagnostic strategy cannot be determined. The initial investigation should be directed by potentially diagnostic clues revealed by extensive history, meticulous physical examination and a standard set of laboratory tests.18 Fluoro-deoxy-glucose-positron-emittedtomgraphy is a new valuable total body scintigraphy in the search for the site of origin of the fever. In view of the rather good long-term prognosis, a wait-andsee strategy may be more appropriate than a systematic staged approach. Elderly patients and patients with episodic fever represent two specific groups of classical FUO that require a distinct approach. HIVassociated, nosocomial and neutropenic FUO should be considered as separate clinical entities.

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“…The first question concerns "pretest probability" of disease or genetic mutation and typically arises as a result of unexplained symptoms (eg, periodic fever as found in tumor necrosis factor receptor-associated periodic syndrome 8 and episodic cutaneous angioedema or abdominal pain as found in hereditary angioedema 9 ) or family history (eg, Huntington's disease or hereditary breast/ ovarian cancer 10 ). The degree to which unexplained symptoms fit a particular clinical syndrome is an indication for genetic testing, and articles in this issue of the ARCHIVES address the nature and clarity of such syndromes.…”

Section: Who Should Be Tested?mentioning

confidence: 99%

Genetic Testing and Medical Decision Making

Reyna¹

2001

Archives of Internal Medicine

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A S ILLUSTRATED in this issue of the ARCHIVES, genetic testing is an increasingly informative tool in the diagnosis, prevention, and treatment of disease. The usefulness of this tool, however, hinges on its transparency in the clinical setting. Results of research 1-7 indicate that clinicians will experience predictable difficulties in interpreting probabilities associated with genetic testing, indeed with testing generally. These difficulties can be avoided by following the guidelines herein. With respect to these difficulties, genetic testing can be divided into 2 phases corresponding to the following questions: (1) Who should be tested? and (2) How should the test result be interpreted?

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Genetic Analysis as a Valuable Key to Diagnosis and Treatment of Periodic Fever

Cited by 28 publications

References 17 publications

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

Fever of unknown origin in adults: 40 years on

Genetic Testing and Medical Decision Making

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