Autoinflammatory syndromes: diagnosis and management

Sanctis, Sara De; Nozzi, Manuela; Torto, Marianna Del; Sereno, Alessandra; Gaspari, Stefania; Michele, Giuseppina de; Breda, Luciana; Chiarelli, Francesco

doi:10.1186/1824-7288-36-57

Cited by 19 publications

(34 citation statements)

References 51 publications

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“…Familial Mediterranean Fever (FMF) is a prototypic auto-inflammatory disease characterized by recurrent febrile attacks accompanied with inflammation of the serosal membranes and of the skin and is prevalent among Mediterranean populations. The disease is due to mutations of the Mediterranean Fever Gene (MEFV), which is located in the short arm of the chromosome 16 (16p13.3) (De Sanctis et al, 2010;Zadeh et al, 2011). MEFV consists of ten exons and encodes the protein pyrin, which is involved in caspase-1 activation and consequently in interleukin-1β release.…”

Section: Introductionmentioning

confidence: 99%

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

et al. 2014

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Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied by synovial, serosal and/or cutaneous inflammation. Liver involvement has been described mainly in patients with paired FMF gene mutations, i.e. involving both alleles, and rarely in patients heterozygous for FMF mutations. These patients may present with acute or chronic hepatitis, with or without liver failure. Non-alcoholic hepatitis, mild hyperbilirubinemia, and elevation of liver enzymes of unknown etiology should also raise suspicion of FMF. Patients with FMF and liver involvement usually respond to colchicine medication. The mutation I259V (c.775A MEFV gene has not been reported in FMF patients with liver involvement. Furthermore, among several MEFV gene variants, it has been reported so far in only one heterozygous FMF patient of Turkish ancestry presenting with abdominal pain without any hepatic complication. Herein, the second case of a FMF patient heterozygous for the above mentioned mutation is discussed. It is a male child with FMF clinical phenotype which presented two consecutively episodes of acute hepatitis during fever attacks, that spontaneously resolved. Therapeutic trial with colchicine was successful, since no other fever attacks and acute hepatitis episodes were noticed.

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Section: Introductionmentioning

confidence: 99%

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

et al. 2014

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“…The Nijmegen patient registry was initiated in 1992 and holds data on more than 200 patients (http://www.hids.net) [13,14]. Population genetic studies in the Netherlands suggested a disease incidence between 1 in 5,196 and 1 in 53,656.…”

Section: Discussionmentioning

confidence: 99%

“…In children with a suspicion of a periodic fever syndrome, an accurate clinical history and a physical examination remain the first diagnostic tools [14]. Clinical vigilance in combination with a diagnostic strategy including close interaction between clinicians, laboratories, and geneticists is fundamental to diagnose patients with AID [11,27].…”

Section: Discussionmentioning

confidence: 99%

Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

Lainka

Neudorf

Lohse³

et al. 2011

Rheumatol Int

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Autoinflammatory diseases (AIDs) are characterized by recurrent, self-limiting systemic inflammation. Disorders include hereditary recurrent fever (HRF) syndromes such as hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). To determine the incidence of HIDS and report clinical and genetic characteristics together with the underlying MVK genotypes in German children, a prospective active surveillance was conducted in Germany during a period of 3 years. Monthly inquiries were sent to 370 children's hospitals by the German Paediatric Surveillance Unit (Clinic-ESPED, n1) and to two laboratories (Laboratory-ESPED, n2) performing genetic analyses. Inclusion criteria were a MVK mutation-positive patient ≤16 years of age with more than three self-limiting episodes of fever >38.5°C associated with increased inflammation markers. Clinical, epidemiological, and genetic data were assessed via questionnaires. Eight out of 16 patients were identified in Clinic-ESPED (n1) and 15 of 16 in Laboratory-ESPED (n2). Clinical and laboratory surveys overlapped in 7 of 16 cases. Incidence of HIDS was estimated to be 0.39 (95% CI: 0.22, 0.64) per 10(6) person-years. HIDS symptoms generally started in infancy with recurrent fever episodes lasting 3-12 (median, 4.5) days and recurring every 1-12 weeks. Fever was accompanied by abdominal pain, vomiting, diarrhea, cervical lymphadenopathy, and sometimes by headache, skin and joint symptoms. The patients carried 11 different MVK mutations mostly in compound heterozygosity (75%, 12 out of 16). The most frequent mutation was p.Val377Ile (81%, 13 out of 16). In Germany, the incidence of HIDS is very low with 0.39 per 10(6) person-years.

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“…Infliximab may worsen symptoms and should not be used. IL‐1 inhibition may be useful when other agents are ineffective . Up to 25% of those with TRAPS will develop amyloidosis …”

Section: Tnf Receptor‐associated Periodic Syndromementioning

confidence: 99%

Periodic fevers and autoinflammatory syndromes in childhood

Ostring

Singh‐Grewal

2016

J Paediatrics Child Health

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Recurrent fever is a common presentation in paediatric practice and can be caused by a wide variety of diseases including autoinflammatory conditions. The innate immune system plays an essential role in the 'first line' response to infection through mediation of inflammatory responses. Inflammasomes are part of the regulatory process for this system and result in the production of the powerful pro-inflammatory cytokine interleukin-1B. Dysregulation of inflammasomes, and Interleukin 1 production, contributes to the pathogenesis of autoinflammatory diseases. This review focuses on described periodic fever syndromes (PFS) which are now collectively referred to as autoinflammatory syndromes. Conditions discussed include periodic fever aphthous stomatitis pharyngitis and cervical adenopathy, familial Mediterranean fever, tumour necrosis factor receptor-associated periodic syndromes, hyperimmunoglobulinaemia D and the cryopyrin-associated periodic syndromes. Presenting features, complications, diagnostic and treatment approaches for these conditions are discussed. Nonetheless, as most of these conditions are rare and may have significant long-term complications, it is recommended that they be managed in consultations with a physician experienced in managing PFS.

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Autoinflammatory syndromes: diagnosis and management

Cited by 19 publications

References 51 publications

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

Periodic fevers and autoinflammatory syndromes in childhood

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