Guidelines for the genetic diagnosis of hereditary recurrent fevers

Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing. Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.

[1]  H. Ostrer,et al.  Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. , 1999, American journal of human genetics.

[2]  I. Touitou,et al.  A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients , 2006, Annals of the rheumatic diseases.

[3]  R. Keenan,et al.  Application of UKHCDO 2004 guidelines in type 1 von Willebrand Disease ‐ a single centre paediatric experience of the implications of altered or removed diagnosis , 2011, Haemophilia : the official journal of the World Federation of Hemophilia.

[4]  S. Ozen,et al.  Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever , 2006, Current opinion in rheumatology.

[5]  Manfred Stuhrmann,et al.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations , 2009, European Journal of Human Genetics.

[6]  J. Hugot,et al.  Infevers: An evolving mutation database for auto‐inflammatory syndromes , 2004, Human mutation.

[7]  M. Field,et al.  Clinical practice guidelines : directions for a new program , 1990 .

[8]  A. Fabre,et al.  Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes? , 2010, PloS one.

[9]  I. Touitou,et al.  The clinical spectrum of 94 patients carrying a single mutated MEFV allele. , 2009, Rheumatology.

[10]  E. Chouery,et al.  1Novel MEFV transcripts in Familial Mediterranean fever patients and controls , 2010, BMC Medical Genetics.

[11]  J. Yagüe,et al.  An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement , 2009, European Journal of Human Genetics.

[12]  S. Holland,et al.  Familial Mediterranean fever with a single MEFV mutation: where is the second hit? , 2009, Arthritis and rheumatism.

[13]  P. Fietta.  Autoinflammatory diseases: the hereditary periodic fever syndromes. , 2004, Acta bio-medica : Atenei Parmensis.

[14]  I. Touitou,et al.  Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay. , 2009, Human molecular genetics.

[15]  Manuel Ruiz,et al.  INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations , 2003, Nucleic Acids Res..

[16]  Isabelle Touitou,et al.  The spectrum of Familial Mediterranean Fever (FMF) mutations , 2001, European Journal of Human Genetics.

[17]  P Woo,et al.  A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. , 2008, Arthritis and rheumatism.

[18]  J. Meer,et al.  Physiology and Pharmacology of Temperature Regulation Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes , 2006 .

[19]  E. Sohar,et al.  Familial Mediterranean fever. , 1955, Klinische Padiatrie.

[20]  H. Waterham,et al.  The infevers autoinflammatory mutation online registry: update with new genes and functions , 2008, Human mutation.

[21]  D. Barton,et al.  Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis , 2006, BMC Medical Genetics.

[22]  E. Remmers,et al.  The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. , 2007, Arthritis and rheumatism.

[23]  I. Touitou,et al.  Web resources for rare auto-inflammatory diseases: towards a common patient registry. , 2009, Rheumatology.

[24]  S. S. Weinreich,et al.  Orphanet : een Europese database over zeldzame ziekten , 2008 .

[25]  M. Pras,et al.  Clinical disease among patients heterozygous for familial Mediterranean fever. , 2009, Arthritis and rheumatism.

[26]  C. Cazeneuve,et al.  Clinical versus genetic diagnosis of familial Mediterranean fever. , 2000, QJM : monthly journal of the Association of Physicians.

[27]  I. Touitou,et al.  Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres , 2008, European Journal of Human Genetics.

[28]  M. Cornel,et al.  [Orphanet: a European database for rare diseases]. , 2008, Nederlands tijdschrift voor geneeskunde.

[29]  Nadia Rebaya,et al.  Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations , 2005, European Journal of Human Genetics.