Periodic fever syndromes and amyloidosis


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 Inclusion criteria:

  • Biopsy proven amyloid deposition in any organ OR
  • Recurrent or continuous attacks of systemic inflammation with evidence of a significantly raised CRP (> 30 mg/L with attacks) and at least 2 of the following features: onset before age 40, family history of similar symptoms, rash, fever > 38C, serositis (synovial, peritoneal, pleuritic, pericardial or meningitic), arthralgia/myalgia, arthritis.

Exclusion criteria:

  • Evidence of underlying infectious, autoimmune or malignant cause
  • Paraproteinaemia or haematological dyscrasia
  • Known monogenic cause of periodic fever syndrome or amyloidosis

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes 

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • FGA, apolipoprotein A-I, lysozyme
  • If recurrent or continuous inflammation: MEFV, MVK, TNFRSFIA, NLRP3, NLRP12,

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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