Don’t send periodic fever syndrome genetic panels prior to infectious and oncologic workup or in a patient without clear evidence of recurrent fever.
|Rationale and Comments:||Fever is a common complaint in the pediatric age group with infectious etiology as the most common followed by malignancy. Thorough history and physical exam in addition to diligent documentation of fever and accompanying symptoms can often help define underlying etiology, minimizing as well as targeting additional workup. Of note, most children with a periodic fever syndrome do not have a genetic mutation, and the most common periodic fever syndrome – PFAPA (periodic fever, adenitis, pharyngitis, aphthous ulcer) – is not associated with a monogenic mutation.|
|References:||• Antoon J, Peritz D, Parsons M, Skinner A, Lohr J. Etiology and resource use of fever of unknown origin in hospitalized children. Hosp Pediatr. 2018;8(3):135-140.
• Antoon J, Potisek N, Lohr J. Pediatric fever of unknown origin. Pediatr Rev. 2015;36(9):380-390.
• Chusid M. Fever of unknown origin in childhood. Pediatr Clin North Am. 2017;64(1):205-230.
• Gattorno M, Sormani M, D’Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008;58(6):1823-1832.
• Tchernitchko D, Moutereau S, Legendre M, et al. Mefv analysis is of particularly weak diagnostic value for recurrent fevers in western European Caucasian patients. Arthritis Rheum. 2005;52(11):3603-3605.