Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Peter B McNaughtonSophie WillcocksSu Han LumBen WhiteheadJane PeakeKahn PreecePublished in: Journal of paediatrics and child health (2021)
The European classification criteria can form a potentially useful tool to guide diagnosis; however, clinical judgement remains essential, because the score is often positive for multiple diagnoses. The diagnostic yield of genetic testing in this cohort was low and genetic testing may be more useful to confirm a strong clinical suspicion than to clarify a diagnosis for patients with less clear symptoms.