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Comparison of diagnostic criteria for children with familial Mediterranean fever

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Abstract

Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever and serositis. Diagnosis is made according to clinical findings and supported by genetic analysis. The most commonly used adult diagnostic criteria are the Tel-Hashomer criteria. Pediatric criteria for FMF diagnosis were described in 2009, but their reliability should be supported by additional reports. In this study, we aimed to compare the pediatric criteria and the Tel-Hashomer and 2019 Eurofever/PRINTO classification criteria using our FMF cohort. A total of 113 patients diagnosed with FMF were included. Demographic features and laboratory findings were retrospectively collected from the patients’ files. The patients were evaluated with the Tel-Hashomer, pediatric and Eurofever/PRINTO classification criteria. At least two of five new pediatric criteria were as sensitive (89%) and specific (85%) as the Tel-Hashomer criteria (sensitivity 70%, specificity 96%). We also evaluated the Eurofever/PRINTO classification criteria using our cohort and found a sensitivity of 94% and specificity of 91%.

   Conclusion: Using pediatric criteria for the diagnosis of FMF in children is a feasible and simple approach that can diagnose the disease based on at least two criteria. Therefore, our study supports the use of pediatric criteria in FMF diagnosis of children. Our results also confirm that the Eurofever/PRINTO classification criteria can be successfully applied for the diagnosis of FMF due to their high sensitivity (94%) and specificity (91%).

What is Known:

• The FMF diagnosis is made according clinical findings and supported by genetic analysis.

• The use of adult diagnostic criteria in pediatric FMF patients is controversial since classical clinical presentation is often absent in children.

What is New:

• Our study supports both the use of pediatric criteria and Eurofever/PRINTO classification criteria in clinical practice.

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Data are available on request from the authors.

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Abbreviations

CAPS:

Cryopyrin-associated periodic syndrome

FMF:

Familial Mediterranean fever

HIDS:

Hyperimmunoglobulin D syndrome

NPV:

Negative predictive values

PFAPA:

Periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome

PPV:

Positive predictive values

SPSS:

Statistical Package for the Social Sciences

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Authors and Affiliations

  1. School of Medicine, Department of Pediatric Nephrology, Manisa Celal Bayar University, Manisa, Turkey

    Esra Nagehan Akyol Onder

  2. Department of Neonatology, Gaziosmanpaşa Training and Research Hospital, Istanbul, Turkey

    Kudret Ebru Ozcan

  3. Department of Medical Genetics, School of Medicine, Baskent University, Ankara, Turkey

    Feride Iffet Sahin

  4. Department of Pediatric Nephrology and Rheumatology, Baskent University, Ankara, Turkey

    Kaan Savas Gulleroglu & Esra Baskin

Authors
  1. Esra Nagehan Akyol Onder
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  2. Kudret Ebru Ozcan
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  3. Feride Iffet Sahin
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  4. Kaan Savas Gulleroglu
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  5. Esra Baskin
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Contributions

The lead author is Esra Nagehan Akyol Onder. Author Esra Nagehan Akyol Onder contributed to researching data for the article; the authors Esra Nagehan Akyol Onder and Esra Baskin contributed to discussion of its content, writing, and reviewing; and authors Kudret Ebru Ozcan and Kaan Savas Gulleroglu contributed to editing of the manuscript before submission. Author Feride Iffet Sahin performed the genetic analyses of the patients.

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Correspondence to Esra Nagehan Akyol Onder.

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The authors declare no competing interests.

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Communicated by Gregorio Paolo Milani

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Akyol Onder, E.N., Ozcan, K.E., Sahin, F.I. et al. Comparison of diagnostic criteria for children with familial Mediterranean fever. Eur J Pediatr 181, 1661–1667 (2022). https://doi.org/10.1007/s00431-021-04370-y

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  • DOI: https://doi.org/10.1007/s00431-021-04370-y

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