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Evaluation of the current disease severity scores in paediatric FMF: is it necessary to develop a new one?
Gokhan Kalkan1, Erkan Demirkaya, Cengiz Han Acikel
1FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR), Department of Paediatrics, Pediatric Nephrology and Rheumatology Unit, Gulhane Military Medical Faculty, School of Medicine, 06018 Etlik, Ankara, Turkey.
Insights
Modified adult scoring systems lack consistency for childhood Familial Mediterranean Fever (FMF). Disease severity scores did not correlate with FMF mutation types in pediatric patients, questioning their reliability.
Area of Science:
- Pediatric Rheumatology
- Genetics
- Clinical Scoring Systems
Background:
- Modified adult disease severity scoring systems are increasingly used for pediatric Familial Mediterranean Fever (FMF).
- The reliability of these adapted systems in children with FMF is not well-established.
- Specific FMF mutations are known to be associated with disease severity.
Purpose of the Study:
- To assess the clinical consistency of two common modified adult FMF severity scoring systems in pediatric patients.
- To evaluate the correlation between FMF mutation types and disease severity scores in children.
- To determine the suitability of current scoring systems for pediatric FMF management.
Main Methods:
- Cross-sectional study of 258 children diagnosed with FMF.
- Disease severity assessed using modified Mor et al. and Pras et al. scoring systems.
- Genetic analysis for 15 FMF mutations, grouped by known genotypic-phenotypic associations.
Main Results:
- The two scoring systems demonstrated poor statistical consistency (κ=0.171), even in a subgroup of patients with homozygous mutations (κ=0.125).
- No significant correlation was found between FMF mutation groups and scores from either the Mor et al. or Pras et al. systems.
- Statistical analysis revealed a lack of association between genotype and the assessed disease severity.
Conclusions:
- The evaluated scoring systems show significant inconsistency and lack of correlation with FMF mutation types in children.
- Concerns exist regarding the reliability of these modified adult scoring systems for pediatric FMF.
- Development of a novel, pediatric-specific FMF scoring system based on a prospective registry is warranted.
Objectives:
Modified adult disease severity scoring systems are being used for childhood FMF. We aim to test the clinical consistency of two common severity scoring systems and to evaluate the correlation of scores with the type of FMF mutations in paediatric FMF patients since certain mutations are prone to severe disease.
Methods:
Two hundred and fifty-eight children with FMF were cross-sectionally studied. Assessment of the disease severity was performed by using the modified scoring systems of Mor et al. and Pras et al. Genetic analysis was performed using PCR and restriction endonuclease digestion methods for the presence of 15 FMF gene mutations. FMF mutations were grouped into three based on well-known genotypic-phenotypic associations. Correlation between the mutation groups and the severity scoring systems was assessed. The consistency of the severity scoring systems was evaluated.
Results:
The results of two scoring systems were not statistically consistent with each other (κ = 0.171). This inconsistency persisted even in a more homogeneous subgroup of patients with only homozygote mutations of M694V, M680I and M694I (κ = 0.125). There was no correlation between the mutation groups and either of the scoring systems (P = 0.002, r = 0,196 for scoring systems of Mor et al.; P = 0.009, r = 0.162 for Pras et al.).
Conclusions:
The inconsistency of the two scoring systems and lack of correlation between the scoring systems and mutation groups raises concerns about the reliability of these scoring systems in children. There is a need to develop a scoring system in children based on a prospective registry.
