Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center

• DOI: 10.1007/s00296-019-04463-w
• Publication Date: 2019-10-23T17:26:23Z
• Authors: Ayşe Tanatar; Hafize Emine Sönmez; Şerife Gül Karadağ; Figen Çakmak; Mustafa Çakan; Ferhat Demir; Betül Sözeri; Nuray Aktay Ayaz
• Keywords: Male; Chest Pain; Heterozygote; Adolescent; Arthritis; Hereditary Autoinflammatory Diseases; Homozygote; Drug Resistance; Reproducibility of Results; Exons; Pyrin; Familial Mediterranean Fever; 3. Good health; Consanguinity; 03 medical and health sciences; 0302 clinical medicine; Case-Control Studies; Child, Preschool; Mutation; Humans; Female; Child; Colchicine

Until now, the diagnosis of familial Mediterranean fever (FMF) was based on validated subsets of clinical criteria, but recently new Eurofever/PRINTO classification criteria concerning genetic analyses were proposed. The study aimed to compare the performances of three validated diagnostic criteria (Tel-Hashomer, Livneh, pediatric criteria) and new Eurofever/PRINTO classification criteria. The medical charts of study and control groups were reviewed retrospectively. Patients were evaluated for three diagnostic criteria and new Eurofever/PRINTO classification criteria. Control group consists of patients with other autoinflammatory diseases. A total of 1291 patients were classified into three groups according to their mutations: group 1: 447 patients with homozygous mutations; group 2: 429 patients with compound heterozygous mutations; and group 3: 415 patients with one heterozygous mutation. Similar diagnostic utility was found according to Livneh criteria between groups. But, proportion of patients fulfilling Tel-Hashomer and pediatric criteria was higher in groups 1 and 2. According to Eurofever/PRINTO criteria, 98.2% of patients with homozygous mutations, 94.2% of patients with compound heterozygous mutations and 80.2% of patients with heterozygous mutations were classified as FMF. In control group, 99.2% of them fulfilled the Livneh criteria, 66.9% met the pediatric criteria and 0.8% satisfied the Tel-Hashomer criteria, while none of control patients met the Eurofever/PRINTO classification criteria. Performances of three validated diagnostic criteria and new Eurofever/PRINTO classification criteria for FMF were similar and provide high utility in diagnosing/classifying patients with homozygous and compound heterozygous mutations. However, both Eurofever/PRINTO classification criteria and Tel-Hashomer criteria had significantly lower performance in heterozygous patients.