{
  "abstract": "Introduction Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease. Colchicine is the first-line treatment, yet 5–10% of patients are resistant, increasing the risk of complications like amyloidosis. In 2023, Batu et al proposed the Turkish Paediatric Autoinflammatory Diseases (TURPAID) score to predict colchicine resistance in paediatric FMF at diagnosis. Its utility in broader populations is unknown. We assessed its performance in paediatric and adult FMF patients from the international Juvenile Inflammatory Rheumatism (JIR) cohort.Methods We retrospectively analysed 236 genetically confirmed FMF patients treated with colchicine for ≥6 months. Patients were classified as colchicine-sensitive (CoS) or colchicine-resistant (CoR) based on the initiation of biologic therapy, which served as an operational definition of resistance, and matched for age and sex. The TURPAID score (range 0–4; resistance threshold ≥2) was retrospectively applied. Receiver operating characteristic (ROC) curves were used to assess predictive value.Results A TURPAID score ≥2 was observed in 89% of paediatric and 76% of adult CoS patients. Mean scores were significantly higher in paediatric-onset FMF. ROC analysis showed poor discrimination in both paediatric and adult groups (area under the curve=0.6). Clinical features and attack patterns varied by age. The genetic component (1.5 points for MEFV exon 10 mutations) contributed to overclassification, reducing predictive accuracy.Conclusion The TURPAID score did not effectively predict colchicine resistance in the JIR cohort. Its limited generalisability may stem from age-related differences, recall bias and excessive genetic weighting. Genetic results should be a prerequisite and not a determinant of colchicine resistance prediction scores in FMF.",
  "authors": [
    {
      "affiliations": [
        "Department of Internal Medicine, Sorbonne University, DMU3ID, ERN RITA, Hôpital Tenon, University, Assistance publique-hôpitaux de Paris (AP-HP), 4 rue de la Chine, 75020 Paris, France",
        "Centre de référence des maladies autoinflammatoires et de l’amylose (CEREMAIA), Paris, Île-de-France, France",
        "Service de pédiatrie, Centre hospitalier de Versailles, 78150 le Chesnay, France",
        "Université Paris Cité, Institut Cochin, Inserm, CNRS, Paris, France"
      ],
      "name": "Philippe Mertz"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, Sorbonne University, DMU3ID, ERN RITA, Hôpital Tenon, University, Assistance publique-hôpitaux de Paris (AP-HP), 4 rue de la Chine, 75020 Paris, France",
        "Service de Médecine Interne, Hôpital Jean Verdier, Bondy, France"
      ],
      "name": "Inès Elhani"
    },
    {
      "affiliations": [
        "Centre de référence des maladies autoinflammatoires et de l’amylose (CEREMAIA), Paris, Île-de-France, France",
        "Pediatric Rheumatology Department, Kremlin Bicêtre Hospital, AP-HP, Le Kremlin Bicêtre, University of Paris Saclay, Bicètre, France"
      ],
      "name": "Isabelle Koné-Paut"
    },
    {
      "affiliations": [
        "Rheumatology Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland"
      ],
      "name": "Diana Dan"
    },
    {
      "affiliations": [
        "Service de médecine interne, CHU Nord, APHM, Marseille, France"
      ],
      "name": "Sandrine Roque"
    },
    {
      "affiliations": [
        "Paediatric Rheumatology and Immunology Unit, Department of Pediatrics, University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland"
      ],
      "name": "Katerina Theodoropoulou"
    },
    {
      "affiliations": [
        "Division of Immunology and Children’s Research Center, University Children’s Hospital, Zurich, Switzerland",
        "Pediatric Immunology, Medical Faculty, University of Zurich, Zurich, Switzerland"
      ],
      "name": "Jana Pachlopnick Schmid"
    },
    {
      "affiliations": [
        "Department of Pediatric Immunology, Hematology and Rheumatology, Necker Hospital, AP-HP, National Reference Centre for Rheumatic and Autoimmune Diseases in Children, RAISE, Paris, Île-de-France, France"
      ],
      "name": "Brigitte Bader-Menier"
    },
    {
      "affiliations": [
        "National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital, Lyon, France"
      ],
      "name": "Alexandre Belot"
    },
    {
      "affiliations": [
        "General Paediatrics, Department of Infectious Disease and Internal Medicine, Robert Debré Mother-Child University Hospital, Reference Centre for Rheumatic, AutoImmune and Systemic Diseases in Children (RAISE), AP-HP, Paris, France"
      ],
      "name": "Cécile Dumaine"
    },
    {
      "affiliations": [
        "Department of General Pediatrics, Grenoble Alpes University Hospital, Grenoble, France"
      ],
      "name": "Charlotte Kevorkian-Verguet"
    },
    {
      "affiliations": [
        "Centre de référence des maladies autoinflammatoires et de l’amylose (CEREMAIA), Paris, Île-de-France, France",
        "Service de pédiatrie, Centre hospitalier de Versailles, 78150 le Chesnay, France"
      ],
      "name": "Sébastien Cavelot"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, Sorbonne University, DMU3ID, ERN RITA, Hôpital Tenon, University, Assistance publique-hôpitaux de Paris (AP-HP), 4 rue de la Chine, 75020 Paris, France",
        "Centre de référence des maladies autoinflammatoires et de l’amylose (CEREMAIA), Paris, Île-de-France, France"
      ],
      "name": "Sophie Georgin-Lavialle"
    },
    {
      "affiliations": [
        "Centre de référence des maladies autoinflammatoires et de l’amylose (CEREMAIA), Paris, Île-de-France, France",
        "Service de pédiatrie, Centre hospitalier de Versailles, 78150 le Chesnay, France"
      ],
      "name": "Véronique Hentgen"
    }
  ],
  "title": "Colchicine resistance prediction criteria from the TURPAID cohort do not apply to the JIR cohort: a multicentre descriptive analysis",
  "uid": "cc8cbf29-172b-5f62-99fc-175bc3e35b3b"
}