Periodic Syndrome Associated to Cryopyrin: About 10 Cases

Abstract

NLRP3 gene responsible for an uncontrolled activation of the innate immunity. Objective is to study epidemiological, clinical, genetic, therapeutic and evolutionary characteristics of CAPS. Material and methods: It is a retrospective analysis over 20 years (2000 to 2020) of 10 cases of CAPS, followed by the P-IV service and the pediatric rheumatology consultation at the Rabat children’s hospital. Results: The mean age at diagnosis was 3 years and 7 months with a masculine predominance of 70%. 06 patients were born to consanguineous parents (first degree). Clinical signs were a recurrent fever in 90%, osteo-articular involvement in 90% with patellar hypertrophy in 04 patients, skin signs were found in all patients 100%, neurological involvement in 70%, sensorial disabilities in 10%, dysmorphic facies in 80%, and failure to thrive in 80%. None of our patients had renal amyloidosis. An inflammatory syndrome was present in all patients 100%. Radiography of joints showed a modeling disorder of the femoral metaphysis in 02 patients, osteoporosis in 02 others, epiphyseal remodeling, and irregular ossification of patella in 01 patient. The genetic studies could only be done to one patient, and it revealed a CIAS1 mutation. NSAIDs and corticosteroids were prescribed to 07 patients with good evolution, and 02 patients received biotherapy, after NSAIDs and steroids treatment failure, with clear improvement. Conclusion: CAPS are rare diseases, and they are largely unknown. Diagnostic and therapeutic management should be early and prompt to avoid irreversible complications and improve the quality and expectancy of life.