Francisca Aguiar

Objectives: Still disease, which includes systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still disease (AOSD), has historically had age-related treatment differences. With the advent of bDMARDs and evolving disease knowledge, management approaches have shifted. Our study aims to describe 2024 reported clinical practices for Still disease in France, and compare them with 2017 and 2024 national guidelines to identify practice gaps. Methods: This study is a French subanalysis of the European JIR-CliPS project, which evaluates reported prescribing practices for inflammatory diseases, taking into account recommendations and socio-economic factors in the participating countries. A detailed questionnaire was distributed to French physicians through professional societies and colleges. Results: Forty-seven physicians, mainly pediatric rheumatologists, internists, and rheumatologists, participated. While national guidelines influenced therapeutic decisions in most cases, only 26.7% followed them strictly, and 78.9% perceived no significant differences in the management of sJIA and AOSD. Treatment decisions were primarily guided by disease phenotype, severity, and relapse status. The use of bDMARDs as first-line treatment remained limited for several phenotypes, and glucocorticoid tapering strategies were heterogeneous, with most physicians adjusting tapering based on clinical response rather than following a standard schedule. Conclusion: This study highlights gaps between 2024 practice and current national guidelines for Still disease, particularly in first-line bDMARD use and glucocorticoid tapering. Understanding these gaps may support standardized practice and improved management of Still disease in the future.

Systemic autoinflammatory diseases (SAIDs) are a group of disorders that constitute a rare cause of recurrent fevers. Recurrent fevers are defined as periodic febrile episodes lasting from days to weeks, separated by symptom-free intervals of variable duration. They present multiple etiologies, representing a diagnostic challenge. Mevalonate kinase deficiency (MKD) is a genetic SAID, a rare hereditary recurrent fever syndrome (HRF) caused by pathogenic variants in the mevalonate kinase (MVK) gene. It is characterized by the early onset of periodic fever flares, frequently associated with joint, gastrointestinal, skin, and lymph node involvement. Although elevated serum immunoglobulin D (IgD) levels were previously considered an MKD's hallmark, normal values do not exclude it. High serum immunoglobulin A (IgA) is frequent. An acute-phase response and elevated urinary mevalonic acid (UAV) excretion during flares may aid in the diagnosis. Genetic testing is an essential tool to confirm the diagnosis. The authors report two siblings presenting with early infancy onset of recurrent febrile illness and characteristic associated symptoms, one of which was initially misdiagnosed with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. MKD diagnoses were only established at 12 and nine years old, respectively, after the identification of the same two MVK gene variants. The diagnosis in the eldest favored the earlier recognition of MKD in the youngest. Owing to its wide spectrum of manifestations, with many being nonspecific and/or shared with other more frequent entities, a significant proportion of MKD patients present a long delay until its final establishment. These cases illustrate the MKD diagnosis and management's difficulties, reinforcing the importance of a careful clinical history and HRF awareness for its prompt diagnosis and appropriate precocious referral.

Juvenile systemic lupus erythematosus (JSLE) is diagnosed in children younger than 18 years of age. Depression and anxiety are common, but not well understood in JSLE. We investigated the clinical and psychological factors associated with the psychological manifestations of JSLE. Twenty-nine JSLE patients were recruited for the study. Patients completed surveys evaluating their psychological status and perceptions about their health. Medical records were used to obtain laboratory results. The JSLE patient population was compared with adult-onset SLE (ASLE) patients and unaffected controls. Kidney involvement was associated with depression in the JSLE patients. The BUN levels, BUN/creatinine ratio, and leukocyturia were all significantly associated with depressive symptoms. Multivariate analysis found that the BUN/creatinine ratio was the most predictive value for both depression and anxiety. Depressive symptoms in JSLE were less pronounced than in ASLE, although anxiety was not different. Age and education are likely to be protective against depression in the JSLE patients. These findings may indicate that symptomatology is an important indicator of whether the patient needs psychiatric care.

Patients with chronic kidney disease (CKD) have an increased susceptibility to fracture and this risk gradually rises as renal disease progresses. Chronic kidney disease-mineral and bone disorder (CKD-MBD) en compasses the mineral, bone, hormonal and calcific cardiovascular abnormalities that develop in these patients. Renal osteodystrophy (ROD) corresponds to the histopathologic description of bone lesions associated with CKD-MBD. Fragility fracture approach in CKD stages 1-3a may be similar to that of the general population. However, in stages 3b-5, osteoporosis cannot be established by the World Health Organization (WHO) criteria based on bone mineral density (BMD) or the presence of fragility fractures, because low BMD and fractures can also occur in the different forms of ROD. The gold standard for the diagnosis and classification of ROD is tetracycline double-labelled transi-liac bone biopsy, with bone histology and histomor-phometric analysis. By informing on bone turnover, mineralization and volume, it is a valuable tool that may help guide the management of CKD patients with fragility fractures, as therapeutic measures are distinct depending if the patient has osteoporosis or one of the forms of ROD. For patients with stages 1-3 CKD, without biochemical abnormalities suggestive of CKD-MBD, who sustained low-trauma fractures, any therapeutic approved for use in osteoporosis could be used. However, there is little evidence for the efficacy and safety of conventional anti-osteoporotic agents in patients with more advanced CKD stages, so currently the approach is opinion-based and must be patient-tailored depending on the presence or absence of ROD.