283 research outputs found
Clinical characteristics of children with Juvenile Systemic Sclerosis: follow-up of 23 patients in a single tertiary center
© 2007 Russo and Katsicas; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor ReceptorâAssociated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome
Objective: Periodic fever syndrome (PFS) conditions are characterized by recurrent attacks of fever and localized inflammation. This study examined the diagnostic pathway and treatments at tertiary centers for familial Mediterranean fever (FMF), tumor necrosis factor receptorâassociated periodic syndrome (TRAPS), and mevalonate kinase deficiency (MKD)/hyperimmunoglobulinemia D syndrome (HIDS).
Methods: PFS specialists at medical centers in the US, the European Union, and the eastern Mediterranean participated in a retrospective chart review, providing deâidentified data in an electronic case report form. Patients were treated between 2008 and 2012, with at least 1 year of followup; all had clinical and/or genetically proven disease and were on/eligible for biologic treatment.
Results: A total of 134 patients were analyzed: FMF (nâ=â49), TRAPS (nâ=â47), and MKD/HIDS (nâ=â38). Fever was commonly reported as severe across all indications. Other frequently reported severe symptoms were serositis for FMF patients and elevated acuteâphase reactants and gastrointestinal upset for TRAPS and MKD/HIDS. A long delay from disease onset to diagnosis was seen within TRAPS and MKD/HIDS (5.8 and 7.1 years, respectively) compared to a 1.8âyear delay in FMF patients. An equal proportion of TRAPS patients first received antiâinterleukinâ1 (antiâILâ1) and antiâtumor necrosis factor (antiâTNF) biologic agents, whereas ILâ1 blockade was the main choice for FMF patients resistant to colchicine and MKD/HIDS patients. For TRAPS patients, treatment with anakinra versus antiâTNF treatments as first biologic agent resulted in significantly higher clinical and biochemical responses (Pâ=â0.03 and Pâ<â0.01, respectively). No significant differences in responses were observed between biologic agents among other cohorts.
Conclusion: Referral patterns and diagnostic delays highlight the need for greater awareness and improved diagnostics for PFS. This realâworld treatment assessment supports the need for further refinement of treatment practices
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