ABSTRACT
Tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS) is a very rare, hereditary, auto-inflammatory disorder caused by a genetic mutation within the tumor necrosis factor receptor superfamily member one-A (TNFRSF1A) gene, resulting in unregulated, systemic inflammation. We will present a patient who suffered through years of multiple medical problems of unknown etiology and will describe the process leading to the diagnosis of TRAPS. It is important to consider this syndrome as a rare but probable diagnosis in patients who lack a unifying explanation for multiple inflammatory symptoms.
ABSTRACT
OBJECTIVES: To compare systemic lupus erythematosus (SLE) disease activity measured by a modified Systemic Lupus Activity Measure (m-SLAM) with functional/health status measured by the SF-36 questionnaire. PATIENTS AND METHODS: m-SLAM and SF-36 scores were obtained on 71 SLE patients during 242 clinic visits over 15 months. Patients were stratified into disease activity groups (m-SLAM <2 = remission; 2-4 = mild; 4-6 = moderate; >6 = severe). Mean SF-36 group scores were compared by analysis of variance (ANOVA). RESULTS: Two hundred and nineteen m-SLAM and SF-36 scores were completed. The disease activity groups correlated inversely with the SF-36 scores in all eight subscales, i.e. the patients' perceived health, as assessed by the SF-36, correlated with their disease activity level as measured by the m-SLAM. Inverse correlation of SLAM activity groups with all eight SF-36 subscales was highly statistically significant. CONCLUSION: The significant inverse correlation of the m-SLAM with all domains of the SF-36 in this study provides potentially useful information for evaluating patients with SLE.
