ABSTRACT
OBJECTIVE: The aim of the present study was to investigate the prevalence of MEFV gene mutations in patients with ankylosing spondylitis (AS) and to assess the clinical significance of the MEFV gene mutations in AS. METHODS: Eighty AS patients and 85 healthy controls were examined for 12 common MEFV mutations via strip-assay technique. Bath ankylosing spondylitis disease activity index (BASDAI), bath ankylosing spondylitis functional index (BASFI), visual analogue scale (VAS) for pain, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Schober test, chest expansion measurements, hip involvement, ocular involvement, articular pain, and presence of syndesmophytes were used to assess the disease severity in patients. RESULTS: Twenty-four of the AS patients (30%) and 17 of the healthy controls (20%) were found to carry a single MEFV mutation. There was no significant difference between the AS patients and controls in terms of MEFV gene mutation frequency (p = 0.13, OR: 1.71, 95% CI: 0.83-3.50). When the patients were divided into two groups as MEFV mutation carriers and noncarriers, there was significant difference between the groups regarding BASFI and BASDAI whereas there was no significant difference in VAS score for pain. No association was found with the clinical findings and MEFV mutation except hip involvement. While there was no significant difference in CRP levels, individuals with MEFV mutation had a higher ESR than the noncarriers. CONCLUSION: MEFV gene mutation carriage rate was not found to be significantly higher in AS patients when compared with healthy controls. However having an MEFV mutation seems to aggravate the disease course in AS.
Subject(s)
Cytoskeletal Proteins/genetics , Genetic Predisposition to Disease , Mutation/genetics , Spondylitis, Ankylosing/genetics , Adult , HLA-B27 Antigen/immunology , Health Status , Humans , Odds Ratio , Pain/physiopathology , Pain Measurement , Pyrin , Severity of Illness Index , Spondylitis, Ankylosing/immunology , Spondylitis, Ankylosing/physiopathologyABSTRACT
The aim of this study was to compare health related quality of life (HRQoL) and assess functional and psychological status in rheumatoid arthritis (RA), fibromyalgia syndrome (FS) patients and controls (each 30 subjects). Demographic characteristics, pain and sleep disturbance by Visual Analog Scale, depression by Beck Depression Inventory (BDI), disease impact by fibromyalgia impact questionnaire, DAS-28, and HRQoL by SF-36 were gathered. The FS group scored significantly worser than the RA group with respect to physical role, social functioning and bodily pain subscales of SF-36. The scores of all SF-36 subscales were significantly lower in FS and RA patients than controls except mental health score. All of the subscales of SF-36 were negatively correlated with BDI scores in FS patients. In RA group, the DAS-28 scores were inversely correlated with all of SF-36 subscales. In conclusion, presence of comorbid depression must be taken into account when determining HRQoL in FS and RA. Essentials improving the HRQoL are management of depression in FS and control of disease activity in RA.
Subject(s)
Arthritis, Rheumatoid/psychology , Depression/complications , Fibromyalgia/psychology , Quality of Life/psychology , Adult , Brief Psychiatric Rating Scale , Female , Humans , Male , Pain Measurement , Severity of Illness IndexABSTRACT
There are no specific diagnostic tests or a gold standard method for measuring disease activity and outcome in spondyloarthropathies (SpA). Many different methods have been developed to assess the signs and symptoms in SpA. The aim of this study was to evaluate the value of scintigraphy, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and Bath Ankilosing Spondylitis Disease Activity Index (BASDAI) in the evaluation of disease activity in early axial SpA diagnosed with magnetic resonance imaging (MRI). Thirty early MRI-positive axial SpA patients (23 males, 7 females) with a median age of 35 (18-55) years and a median duration of inflammatory low back pain of 24 (8-60) months were included in the study. In the patients with sacroiliitis, the sensitivity, specificity, and positive and negative predictive values of disease activity parameters were determined regarding MRI as the gold standard method. The sensitivities of quantitative scintigraphy, visual scintigraphy, ESR, CRP, and BASDAI were 32, 82, 35, 71, and 60%, respectively. The specificities of quantitative scintigraphy, ESR, CRP, and BASDAI were 100, 100, 50, and 100%, respectively. The positive predictive values of quantitative scintigraphy, visual scintigraphy, ESR, CRP, and BASDAI were 100, 92, 100, 95, and 100%, respectively. The negative predictive values of quantitative scintigraphy, ESR, CRP, and BASDAI were 9, 10, 11, and 15%, respectively. Regarding MRI as the gold standard in the evaluation of disease activity, combined visual and quantitative bone scintigraphy can be valuable in patients with MRI-incompatible implants. Additionally, use of cheaper, simple, and readily reproducible tests such as CRP and BASDAI together could be valuable and practical in detecting disease activity in long-term follow-up of these patients.
Subject(s)
Magnetic Resonance Imaging , Spondylarthropathies/diagnostic imaging , Spondylarthropathies/pathology , Adolescent , Adult , Blood Sedimentation , C-Reactive Protein/metabolism , Case-Control Studies , Early Diagnosis , Female , HLA-B27 Antigen/blood , Humans , Male , Middle Aged , Predictive Value of Tests , Radionuclide Imaging , Sacroiliac Joint/diagnostic imaging , Sacroiliac Joint/pathology , Sensitivity and Specificity , Severity of Illness Index , Spondylarthropathies/bloodABSTRACT
OBJECTIVE: To report a case of acute myopathy after concomitant use of colchicine and pravastatin. CASE SUMMARY: A 65-year-old woman was admitted to the hospital with an acute episode of gout. She had been taking pravastatin 20 mg once daily for 6 years. On admission, blood urea nitrogen and serum creatinine levels were 48 mg/dL and 1.3 mg/dL, respectively. Colchicine 1.5 mg/day was added to the treatment regimen, but 20 days after the initiation of colchicine therapy, symmetrical proximal muscle weakness developed in the woman's legs. Physical examination, laboratory findings, and electromyelogram findings suggested myopathy. The Naranjo probability scale indicated a probable relationship between myopathy and combined therapy. Seven days after discontinuation of colchicine and pravastatin, the patient's weakness improved and enzyme levels returned to normal. Colchicine was restarted at 1.0 mg/day 5 days later; no myopathy occurred. DISCUSSION: Hydroxymethylglutaryl coenzyme A reductase inhibitors (statins) and colchicine are known to cause myopathy. Most of the statins and colchicine are biotransformed in the liver primarily by the CYP3A4 system, which may increase the risk of myopathy when concurrent therapy is used. However, pravastatin is not primarily metabolized by cytochrome P450 isoenzymes. The cause of myopathy in our patient may be related to the interaction of colchicine and pravastatin via P-glycoprotein. In addition, the presence of mild renal dysfunction could have contributed to the development of myopathy. CONCLUSIONS: We suggest that clinicians be aware that neuromuscular toxicity can occur in patients with mild renal dysfunction with combined use of colchicine and pravastatin.