summary Background: Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time. Patients and Methods: We examined cases in which symptoms considered periodic seizures were repeated, excluding autoimmune diseases, infectious diseases, and malignant tumors. In both cases, genetic analysis is performed as auxiliary diagnosis. Results: Seven cases satisfied the Tel-Hashomer criteria criteria and MEFV gene mutation was detected. Everyone was a female, and half had seizure symptoms at menstruation. Even though there is a difference in the amount of colchicine to be used, either one is effective. Conclusion: In cases of periodic symptoms or cases called periodic fever, exclusion diagnosis is carried out, there is a need to suspect FMF, determine the effect of colchicine, and perform genetic analysis.
Anti-aminoacyl-tRNA synthetase (ARS) antibody is one of the myositis-specific autoantibodies to make a diagnosis of polymyositis (PM) and dermatomyositis (DM). Recently a new enzyme-linked immunosorbent assay (ELISA) kit of concurrently detected anti-ARS antibodies (anti-Jo-1, anti-PL-7, anti-PL-12, anti-EJ and anti-KS) have become to measure in the clinical setting. To evaluate the reliability of this ELISA kit, we measured anti-ARS antibodies in 75 PM and DM patients using by this ELISA assay and compared them with the results by RNA immunoprecipitation assay. Between the measurements of anti-PL-7, anti-PL-12, anti-EJ and anti-KS autoantibodies by ELISA assay and RNA-IP assay, the concordance rate of reproducibility is 95.1% and the positive agreement rate is 90.9% and negative agreement rate is 96.0% and kappa statistic is 0.841. Between the measurements of existing anti-Jo-1 antibody ELISA kit and anti-ARS antibody ELISA kit, the concordance rate of reproducibility is 96.9%, the positive agreement rate is 100%, negative agreement rate is 96.1% and kappa statistic is 0.909. The lung involvement in patients with PM and DM patients are positive of anti-ARS antibodies and anti-melanoma differentiation associated gene5 (MDA5) antibody at a rate around 70%. Then most life-threatening ILD with anti-MDA5 positive clinically amyopathic dermatomyositis patients could be highly guessed when anti-ARS antibodies are negative.
A 48-year-old woman had suffered from a fever and general fatigue, and visited the other hospital for fever elevation in November 2013, at which time interstitial lung disease was revealed. In January 2014, she experienced an eruption in the hand and developed peripheral blood flow damage. Under a diagnosis of adult Still's disease, the patient was administered 0.5 mg of betamethasone as well as cyclosporin at 75 mg/day. In November 2014, general fatigue, fever, and headache were noted, while MRI revealed an enlarged hypophysis and laboratory findings were positive for the anti-pituitary cell antibody, thus a diagnosis of autoimmune hypophysitis was made. Although disease activity was low, she requested hospitalization and was admitted by the Division of Endocrinology and Metabolism at our hospital in May 2015, though only observed. Fever developed again, along with interstitial lung disease, Raynaud's phenomenon, and pain in the crural area again, and we considered the possibility of another disease. After stopping administration of betamethasone and cyclosporin, we made a diagnosis of anti-aminoacyl tRNA synthetase antibody syndrome, and administered methylprednisolone at 500 mg for 3 days as well as prednisolone at 35 mg/day following steroid pulse therapy. Although her condition soon improved, fever, muscle pain, and pancytopenia returned after 3 days. Bone marrow findings revealed the existence of hemophagocytosis, for which we again gave methylprednisolone at 500 mg for 3 days and cyclosporin at 125 mg/day. Thereafter, the patient recovered and was discharged from the hospital.
summaryA 65-year-old woman with a 17-year history of polymyositis and 8-year history of rheumatoid arthritis who was treated with a low dose of prednisolone and tacrolimus (Tac) was admitted to our hospital because of general malaise and hypertension. Blood tests showed thrombocytopenia, hemolytic anemia with fragmented erythrocytes, and hypercreatinemia. Based on these clinical features, she was diagnosed with thrombotic micro-angiopathy (TMA). Thrombocytopenia and hemolytic anemia with fragmented erythrocytes improved with the discontinuation of Tac and plasma exchange; however, hypertension and renal dysfunction persisted. TMA due to calcineurin inhibitor (CNI) nephropathy was suspected based on the histopathological findings of renal biopsy. However, the condition was atypical of a CNI nephropathy because the trough level of Tac was lower than that reported previously and renal dysfunction persisted after drug discontinuation. She had mild sclerodactylia and Raynaud's symptoms, although the diagnostic criteria for systemic sclerosis (SSc) were not satisfied. Moreover, the patient tested positive for anti PL-7 antibody. The relationship between anti PL-7 antibody and pathogenesis of SSc has been reported. In this case, it was suspected that CNI nephropathy worsened because of the potential basic factors of SSc. These findings indicate that TMA may occur in patients testing positive for anti PL-7 antibody who are treated with Tac. Key words
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease caused by Mediterranean FeVergene (MEFV) mutations on Chromosome 16, and characterized by periodic fever of and serositis. FMF is the result of gain-of-function mutations in pyrin that lead to interleukin-1β activation. FMF can be classified as "typical" and "atypical" types based on clinical finding and genetic screening. Although MEFV genotyping has enabled FMF to be confirmed in some cases, the diagnosis remains predominantly clinical since genotyping has shown that the disease is characterized by variable manifestations in Japanese. In 1976, the first report performed on the case of Japanese FMF with periodic fever of and serositis. Since 2002, genetic analyses are performed on Japanese FMF patients by K. Shiozaki et al. and N. Tomiyama et al. In our case, she was a 25-year-old Japanese woman with at periodic fever and abdominal pain. MEFV gene analysis demonstrated a heterozygous mutation of variant M694I, leading to a diagnosis of FMF. After the increase dose (up to 3 mg/day) of colchicine, periodic fever and abdominal pain disappeared. It is the important candidate of FMF for differential diagnosis with unexplained periodic fever and serositis, such as our case.
BackgroundBiological disease-modifying antirheumatic drugs (bDMARDs) inhibit progression of structural damage in rheumatoid arthritis (RA). These results suggest the possibility that bDMARDs improve osteoclastic bone destruction of RA. However, the detailed mechanism of bDMARDs for bone metabolism in RA is poorly understood.ObjectivesTo clarify the mechanism of tocilizumab (TCZ) or abatacept (ABT) for bone metabolism in active RA.MethodsWe selected 80 female patients with active RA, 44 patients were treated with TCZ and 36 patients were treated with ABT intravenously. Next, Circulating levels of type I collagen cross-linked N-telopeptides (NTx), osteocalcin (OC), soluble receptor activator of NF-kappa B ligand (sRANKL), osteoprotegerin (OPG), Dicckopf-1 (DKK-1), and osteopontin (OPN) were examined by ELISA at baseline and after 12 weeks of each treatment.ResultsMatching of patients according to propensity score resulted in a cohort that consisted of 28 patients in TCZ group and 28 patients in ABT group. Patient's background between TCZ group and ABT group, including age, prednisolone or methotrexate dose, and baseline of DAS-28 was matched. In TCZ group, average of NTx, DKK-1 and OPN levels at 12 weeks decreased significantly from the baseline (24.4 vs 21.5 nmol BCE/L; p<0.05, 2743 vs 2138 pg/mL; p<0.01, 90 vs 60 pg/mL; p<0.01 respectively). Average of OC levels at 12 weeks increased significantly from the baseline (8.6 vs 10.1 ng/mL; p<0.01). Average of sRANKL and sRANKL/OPG levels at 12 weeks tended to decrease from the baseline (0.47 vs 0.41 pmol/L, 0.13 vs 0.10% respectively). Interestingly, average of OPG levels at 12 weeks tended to increase from the baseline (5.03 vs 5.23 pmol/L). In ABT group, similarly, average of NTx and OPN levels at 12 weeks decreased significantly from the baseline (16.1 vs 14.7 nmol BCE/L; p<0.05, 86 vs 71 pg/mL; p<0.05 respectively). OC levels tended to increase (6.4 vs 6.8 ng/mL). However, sRANKL, OPG and sRANKL/OPG levels were not changed. In contrast, average of DKK-1 levels at 12 weeks increased significantly from the baseline (2336 vs 2558 pg/mL; p<0.05). In comparison of the rate of change from the baseline (%change) of these biomarkers between TCZ group and ABT group, %change of OPG in TCZ group increased significantly compared with ABT group (5.56 vs -1.77%; p<0.05) and %change of DKK-1 in TCZ group decreased significantly compared with ABT group (-18.2 vs 10.4%; p<0.01).ConclusionsTCZ or ABT has improved inflammatory bone destruction of RA. However, the main mechanism of TCZ and ABT is different. These results suggest that TCZ has improved bone metabolism in RA through the control of osteoclastogeneis via RANKL/OPG balance. Especially, the promotion of osteoblastogenesis via the inhibition of DKK-1 may be a specific effect in TCZ compared with ABT. On the other hands, In ABT, it is suggested that the suppression mechanism involved in osteoclastogenesis which does not pass control of RANKL/OPG balance exists. This mechanism may be a direct inhibiting effect of osteoclast pre...
A 39-year-old man with seronegative rheumatoid arthritis which was refractory to methotrexate and prednisolone therapy complained of epigastralgia, melena and diarrhea. Diffuse mucosal damage was observed on endoscopic examination, and histological findings of the gastric and colonal mucosa showed AA type amyloidosis. He was diagnosed with ankylosing spondylitis (AS) on the basis of the clinical feature such as the limitation in range of motion of lumber spine, and sacroiliitis on MR imaging. Although digestive symptom ameliorated by fasting and antibiotic therapy, laboratory findings continued to reveal an elevation of serum C-reactive protein (CRP) value and arthritis worsened. However, after the initiation of the treatment with adalimumab (ADA), not only his manifestation but also serum levels of CRP became normalized promptly. As far as we could evaluated, follow-up colonoscopic examination showed normal mucosal findings and histologic examination proved that amyloid protein disappeared. Secondary gastrointestinal amyloidosis is ralely associated with AS. Therefore standard therapy is not established. This case might indicate an efficacy of ADA for secondary gastrointestinal amyloidosis accompanied with AS.
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