1.S1000A12, Chitotriosidase, and Resolvin D1 as Potential Biomarkers of Familial Mediterranean Fever.
Ali TAYLAN ; Oguz GURLER ; Burak TOPRAK ; Ali Riza SISMAN ; Hulya YALCIN ; Ayfer COLAK ; Ismail SARI
Journal of Korean Medical Science 2015;30(9):1241-1245
Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic inflammatory attacks. We investigated changes in monocyte-granulocyte derived S10012A and chitotriosidase in both the attack and silent period of FMF for better estimation of inflammation. Endogenous resolvin was determined for utility to restrict inflammation. This study included 29 FMF patients (15 M/14 F) and 30 healthy controls (15 M/15 F). Serum levels of highly sensitive C-reactive protein, serum amiloid A (SAA), S100A12, chitotriosidase, and resolvin D1 were measured. Age, sex, body mass indexes, and lipids were similar between patients and controls. Biomarkers including hs-CRP, SAA, S100A12, chitotriosidase, and resolvin D1 were higher in the attack period of FMF patients compared to controls (P < 0.001). When FMF patients in the silent period were compared with their attack period, hs-CRP, SAA, and chitotriosidase were found elevated in the attack period (P < 0.001, P < 0.001, and P = 0.02 respectively). Serum levels of SAA, S100A12, chitotriosidase, and resolvin D1 in the silent period of FMF patients were still found elevated compared to healthy controls, indicating subclinical inflammation (P < 0.001, P < 0.001, P = 0.009, and P < 0.001 respectively ). In subgroup analysis, patients with M694V homozygote and heterozygote mutations had higher S10012A and hs-CRP compared to other mutation carriers. Our findings indicate that chitotriosidase and S10012A are useful in diagnosis and detection of subclinical inflammation and/or assessment of disease activity in FMF patients. They could be more informative for inflammation in various disease states compared to hsCRP and SAA. Resolvin D1 is elevated in both the attack and silent periods of FMF. It may be helpful to restrict inflammation.
Adult
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Biomarkers
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Docosahexaenoic Acids/*blood
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Familial Mediterranean Fever/*blood/*diagnosis
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Feasibility Studies
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Female
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Hexosaminidases/*blood
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Humans
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Male
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Reproducibility of Results
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S100A12 Protein/*blood
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Sensitivity and Specificity
2.The role of neutrophil lymphocyte ratio to leverage the differential diagnosis of familial Mediterranean fever attack and acute appendicitis.
Adem KUCUK ; Mehmet Fatih EROL ; Soner SENEL ; Emir EROLER ; Havvanur Alparslan YUMUN ; Ali Ugur USLU ; Asiye Mukaddes EROL ; Deniz TIHAN ; Ugur DUMAN ; Tevfik KUCUKKARTALLAR ; Yalcin SOLAK
The Korean Journal of Internal Medicine 2016;31(2):386-391
BACKGROUND/AIMS: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and diffuse abdominal pain. The primary concern with this presentation is to distinguish it from acute appendicitis promptly. Thus, we aimed to evaluate the role of neutrophil lymphocyte ratio (NLR) to leverage the differential diagnosis of acute FMF attack with histologically proven appendicitis. METHODS: Twenty-three patients with histologically confirmed acute appendicitis and 88 patients with acute attack of FMF were included in the study. NLR, C-reactive protein and other hematologic parameters were compared between the groups. RESULTS: Neutrophil to lymphocyte ratio was significantly higher in patients with acute appendicitis compared to the FMF attack group (8.24 +/- 6.31 vs. 4.16 +/- 2.44, p = 0.007). The performance of NLR in diagnosing acute appendicitis with receiver operating characteristic analysis with a cut-off value of 4.03 were; 78% sensitivity, 62% specificity, and area under the curve 0.760 (95% confidence interval, 0.655 to 0.8655; p < 0.001). CONCLUSIONS: This study showed that NLR, the simple and readily available inflammatory marker may have a useful role in distinguishing acute FMF attack from acute appendicitis.
Adult
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Appendicitis/blood/*diagnosis
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Area Under Curve
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Biomarkers/blood
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Blood Sedimentation
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Diagnosis, Differential
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Familial Mediterranean Fever/blood/*diagnosis
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Female
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Humans
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Inflammation Mediators/blood
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Lymphocyte Count
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*Lymphocytes
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Male
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*Neutrophils
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Platelet Count
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Predictive Value of Tests
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ROC Curve
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Reproducibility of Results
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Retrospective Studies
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Young Adult
3.Extensive Thrombosis in a Patient with Familial Mediterranean Fever, Despite Hyperimmunoglobulin D State in Serum: First Adult Case in Korea.
Kowoon JOO ; Won PARK ; Moon Hyun CHUNG ; Mie Jin LIM ; Kyong Hee JUNG ; Yoonseok HEO ; Seong Ryul KWON
Journal of Korean Medical Science 2013;28(2):328-330
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis, or erysipelas-like erythema. It is known to occur mainly among Mediterranean and Middle Eastern populations such as non-Ashkenazi Jews, Arabs, Turks, and Armenians. FMF is not familiar to clinicians beyond this area and diagnosing FMF can be challenging. We report a 22-yr old boy who presented with fever, arthalgia and abdominal pain. He had a history of recurrent episodes of fever associated with arthalgia which would subside spontaneously or by antipyretics. Autosomal recessive periodic fever syndromes were suspected. Immunoglobulin D (IgD) level in the serum was elevated and DNA analysis showed complex mutations (p.Glu148Gln, p.Pro369Ser, p.Arg408Gln) in the MEFV gene. 3D angio computed tomography showed total thrombosis of splenic vein with partial thrombosis of proximal superior mesenteric vein, main portal vein and intrahepatic both portal vein. This is a case of FMF associated with multiple venous thrombosis and elevated IgD level. When thrombosis is associated with elevated IgD, FMF should be suspected. This is the first adult case reported in Korea.
Abdominal Pain/etiology
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Arthralgia/etiology
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Cytoskeletal Proteins/genetics/metabolism
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Familial Mediterranean Fever/complications/*diagnosis
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Humans
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Immunoglobulin D/*blood
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Male
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Mesenteric Veins
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Mevalonate Kinase Deficiency/complications/*diagnosis
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Mutation
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Portal Vein
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Republic of Korea
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Splenic Vein
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Tomography, X-Ray Computed
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Venous Thrombosis/complications/*diagnosis
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Young Adult