Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

2015 ◽  
Vol 43 (1) ◽  
pp. 154-160 ◽  
Author(s):  
Erkan Demirkaya ◽  
Celal Saglam ◽  
Turker Turker ◽  
Isabelle Koné-Paut ◽  
Pat Woo ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Diagnostic Criteria ◽  
Pediatric Patients ◽  
Eastern Mediterranean Region ◽  
The Other ◽  
Control Group ◽  
Mevalonate Kinase Deficiency ◽  
Periodic Syndrome ◽  
International Registry ◽  
Mediterranean Fever

Objective.Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF).Methods.Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed.Results.The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria.Conclusion.The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.

scholarly journals Differentiating children with familial Mediterranean fever from other recurrent fever syndromes: The utility of new Eurofever/PRINTO classification criteria

2021 ◽  
Vol 36 (4) ◽  
pp. 493-498
Author(s):  
Rabia Miray Kışla Ekinci ◽  
Sibel Balcı ◽  
Ahmet Hakan Erol ◽  
Dilek Karagöz ◽  
Derya Ufuk Altıntaş ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Sensitivity And Specificity ◽  
Mefv Gene ◽  
Classification Criteria ◽  
Recurrent Fever ◽  
Control Group ◽  
Mevalonate Kinase Deficiency ◽  
Cross Sectional ◽  
M694v Mutation ◽  
Mediterranean Fever

Objectives: In this study, we aimed to investigate the performance of Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) classification criteria in pediatric patients with familial Mediterranean fever (FMF). Patients and methods:This retrospective, cross-sectional study included a total of 130 pediatric FMF patients (67 males, 63 females; mean age: 12.4±3.6 years; range, 2.5 to 17.7 years) with at least one M694V mutation in MEFV gene between July 2010 and July 2019. Demographic features and disease characteristics were recorded. The control group was consisted of 41 patients (19 males, 22 females; mean age: 7.8±4.0 years; range, 2.1 to 17.8 years) with other hereditary autoinflammatory diseases (AIDs), including periodic fevers with aphthous stomatitis, pharyngitis, and adenitis syndrome (n=30), mevalonate kinase deficiency (n=9), and tumor necrosis factor receptor-associated periodic syndrome (n=2). Sensitivity and specificity of the Eurofever/PRINTO classification criteria were calculated. Results: The sensitivity and specificity were 97.7% and 56.1% for Yalcinkaya-Ozen criteria, respectively and 93.1% and 90.2% for Tel Hashomer criteria, respectively. The Eurofever/PRINTO classification criteria reached a sensitivity and specificity of 94.6% and 82.9% and 93.1% and 80.5%, respectively, when genetic plus clinical criteria and clinical-only criteria were applied. Conclusion: The Eurofever/PRINTO classification criteria have a comparable sensitivity for avoidance of FMF underdiagnosis in childhood. The Yalcinkaya-Ozen criteria have the highest sensitivity without a significant specificity. The Tel Hashomer criteria and Eurofever/PRINTO classification criteria were superior to Yalcinkaya-Ozen criteria to differentiate FMF from other AIDs, thus leading to less complications relevant to underdiagnosis of other AIDs.

scholarly journals AB1034 DEPRESSION AND ANXIETY IN FAMILIAL MEDITERRANEAN FEVER

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1808.2-1809
Author(s):  
D. Karatas ◽  
Z. Öztürk ◽  
D. Cekic ◽  
Z. Yuertsever ◽  
Ü. Erkorkmaz ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Depression ◽  
Anxiety And Depression ◽  
Control Group ◽  
Healthy Controls ◽  
Depression And Anxiety ◽  
Mild Depression ◽  
Moderate Depression ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent attacks of fever, peritonitis, pleuritis, arthritis, and skin eruption (1). It is shown by studies that chronic diseases like diabetes mellitus, chronic heart disease, hypertension which other than inflammatory – rheumatologic disease increase depression and anxiety (2). There are a few studies evaluating depression and anxiety in FMF patients, and these results are conflicting (3,4).Objectives:To assess the frequency of depression and anxiety in patients with Familial Mediterranean Fever (FMF)Methods:In this study, 77 FMF patients aged 18 and over who were followed up in Sakarya University Education and Research Hospital, Department of Rheumatology, and 78 healthy volunteers aged 18 and over as thecontrol group. Beck depression scale and Beck anxiety scale were used to depression and anxiety, respectively. Beck’sdepression scale was evaluated as 9 and below normal, 10-16 mild depression, 17-29 moderate depression, 30-63 severe depression. Beck anxiety scale was evaluated as 0-8 normal, 8-15 mild anxiety, 16-25 moderate anxiety, 26 and above severe anxiety.FMF disease severity was determined by Pras scoring.Results:The study group, comprised 77 diagnosed with FMF with a meanage of 37.18 and a control group comprised of 78 healthy controls (C) with a meanage of 35.32 (p=0,058). İn studygroup (P) %63.6, control group (C) %53.8 as female. %36.4 of thestudy group(C), %46.2 of the control group are male. (p=0,216). The prevalence of depression was significantly higher in FMF patients compared to the control group (in order P;C: normal %24,7; %47,4, mild depression: %40.3; %26.9, moderate depression %26; %19.2, severe depression %11.7; %6.4 p<0.015). Similarly in depression results; the prevalence of anxiety was significantly higher in FMF patients compared to the control group (in order P;C normal %23,4; %57.7, mild anxiety %26; %20.5, moderate anxiety %26; %15.4, severe anxiety %24.4; %6.4 p<0,001). Depression status was not correlated with FMF disease severity (p=0.645). A correlation was found between FMF severity and anxiety which it is which was found statistically significant (p=0.005).There was no relationship between erythrocyte sedimentation rate and C-reactive protein with depression and anxiety.Conclusion:Both anxiety and depression frequency are increased in FMF patients compared to healthy controls.References:[1]Livneh A, Langevitz P, Zemer D et al. (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40 (10), 1879–85.[2]Alonso J, Ferrer M, Gandek B, Ware JE Jr, Aaronson NK, Mosconi P, Rasmussen NK, Bullinger M, Fukuhara S, Kaasa S, Leplège A, IQOLA Project Group (2004) Health-related quality of life associated with chronic conditions in eight countries: results from the International Quality of Life Assessment (IQOLA) Project. Qual Life Res 13:283–298[3]Makay B, Emiroglu N, Unsal E (2010) Depression andanxiety in children and adolescents with familial Mediterranean fever. Clin Rheumatol 29, 375–9.[4]Giese A, Ornek A, Kilic L, Kurucay M, Sendur S. N., Lainka E, Henning B. F. Anxiety and depression in adult patients with familialMediterranean fever: a study comparing patients living in Germany and Turkey. International Journal of Rheumatic Diseases 2017; 20: 2093–2100Disclosure of Interests:None declared

scholarly journals A delayed diagnosis: recurrent fever and beta thalassaemia

2018 ◽  
pp. bcr-2018-225802
Author(s):  
Michael Samarkos ◽  
Marina Mantzourani ◽  
Christina Nika ◽  
Vasiliki Kalotychou
Keyword(s):  
Familial Mediterranean Fever ◽  
Cognitive Biases ◽  
Genetic Disorders ◽  
Delayed Diagnosis ◽  
The Other ◽  
Recurrent Fever ◽  
Autoinflammatory Disorder ◽  
Beta Thalassaemia ◽  
Mediterranean Fever ◽  
Thalassaemia Intermedia

Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.

scholarly journals THE PREVALENCE OF CELIAC DISEASE AMONG PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER

2015 ◽  
Vol 52 (1) ◽  
pp. 55-58 ◽  
Author(s):  
Sedat IŞIKAY ◽  
Nurgül IŞIKAY ◽  
Halil KOCAMAZ
Keyword(s):  
Celiac Disease ◽  
Familial Mediterranean Fever ◽  
Tissue Transglutaminase ◽  
Control Group ◽  
Marsh Type ◽  
Significant Difference ◽  
Healthy Control ◽  
Mediterranean Fever ◽  
Relationship Of ◽  
The Relationship

Background Familial Mediterranean Fever and celiac disease are both related to auto-inflammation and/or auto-immunity and they share some common clinical features such as abdominal pain, diarrhea, bloating and flatulence. Objectives We aimed to determine the association of these two diseases, if present. Methods Totally 112 patients diagnosed with Familial Mediterranean Fever and 32 cases as healthy control were included in the study. All participants were examined for the evidence of celiac disease, with serum tissue transglutaminase IgA levels (tTG IgA). Results Totally 144 cases, 112 with Familial Mediterranean Fever and 32 healthy control cases were included in the study. tTG IgA positivity was determined in three cases with Familial Mediterranean Fever and in one case in control group. In that aspect there was no significant difference regarding the tTG IgA positivity between groups (P=0.81). Duodenum biopsy was performed to the tTG IgA positive cases and revealed Marsh Type 3b in two Familial Mediterranean Fever cases and Marsh Type 3c in the other one while the biopsy results were of the only tTG IgA positive case in control group was Marsh Type 3b. In HLA evaluation of the celiac cases; HLA DQ2 was present in two celiac cases of the Familial Mediterranean Fever group and in the only celiac case of the control group while HLA DQ8 was present in one celiac case of the Familial Mediterranean Fever group. Conclusions We did not determine an association of Familial Mediterranean Fever with celiac disease. Larger studies with subgroup analysis are warranted to determine the relationship of these two diseases.

scholarly journals SEROLOGICAL SCREENING FOR CELIAC DISEASE IN CHILDREN WITH COLCHICINE-RESISTANT FAMILIAL MEDITERRANEAN FEVER

2018 ◽  
Vol 55 (2) ◽  
pp. 175-178
Author(s):  
Yasin ŞAHIN ◽  
Kenan BARUT ◽  
Tufan KUTLU ◽  
Fugen Cullu COKUGRAS ◽  
Amra ADROVIC ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Familial Mediterranean Fever ◽  
Tissue Transglutaminase ◽  
Intestinal Biopsy ◽  
Control Group ◽  
Serological Screening ◽  
Iga Antibodies ◽  
Mediterranean Fever ◽  
Iga Antibody ◽  
Clinical Conditions

ABSTRACT BACKGROUND: Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. OBJECTIVE: We aimed to investigate the relationship between celiac disease and colchicine-resistant familial Mediterranean fever (crFMF) disease. METHODS: This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. RESULTS: Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. CONCLUSION: We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation.

Ischemia-Modified Albumin and Atherosclerosis in Patients With Familial Mediterranean Fever

Angiology ◽  
2015 ◽  
Vol 67 (5) ◽  
pp. 456-460 ◽  
Author(s):  
Adem Kucuk ◽  
Ali Ugur Uslu ◽  
Sevket Arslan ◽  
Sevket Balta ◽  
Cengiz Ozturk ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Intima Media Thickness ◽  
Carotid Intima Media Thickness ◽  
Oxidative Stress Marker ◽  
Study Patient ◽  
Control Group ◽  
Ischemia Modified Albumin ◽  
Patient Demographics ◽  
Atherosclerotic Lesions ◽  
Mediterranean Fever

The constriction of vessels due to atherosclerotic lesions causes hypoxia/ischemia and oxidative changes resulting in transformation of free albumin to ischemia-modified albumin (IMA) in the circulation and increased carotid intima–media thickness (cIMT). We investigated the reliability of IMA increase in evaluating atherosclerosis in patients with familial Mediterranean fever (FMF) compared with cIMT. Patients with FMF (n = 58) diagnosed by the Tel-Hashomer criteria in attack-free period and 38 healthy people were included in the study. Patient demographics as well as the clinical and laboratory characteristics of the healthy controls and patients with FMF were noted. The IMA levels and cIMT in patients with FMF were 0.30 ± 0.09 absorbance units (ABSUs) and 1.12 ± 0.27 mm, respectively, and in the control group, IMA levels and cIMT were 0.25 ± 0.07 ABSU and 0.74 ± 0.26 mm, respectively. The IMA levels and cIMT were significantly higher in patients with FMF than in controls ( P = .020 and P < .0001, respectively). The IMA values showed positive correlation with cIMT in patients with FMF( r = .302, P = .041). Our results reveal that IMA—an oxidative stress marker—may be an indicator of atherosclerosis in patients with FMF. This finding deserves further investigation.

MO296MEAN PLATELET VOLUME IN FAMILIAL MEDITERRANEAN FEVER RELATED AMYLOIDOSIS AND COMPARISON WITH COMMON PRIMARY GLOMERULAR DISEASES

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Tolga Yildirim ◽  
Berranur Kutahya ◽  
Fatma Is ◽  
Mehmet Erdevir ◽  
Muge Uzerk Kibar ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Renal Dysfunction ◽  
Iga Nephropathy ◽  
Membranous Glomerulonephritis ◽  
The Other ◽  
Healthy Controls ◽  
Platelet Volume ◽  
Glomerular Diseases ◽  
Factors Affecting ◽  
Mediterranean Fever

Abstract Background and Aims Compared to healthy controls, mean platelet volume (MPV) is frequently higher in patients with Familial Mediterranean fever (FMF) but lower in amyloidosis patients. The cause of differing MPV levels in FMF patients with and without amyloidosis is not clear. We hypothesized that severe proteinuria and renal dysfunction in amyloidosis could be responsible from low MPV in contrast to FMF patients without amyloidosis. We aimed to compare MPV levels of FMF patients with amyloidosis and MPV values of patients with different glomerular diseases to understand if low MPV is unique to amyloidosis or MPV is similar in all glomerular diseases indicating that it is a consequence of proteinuria and/or renal dysfunction. Method We compared pre-biopsy MPV levels of patients with amyloidosis secondary to FMF, to MPV levels of patients with membranous glomerulonephritis, focal segmental glomerulosclerosis (FSGS) and IgA nephropathy that all present with proteinuria and renal dysfunction. Factors affecting MPV were also determined. Results 703 patients (411 male, 292 female) were included in the study. Mean age was 42.6±14.3 years. There were 124 patients with amyloidosis, 224 patients with IgA nephropathy, 188 patients with membranous glomerulonephritis and 167 patients with FSGS. Patients with amyloidosis had lower MPV compared to patients without amyloidosis (7.9±1.2 fL vs. 8.2±0.9 fL respectively, p=0.008). Patients with amyloidosis had also significantly lower MPV compared to patients with each of the other diagnoses. MPV was negatively correlated with platelet count (r = - 0.351, p &lt;0.001). There was no significant correlation of MPV with serum creatinine and proteinuria. Conclusion This study is the largest study of MPV in patients with biopsy proven amyloidosis and confirms previous studies reporting low MPV in amyloidosis. This study indicates that low MPV in amyloidosis cannot be explained with severe proteinuria and renal dysfunction.

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