Amyloidosis due to familial Mediterranean fever: clinical and laboratory findings in 51 patients

A series of 19 cases of recurrent polyserositis is presented. All but one child were of Oriental Jewish parentage, and the disease sometimes showed a familial occurrence. The average age of onset was 4 years. The symptoms consisted of fever; abdominal, chest, and joint pains; and skin eruptions. The clinical manifestations often simulated those of acute rheumatic fever, particularly since cardiac murmurs occurred in more than half of the patients. The laboratory findings were those accompanying nonspecific inflammations such as leukocytosis, accelerated enythrocyte sedimentation rate, elevated antistreptolysin titer, and positive C-reactive protein. Though some patients showed transitional albuminunia, no cases of amyloidosis were found. The difference in the clinical manifestations in children as compared with adults, and possible etiological factors are discussed.

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Familial Mediterranean fever A review of the disease and clinical and laboratory findings in 105 patients

Digestive and Liver Disease ◽

10.1016/s1590-8658(00)80008-0 ◽

2000 ◽

Vol 32 (6) ◽

pp. 504-509 ◽

Cited By ~ 22

Author(s):

A.M. Özel ◽

L. Demirtürk ◽

Y. Yazgan ◽

K. Avşar ◽

A. Günay ◽

...

Keyword(s):

Familial Mediterranean Fever ◽

Laboratory Findings ◽

Mediterranean Fever

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Sacroiliitis in children and adolescents with familial Mediterranean fever

Advances in Rheumatology ◽

10.1186/s42358-021-00188-2 ◽

2021 ◽

Vol 61 (1) ◽

Author(s):

Hülya Kaçmaz ◽

Esin Aldemir ◽

Ayşe Tanatar ◽

Şerife Gül Karadağ ◽

Mustafa Çakan ◽

...

Keyword(s):

Familial Mediterranean Fever ◽

Heel Pain ◽

Common Mutation ◽

Low Back ◽

Hla B27 ◽

Acute Phase Reactants ◽

Laboratory Findings ◽

Co Morbidity ◽

Mediterranean Fever ◽

Involvement Rate

Abstract Background Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis. Sacroiliitis can be observed in some FMF patients. This study aimed to compare the demographic, clinical, and laboratory findings, and treatment in children with FMF and sacroiliitis, and children with juvenile spondyloarthropathy (JSpA). Methods In total, 1687 pediatric FMF patients that were followed-up between May 2010 and June 2020 were evaluated retrospectively. Among them, those with sacroiliitis (n = 63) were included in the study and compared to patients with JSpA (n = 102). Results The study included 63 FMF patients with sacroiliitis (38 males [60.3%] and 25 females [39.7%]) with a mean age of 15.2 ± 4.1 years. Mean age at symptom onset was 7.2 ± 5.05 years and mean age at diagnosis was 9.74 ± 4.67 years. The most common mutation in the FMF patients was M694V/M694V (n = 22). Patients were diagnosed with sacroiliitis with a mean of 12 months (range: 6–36 months) after the diagnosis of FMF. Among the FMF patients, 28 (44.4%) had enthesitis, 23 (36.5%) had heel pain, and 11 (17.4%) had low back pain. The study also included 102 JSpA patients (90 males [88.2%] and 12 females [11.8%]). Mean age of patients with JSpA was 16.1 ± 2.8 years. As compared to 102 JSpA patients, patients with FMF and sacroiliitis had higher acute phase reactants, whereas HLA-B27 positivity rate was lower. In addition, axial involvement rate was higher in the JSpA patients. Conclusion Sacroiliitis is a common co-morbidity in FMF patients. The phenotypic features of these patients are different from patients with JSpA.

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Anti-Interleukin 1 Treatment for Patients with Familial Mediterranean Fever Resistant to Colchicine: Table 1.

The Journal of Rheumatology ◽

10.3899/jrheum.100718 ◽

2010 ◽

Vol 38 (3) ◽

pp. 516-518 ◽

Cited By ~ 94

Author(s):

SEZA ÖZEN ◽

YELDA BILGINER ◽

NURAY AKTAY AYAZ ◽

MERAL CALGUNERI

Keyword(s):

Familial Mediterranean Fever ◽

Acute Phase ◽

Interleukin 1 ◽

Acute Phase Reactants ◽

Laboratory Findings ◽

Protein Levels ◽

Reactive Protein ◽

Small Series ◽

Mediterranean Fever ◽

Colchicine Therapy

Objective.Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder characterized by recurrent attacks of fever and serositis. Although colchicine is the standard therapy for preventing attacks and suppressing inflammation, 5%–10% of compliant patients are colchicine-resistant. We report the effect of anti-tumor necrosis factor therapy (etanercept) and anti-interleukin 1 (IL-1) treatment (anakinra) in 6 cases resistant to colchicine therapy.Methods.Five children and an adult patient (3 female, 3 male) who were experiencing at least 2 attacks per month and had consistently elevated C-reactive protein levels despite regular colchicine therapy were given either etanercept or anakinra.Results.Although etanercept lowered the number of attacks (from 3–4 attacks per month to 2 attacks per month), attacks still recurred and acute-phase reactants remained high in 2 patients; thus etanercept was considered ineffective. All 4 patients were switched to anakinra. In 2 patients anakinra completely resolved clinical and laboratory findings. The other 4 patients have been switched to anakinra recently; to date anakinra has reduced the number of attacks (to < 1 per month) and lowered the levels of acute-phase reactants.Conclusion.In this small series, anakinra was succesful in suppressing inflammation and decreasing the number of attacks in FMF. This may be explained by the role of pyrin in the regulation of IL-1ß activation.

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The Comparison of Diagnostic Criteria in Children with Familial Mediterranean Fever

10.21203/rs.3.rs-705764/v1 ◽

2021 ◽

Author(s):

Esra Nagehan Akyol Onder ◽

Kudret Ebru Özcan ◽

Feride Iffet Sahin ◽

Kaan Savas Gulleroglu ◽

Esra Baskin

Keyword(s):

Familial Mediterranean Fever ◽

Diagnostic Criteria ◽

Autoinflammatory Disease ◽

High Sensitivity ◽

Clinical Findings ◽

Classification Criteria ◽

Laboratory Findings ◽

Simple Method ◽

Group A ◽

Mediterranean Fever

Abstract Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized with recurrent attacks of fever and serositis. The diagnosis is made according to clinical findings and supported by genetic analysis. The most used adult diagnostic criteria are the Tel-Hashomer criteria. The pediatric criteria for the FMF diagnosis of children were described in 2009, but their efficacy should be supported with further reports. In this study, we planned to compare the pediatric criteria and the Tel-Hashomer criteria in our FMF patients. We also aimed to evaluate the importance of the 2019 Eurofever/PRINTO classification criteria in this patient group. A total of 113 patients diagnosed with FMF were included in our study. Demographic features and laboratory findings were retrospectively recorded from the patients’ files. The patients were evaluated with the Tel-Hashomer, pediatric and Eurofever/PRINTO classification criteria. At least two of five new pediatric criteria were as sensitive (88.6%) and specific (84.62%) as the Tel-Hashomer criteria (sensitivity 69.9%, specificity 95.7%). We also evaluated the Eurofever/PRINTO classification criteria in our patients and found its sensitivity 93.8% and specificity 90.6%. Conclusion: Using pediatric criteria in the diagnosis of FMF in children is a feasible and simple method that can diagnose the disease based on at least two criteria. Therefore, our study supports the use of pediatric criteria in the diagnosis of FMF in children. Our results also confirm that the Eurofever/PRINTO classification criteria can be successfully used in the diagnosis of FMF due to their high sensitivity (93.8%) and specificity (90.6%).

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High prolidase levels in patients with Familial Mediterranean Fever (FMF)

Romanian Journal of Internal Medicine ◽

10.2478/rjim-2019-0025 ◽

2020 ◽

Vol 58 (1) ◽

pp. 27-33

Author(s):

Meliha Bayram ◽

Mehmet Emin Derin ◽

Halef Okan Doğan ◽

Gökmen Asan ◽

Mehtap Şahin ◽

...

Keyword(s):

Familial Mediterranean Fever ◽

Hypoxia Inducible Factor ◽

Immunological Response ◽

Serum Levels ◽

Control Group ◽

Laboratory Findings ◽

Median Serum ◽

Healthy Control ◽

Mediterranean Fever

AbstractIntroduction. Familial Mediterranean Fever (FMF) is an autoinflammatory disease. Prolidase is a specific imidodipeptidase that plays a role in collagen degradation, and an important role in inflammation and wound healing. Hypoxia-inducible factor-1α (HIF-1) is an important protein in the regulation of immunological response, hemostasis, vascularization. The aim of the study was to compare serum prolidase and HIF-1α levels in patients with FMF in attack-free period and healthy control group.Methods. Between August 2017 and December 2017, sixty patients diagnosed with FMF according to the criteria of the Tel-hashomer and admitted to Sivas Cumhuriyet University Medical Faculty, Internal Medicine Rheumatology Department and sixty healthy volunteers were enrolled in the study.Results. Median serum prolidase levels were 72.1 (25.1–114.9) ng/ml in FMF group and 30.7 (21.3–86.2) ng/mL in healthy control (HC) group (p = 0.018). ROC analysis showed that the sensitivity was 65% and the specificity was 68.3% at serum prolidase levels 54.03 ng/mL (p < 0.05). The median serum levels of HIF-1α in the FMF group was 482.0 (292.0–3967.0) pg/mL and 632.0 (362.0–927.0) pg/mL in the HC group (p > 0.05). There was no significant correlation between laboratory findings, sex, age, and prolidase (p > 0.05).Conclusion. Serum prolidase enzyme levels in FMF patients with attack-free period were significantly higher than in the HC group. However, the role of prolidase and HIF1-α in the FMF disease needs to be clarified with more extensive and comprehensive studies.

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Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF)

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2015-208671 ◽

2016 ◽

Vol 75 (6) ◽

pp. 1051-1056 ◽

Cited By ~ 32

Author(s):

Erkan Demirkaya ◽

Cengizhan Acikel ◽

Philip Hashkes ◽

Marco Gattorno ◽

Ahmet Gul ◽

...

Keyword(s):

Familial Mediterranean Fever ◽

Disease Severity ◽

Severity Score ◽

Characteristic Curve ◽

Severe Disease ◽

Clinical Manifestations ◽

Future Research ◽

Laboratory Findings ◽

Therapeutic Decisions ◽

Mediterranean Fever

ObjectiveTo develop widely accepted international severity score for children and adult patients with familial Mediterranean fever (FMF) that can be easily applied, in research and clinical practice.MethodsCandidate severity criteria were suggested by several FMF expert physicians. After three rounds of Delphi survey, the candidate criteria, defined by the survey, were discussed by experts in a consensus meeting. Each expert brought data of clinical manifestations, laboratory findings and physician's global assessments (PGAs) of minimum 20 patients from their centres. We used the PGAs for disease severity as a gold standard. Logistic regression analysis was used to evaluate the predicting value of each item, and receiver operating characteristic curve analysis was performed to demonstrate the success of the criteria set.ResultsA total of 281 patients consist of 162 children and 119 adults with FMF were enrolled and available for validity analysis: Nine domains were included in the final core set of variables for the evaluation of disease severity in FMF. The International Severity Score for FMF (ISSF) may reach a maximum of 10 if all items are maximally scored. The threshold values to determine: severe disease ≥6, intermediate disease 3–5, mild disease ≤2. Area under the curve was calculated as 0.825 for this set in the whole group.ConclusionsThe initial validity of ISSF both in children and adult with FMF was demonstrated. We anticipate that it will provide a robust tool to objectively define disease severity for clinical trials, future research as well as for therapeutic decisions in managing patients with FMF.

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