scholarly journals Sacroiliitis in children and adolescents with familial Mediterranean fever

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.

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

2010 ◽  
Vol 38 (3) ◽  
pp. 516-518 ◽  
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.

scholarly journals SAT0541 THE SEVERITY OF FMF MAY BE ASSOCIATED WITH CO-MORBIDITIES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1227.3-1228
Author(s):  
M. E. Tezcan ◽  
N. Şen ◽  
M. Yilmaz ◽  
Ö. Volkan ◽  
E. Tükel ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Scoring System ◽  
Disease Duration ◽  
Severe Disease ◽  
Smoking History ◽  
Disease Group ◽  
Severity Scoring ◽  
Mild Disease ◽  
Co Morbidity ◽  
Mediterranean Fever

Background:Familial Mediterranean fever (FMF) is an auto inflammatory disease with recurrent attacks of serositis. Frequent attacks and disease related sequels may be associated with co-morbidities in FMF patients.Objectives:One of the tools for evaluating the FMF severity is the international severity scoring system for FMF (ISSF)1. This score includes disease related sequels, acute phase measurements, attack features and exertional leg pain. Therefore, more severe disease may be link with subclinical inflammation, amyloidosis and frequent, prolonged and widespread attacks. All these components may augment the frequency of non-disease related co-morbidities.Methods:We enrolled 158 FMF patients who fulfilled modifiedTel-HashomerDiagnosisCriteria2. The patients dichotomized based upon disease severity (mild disease or severe disease). Patients with ISSF scores lower or equal to 2 were accepted to have mild disease. Then, we compared frequency of non-disease related co-morbidities between the groups. These co-morbidities arehypertension, hypothyroidism, hyperthyroidism cardiovascular diseases, coronary artery diseases, cerebrovascular diseases, chronic renal disease (non-FMF related), chronic obstructive pulmonary diseases, and diabetes mellitus. This study was approved by the Local Research Ethics Committee and carried out in compliance with the Helsinki Declaration. All the patients gave written informed consent. P-value lower than 0.05 was considered as statistically significant.Results:Demographic features, disease duration, smoking history and body mass index (BMI) were similar between the groups. Frequency of co-morbidity in severe disease group was statistically higher than mild disease group (p=0.02). Most frequent co-morbidity was hypertension in both groups.Table.Features of mild and severe FMF groupsMild (n=135)Severe (n=23)pGender (M/F)47/8811/120.23Age36.4±11.336.5±14.30.68Smoking (%)38 (28.1)5 (21.7)0.52BMI (kg/m2)24.3±9.224.0±8.90.34Disease duration (year)7.7±11.38.6±14.30.09Amyloidosis (%)2 (1.4)3 (13.0)0.02Exon 10 homozygote (%)35 (25.9)9 (39.1)0.19Colchicine dosage (mg/day)1.2±0.41.4±0.50.02ISSF scores0.7 ±0.73.4±0.5<0.001Co-morbidity (%)25 (18.5)9 (39.1)0.02Conclusion:In our FMF patient cohort, we found that severity of the disease may be associated with higher frequency of co-morbidities. Therefore, clinicians should be aware of the high possibility of co-morbidities in patients with more severe FMF and addressed these co-morbidities timely and properly.References:[1]Demirkaya E, et al. Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF). Ann Rheum Dis 2016;75:1051-6.[2]Berkun Y, et al. Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev 2014;13:388-90.Acknowledgments:NoneDisclosure of Interests:None declared

RECURRENT POLYSEROSITIS ("PERIODIC DISEASE," "FAMILIAL MEDITERRANEAN FEVER") IN CHILDREN

PEDIATRICS ◽  
1962 ◽  
Vol 30 (3) ◽  
pp. 443-449
Author(s):  
Tehila R. Shapiro ◽  
Ernest N. Ehrenfeld
Keyword(s):  
Familial Mediterranean Fever ◽  
Acute Rheumatic Fever ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
C Reactive Protein ◽  
Laboratory Findings ◽  
Reactive Protein ◽  
Periodic Disease ◽  
Mediterranean Fever ◽  
The Difference

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.

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

2000 ◽  
Vol 32 (6) ◽  
pp. 504-509 ◽  
Author(s):  
A.M. Özel ◽  
L. Demirtürk ◽  
Y. Yazgan ◽  
K. Avşar ◽  
A. Günay ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Laboratory Findings ◽  
Mediterranean Fever

Familial Mediterranean Fever in Siblings

2012 ◽  
Vol 39 (11) ◽  
pp. 2170-2174
Author(s):  
Z. BIRSIN ÖZÇAKAR ◽  
BEYZA DOGANAY ERDOGAN ◽  
ATILLA H. ELHAN ◽  
FATOŞ YALÇINKAYA
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Acute Phase ◽  
Demographic Data ◽  
Intraclass Correlation ◽  
Age At Onset ◽  
Disease Onset ◽  
Acute Phase Reactant ◽  
Acute Phase Reactants ◽  
Mediterranean Fever

Objective.Genetic and environmental factors have been implicated in disease severity and development of amyloidosis in familial Mediterranean fever (FMF). We investigated similarities in clinical characteristics, disease severity, and treatment response within siblings with FMF.Methods.The study group consisted of 2 or more siblings who were followed in our center with the diagnosis of FMF. Siblings were evaluated for demographic data, clinical and laboratory disease features, genetic analysis of MEFV mutations, and disease severity score. The intraclass correlation coefficient (ICC), which can be interpreted as the expected correlation between 2 siblings, was used to reflect within-family similarity.Results.The study included 67 pediatric patients from 31 different families. When we investigated the similarity of siblings after adjusting for genetic effects, we found very low ICC with p > 0.05 in the majority of clinical features, disease severity, and colchicine dosages. However, age at disease onset, age at onset of therapy, attack-free acute-phase reactant levels, and presence of amyloidosis were found to be similar within siblings (relatively high ICC with p < 0.05).Conclusion.Siblings with FMF had different clinical findings and disease severity. They had similar amyloidogenic potential, proven by both similar presence of amyloid and increased levels of acute-phase reactants between attacks. Our findings strongly support that genetic factors may be more dominant in the development of amyloidosis.

AB1071 COEXISTENCE OF FAMILIAL MEDITERRANEAN FEVER WITH SPONDYLOARTHRITIS: CLINICAL CHARACTERISTIC AND TREATMENT OUTCOMES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1824.1-1825
Author(s):  
T. Yüce İnel ◽  
İ. Sari ◽  
M. Birlik ◽  
G. Can ◽  
F. Onen
Keyword(s):  
Familial Mediterranean Fever ◽  
Treatment Outcomes ◽  
Clinical Characteristics ◽  
Mefv Gene ◽  
Laboratory Data ◽  
Gene Mutations ◽  
Symptom Duration ◽  
Hla B27 ◽  
M694v Mutation ◽  
Mediterranean Fever

Background:Studies indicate that there is an association with spondyloarthritis (SpA) and familial mediterranean fever (FMF) based on the following: 1) increased incidence of sacroiliitis in FMF, 2) MEFV gene mutations are significantly increased in ankylosing spondylitis (AS) and 3) both SpA and FMF show some common clinical manifestations such as the pattern of arthritis. However, characteristics of SpA associated with FMF such as clinical characteristics and treatment outcomes have been poorly documented and additional data is required on this topic.Objectives:To study the clinical and treatment characteristics of patients associated with FMF and SpA.Methods:Twenty-eight patients with FMF and SpA who were registered in our database were included in the study. Demographic, clinical, and laboratory data were collected. HLA-B27, MEFV gene mutations were recorded. Pelvic radiographs and sacroiliac joint magnetic resonance imaging (MRI) (if present) were scored based on the modified New York criteria (mNYc) and ASAS MRI definitions respectively. Treatment data were also recorded.Results:There were 28 FMF-SpA patients in the study (mean age 45.1±16.4 years, 57.2% male). The mean age of onset of FMF and SpA were 31.9±17.9 and 35.5±16.2 years respectively. SpA patients were predominantly axial (n=21, 75%), and only 7 (25%) were mainly peripheral type. Fifteen (53.5%) patients were satisfying mNYc for AS. Four (14%) patients were fulfilling ASAS non radiographic axial SpA definition. Bone marrow edema was detected in (36%) of the patients who underwent MRI (n=14). Two (7.1%) patients had SpA symptoms but did not classify into any of the ASAS arms. Arthritis observed in 19 (67.8%) patients with mostly in oligoarthritis type (79%). Ankle and knees were the most affected joints. Total hip replacement was present in 7% of the patients. Amyloidosis confirmed by biopsy was detected in 4 (14%) patients. Enthesitis (11%), uveitis (11%), Chron’s disease (7%), dactylitis (3%), and psoriasis (3%) was also noted. Nearly %30 patients required non IL-1 biologic therapy (BTx) to control SpA symptoms (axial 70%, peripheral 30%). 40% of the patients needed to switch non IL-1 BTx to another biologic agent because of lack of efficacy on SpA symptoms (25%) or due to the adverse event (25%) and active FMF not responding to non IL-1 biological agent (50%).Conclusion:We showed the following: 1) more female predominance in FMF-SpA patients compared to classic SpA, 2) FMF-SpA patients had lower frequency of HLA B27, 3) up to %30 of the patients required non-IL-1 BTx to control SpA symptoms and 4) in patients on non IL-1 BTx FMF symptoms responded in 80%.Table 1.The clinical characteristics of FMF-SPA patientsAge*45.1±16.4Male, n (%)16 (57.2)SpA symptom duration,years*9.5±7.0FMF symptom duration,years*12.6±9.6HLA-B27 positivity, n (%)5 (29.4)Mainly axial involvement, n (%)21 (75)Mainly peripheral involvement, n (%)7(25)mNY positivity, n (%)15 (53.5)MEFV (M694V) mutation18MEFV (non M694V) mutation19Amyloidosis, n (%)4 (14.2)Non IL-1 biological treatment for SpA symptoms, n (%)10 (35.7)*(mean ±S.D)Disclosure of Interests:None declared

scholarly journals Endocan: A Novel Marker for Colchicine Resistance in Familial Mediterranean Fever Patients?

2021 ◽  
Vol 9 ◽  
Author(s):  
Ahmet Omma ◽  
Berkan Armaǧan ◽  
Serdar Can Güven ◽  
Sevinç Can Sandıkçı ◽  
Seda Çolak ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Acute Phase ◽  
Inflammatory Diseases ◽  
Cross Sectional Study ◽  
Control Group ◽  
Healthy Individuals ◽  
Acute Phase Reactants ◽  
Cross Sectional ◽  
Colchicine Resistance ◽  
Mediterranean Fever

Introduction: Familial Mediterranean fever (FMF) patients had 5–10% colchicine resistance. Although FMF attacks are characterized by acute phase elevation, there are no biomarkers that can show colchicine resistance yet. The serum endocan levels may elevate in inflammatory and auto-inflammatory diseases.Objectives: This study aimed to evaluate serum endocan levels in FMF patients according to whether attack and colchicine resistance or not and also compare them with classical acute phase reactants.Methods: In this single-center and cross-sectional study, a total of 111 FMF patients and 60 healthy individuals were enrolled. All patients' basic demographic and clinical data were recorded and blood samples were collected.Results: A total of 46 (41.4%) FMF patients had colchicine resistance. In comparison to the FMF patients according to colchicine response, colchicine resistance patients had a significantly higher median (IQR) endocan levels than colchicine responsive patients [36.98 ng/ml (97.41) vs. 13.57 ng/ml (27.87), p = 0.007], but there were no differences between in terms of median ESR and CRP levels. Inversely, serum endocan levels were similar during an attack and attack-free period in FMF patients, although ESR and CRP levels were significantly different. Interestingly, the highest serum endocan levels were in the control group.Conclusion: In conclusion, serum endocan levels were higher in colchicine resistance than colchicine responsive patients, but attack state had no effect on serum endocan levels in our study. Unlike ESR and CRP, serum endocan may be a novel biomarker for detection of colchicine resistance and distinguish the FMF attacks.

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

2003 ◽  
Vol 15 (3) ◽  
pp. 333-337 ◽  
Author(s):  
Ramazan Cetinkaya ◽  
Ali Riza Odabas ◽  
Yilmaz Selcuk ◽  
Fatih Albayrak
Keyword(s):  
Familial Mediterranean Fever ◽  
Laboratory Findings ◽  
Mediterranean Fever
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