AB1065 VISIT COMPLIANCE IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER: RESULTS FROM A GAZI UNIVERSITY FMF COHORT

Background:Follow-up in all rheumatologic patients is critical, particularly Familial Mediterranean Fever (FMF). Current recommendations for all experts by the EULAR state that patients with FMF should be evaluated 6-monthly intervals to monitore the character and frequency of the attacks and the acute phase response. Disease-related complications such as amyloidosis can beasymptomaticand need only a careful follow-up.Objectives:to quantify this phenomenon and to find predictive factors of visit compliance in patients with FMF.Methods:The study included 474 adult patients with a diagnosis of FMF who followed at the outpatient rheumatology clinic of tertiary university hospital, from January 2018 to December 2018. . Demographic, socioeconomic data, familiy history, comorbid disease, medication history, characteristics, the International Severity Score for FMF (ISSF),autoinflammatory disease damage index (ADDI) were recorded. Visit compliance was defined as the presence of two visits in the outpatient rheumatology clinic for FMF last one year for the purposes set out in EULAR suggestion.Those who had fewer than two visits in the last one year were considered noncompliant.Results:230 (48.5%) were compliant while 244 (51.5 %) patients were noncompliant with their rheumatology visit. Both compliant and noncompliant patients had similar median age and disease duration. Female sex and being married was increased the visit compliance.The results of the logistic regression model exploring factors associated with compliance indicated that presence of family history in parents, absence of family history in sibling, treatment with biologic agents, other drug using,presence of more than 2 attacks except fever and adequate medical care were important predictors of visit compliance.Conclusion:In conclusion, if FMF patients visit compliance increase, their functionality, medication adherence and quality of life will increase and flares and complication of disease can decrease. Thus, we highlight some recommendations for FMF specialist, patients and health care providers to improve outcomes.Table 2.Multivariate logistic regression analysis for predictive factors of visit compliance of the patients with FMF, n=430Adj. OR%95 CI**pFamily history in parents(positive history vs negative)1,81,0-3,10.03Family history in sibling(negative history vs positive)1,91,2-3,10.004Comorbid disease status1,30,7-2,50.32Treatment(anakinra&canakinumab vs colchicine)3,71,7-8,20.001Drug using(other drugs vs FMF drugs)2,21,1-4,40.01More than 2 attacks except fever2,31,2-4,00.004Chronic peripheral arthritis2,30,8-6,60.10Proteinuria2,20,7-6,70.14Adequate medical care1,91,2-3,10.003Number of index flare within last 12-month0,90,9-1,00.38ISSF severity score0,80,7-1,10,30Disclosure of Interests:None declared

Download Full-text

POS1372 EVALUATION OF E148Q AND CONCOMITANT AA AMYLOIDOSIS SECONDARY TO FAMILIAL MEDITERRANEAN FEVER AFTER ADJUSTED CLINICAL-DEMOGRAPHIC CHARACTERISTICS

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2021-eular.3420 ◽

2021 ◽

Vol 80 (Suppl 1) ◽

pp. 968.1-968

Author(s):

Z. S. Arici ◽

M. Romano ◽

D. Piskin ◽

F. Guzel ◽

M. Yilmaz ◽

...

Keyword(s):

Family History ◽

Familial Mediterranean Fever ◽

Allele Frequency ◽

Demographic Characteristics ◽

Renal Amyloidosis ◽

Histopathological Diagnosis ◽

Aa Amyloidosis ◽

History Of ◽

Mediterranean Fever

Background:Amyloid A (AA) amyloidosis, previously known as secondary or reactive amyloidosis, is a long-recognized severe complication of some chronic inflammatory diseases. The pathogenesis and risk factors for amyloidosis in Familial Mediterranean Fever (FMF) remain partially understood (1). The development of AA amyloidosis is dependent on ethnicity and country of residence (2). In the pre-colchicine era, renal AA-amyloidosis was largely reported patients of Turkish (67%) and Sephardic Jewish ancestry (26.5%) (2,3). Currently it’s well known that the MEFV M694V variant associated with high risk of amyloidosis however, mutations on exon 2, specifically E148Q variant remained controversial.Objectives:To evaluate the E148Q mutation variant and concomitant AA Amyloidosis secondary to FMF after adjusted clinical-demographic characteristics.Methods:Patients were recruited from the renal unit at Epigenetic Health Center outpatient clinic in Turkey between September 2003 and February 2020. Patients who had biopsy confirmed FMF related AA amyloidosis were included the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. The clinical characteristics of FMF patients and medication history were recorded by the physician at the time of registry entry. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. We performed multiple comparisons according to the age of diagnosis, demographic features, disease phenotype, allele frequency, type of mutation and mortality. Statistical analysis was performed with Statistical Package of Social Science (SPSS) for Windows, version 15.0 (SPSS Inc, Chicago, IL).Results:Our registry consists of 195 patients with a diagnosis of AA amyloidosis. Complete information on 169 patients (lost to follow up, n=26) were included. The median age was 36 (19-49) years; male/female ratio was 1.6 (104/65). The median follow-up duration was 15.0 years (4-17 years). There were 101 patients diagnosed with FMF <18 years of age and 68 patients diagnosed ≥18 years of age. All participants developed renal amyloidosis before the age of 32 years. Family history of FMF was documented in 56 patients (33.1%) and family history of amyloidosis was present in 41 patients (24.3%). The three most common clinical symptoms were fever (84,6%), abdominal pain (71.6%) and arthritis (66.9%). During the follow-up, 5 patients started dialysis treatment and 9 patients had kidney transplantation. The most common allele frequency across patients was M694V (60.6%), E148Q (21.4%) and M680I (10.3%). The most frequent mutations were M694V/M694V (63.3%), M694V/E148Q (20.8%) and E148Q/E148Q (15.8%). During the follow up period, 15 patients (10 male, 5 female) died. In those that died, the mutations in 14 had M694V/M694Vand one demonstrated E148Q/E148Q.Conclusion:Patients with FMF related AA amyloidosis have an increased risk for mortality. This study confirmed the association between M694V and FMF-associated AA amyloidosis, which has been reported in many studies. Close clinical follow-up and further evaluation of patients with the E148Q mutation is warranted specifically if residing in FMF endemic areas. The possible relationship between E148Q and AA amyloidosis need to be confirmed in other cohorts.References:[1]Erer B, Demirkaya E, Ozen S, Kallinich T. What is the best acute phase reactant for familial Mediterranean fever follow-up and its role in the prediction of complications? A systematic review. Rheumatology international. 2016;36(4):483-7.[2]Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis and rheumatism. 2007;56(5):1706-12.[3]Pras M, Bronshpigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J. 1982;150(1):22-6.Disclosure of Interests:None declared

Download Full-text

AB0968 Adrenomedullin Levels in Patients with Familial Mediterranean Fever: A Long Term Follow-Up

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2015-eular.6129 ◽

2015 ◽

Vol 74 (Suppl 2) ◽

pp. 1222.2-1222

Author(s):

A. Polat ◽

C. Saglam ◽

Y.G. Kurt ◽

G. Basbozkurt ◽

B. Sozeri ◽

...

Keyword(s):

Familial Mediterranean Fever ◽

Long Term Follow Up ◽

Mediterranean Fever

Download Full-text

Infliximab therapy for familial Mediterranean fever-related amyloidosis: case series with long term follow-up

Clinical Rheumatology ◽

10.1007/s10067-012-2009-1 ◽

2012 ◽

Vol 31 (8) ◽

pp. 1267-1271 ◽

Cited By ~ 21

Author(s):

Z. Birsin Özçakar ◽

Selçuk Yüksel ◽

Mesiha Ekim ◽

Fatoş Yalçınkaya

Keyword(s):

Familial Mediterranean Fever ◽

Case Series ◽

Infliximab Therapy ◽

Long Term Follow Up ◽

Mediterranean Fever

Download Full-text

White matter hyperintensities predict dementia in poststroke patients with cognitive impairment no dementia (CIND)

European Psychiatry ◽

10.1016/s0924-9338(11)72197-6 ◽

2011 ◽

Vol 26 (S2) ◽

pp. 490-490

Author(s):

Y.K. Chen ◽

E. Lee ◽

J.Y. Lu ◽

W.C.W. Chu ◽

V.C.T. Mok ◽

...

Keyword(s):

Logistic Regression ◽

Cognitive Impairment ◽

White Matter ◽

White Matter Hyperintensities ◽

Hippocampal Volume ◽

Cognitive Domain ◽

Nihss Score ◽

One Year ◽

Cognitive Impairment No Dementia

IntroductionLongitudinal studies of predicting dementia conversion of poststroke cognitive impairment no dementia (CIND) are limited.ObjectiveTo investigate the clinical and imaging predictors of dementia conversion in poststroke patients with CIND.AimTo understand dementia conversion of CIND.Methods143 patients with CIND (defined as impairment in at least one cognitive domain without meeting the criteria of dementia) at three months after stroke were recruited and followed up for one year. Dementia was diagnosed using the criteria of Diagnostic and Statistical Manual of Mental Disorders (4th edition, DSM-IV). MRI measurements including infarction, microbleeds, white matter hyperintensities (WMHs) and hippocampal volume were conducted. Logistic regression was performed to find the predictors of dementia at follow-up.Results16 (11.2%) out of the 143 patients developed dementia 15 months after stroke. In univariate comparisons, subjects with dementia at follow-up had older age (78.0 ± 5.3 vs.71.5 ± 8.5 years, p = 0.003) and higher NIHSS score (7.1 ± 3.5 vs.4.7 ± 3.3, p = 0.005) on admission. They also had higher frequency of old infarcts in the thalamus (31.3% vs. 11.0%, p = 0.025), larger volume of old infarcts (4.2 ± 11.2 vs. 0.7 ± 2.6 cm3, p < 0.001) and WMHs volume (33.2 ± 34.0 vs. 14.2 ± 14.1 cm3, p = 0.016). In logistic regression, age (odds ratio [OR] =1.203, 95%C.I.=1.054-1.373, p = 0.006), NIHSS score on admission (OR = 1.324, 95%C.I.=1.082-1.619, p = 0.006) and WMHs volume (OR = 1.045, 95%C.I.=1.007-1.084, p = 0.019) were significant predictors of dementia at follow-up.ConclusionsWMHs volume predicts dementia in poststroke patients with CIND, suggesting subcortical ischemic vascular disease was an important origin of poststroke delayed dementia.

Download Full-text

Familial Mediterranean Fever in Mexico City: 10-Year Follow-up

Archives of Internal Medicine ◽

10.1001/archinte.1994.00420120143019 ◽

1994 ◽

Vol 154 (12) ◽

pp. 1411

Author(s):

José H. Cherem

Keyword(s):

Familial Mediterranean Fever ◽

Mexico City ◽

Mediterranean Fever

Download Full-text

Is the IL-6 -174G/C Gene Polymorphism Related to the Disease Severity Score in Turkish Children with Familial Mediterranean Fever?

Biochemical Genetics ◽

10.1007/s10528-016-9764-7 ◽

2016 ◽

Vol 54 (6) ◽

pp. 886-893

Author(s):

Samet Özer ◽

Resul Yilmaz ◽

Ergün Sonmezgoz ◽

Şeyma Ünuvar ◽

Ömer Ates

Keyword(s):

Familial Mediterranean Fever ◽

Gene Polymorphism ◽

Disease Severity ◽

Severity Score ◽

Disease Severity Score ◽

Turkish Children ◽

Mediterranean Fever

Download Full-text

Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever

Journal of Clinical Medicine ◽

10.3390/jcm10163511 ◽

2021 ◽

Vol 10 (16) ◽

pp. 3511

Author(s):

Zehra Serap Arici ◽

Micol Romano ◽

David Piskin ◽

Ferhat Guzel ◽

Sezgin Sahin ◽

...

Keyword(s):

Familial Mediterranean Fever ◽

Clinical Phenotype ◽

Clinical Manifestations ◽

Histopathological Diagnosis ◽

Close Monitoring ◽

Aa Amyloidosis ◽

Homozygous Genotype ◽

Age Of Diagnosis ◽

Mediterranean Fever

The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. Multiple comparisons were performed according to the age of diagnosis, disease phenotype, mutation, and mortality. Our study included 169 patients with a diagnosis of AA amyloidosis. There were 101 patients diagnosed with FMF < 18 years of age and 68 patients diagnosed who were ≥18 years of age. The three most common clinical manifestations were fever (84.6%), abdominal pain (71.6%), and arthritis (66.9%). The most common allele among FMF patients was M694V (60.6%), followed by E148Q (21.4%), and M680I (10.3%). The most frequent genotypes were M694V/M694V (45.0%), M694V/E148Q (14.8%), and E148Q/E148Q (11.2%) among 169 patients in our cohort. During the follow-up period, 15 patients (10 male, 5 female) died, of whom 14 had M694V homozygous genotype and one was homozygous for E148Q. Clinicians should be aware of patients with homozygous E148Q genotype for close monitoring and further evaluation. The possible relationship between E148Q and AA amyloidosis needs to be confirmed in other ethnicities.

Download Full-text