Familial Mediterranean fever gene (MEFV) mutations as a modifier of systemic lupus erythematosus

Lupus ◽  
2012 ◽  
Vol 21 (9) ◽  
pp. 993-998 ◽  
Author(s):  
Y Shinar ◽  
E Kosach ◽  
P Langevitz ◽  
G Zandman-Goddard ◽  
R Pauzner ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Familial Mediterranean Fever ◽  
Lupus Erythematosus ◽  
Activity Index ◽  
Mefv Gene ◽  
Damage Index ◽  
Mefv Mutation ◽  
Systemic Lupus ◽  
Mutation Carriers ◽  
Mediterranean Fever

The objective of this study was to assess the prevalence of the Mediterranean FeVer ( MEFV) gene mutations in systemic lupus erythematosus (SLE) patients and their effect on organ involvement, as well as disease activity and severity. The frequencies of three familial Mediterranean fever-related MEFV gene mutations ( M694V, V726A and E148Q) were investigated in 70 SLE patients. Organ involvement, Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) damage index and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores were correlated with mutation carriage. Eleven of 70 patients (15.7%) were found to carry an MEFV mutation. A single patient harbored two mutations, E148Q and V726A, without overt familial Mediterranean fever while the rest were heterozygous carriers. Four of the 11 carried an M694V mutation, four carried V726A and two carried E148Q. The majority of MEFV mutation carriers were Sephardic while non-carriers were mainly of Ashkenazi origin (72.7% vs. 45.7% and 47.4% vs. 9.1%, respectively, p = 0.02). SLE onset was significantly earlier in MEFV carriers (27.6 ± 9.7 vs. 38.2 ± 15.5 years, in carriers vs. non-carriers, p = 0.02). Hematologic and serologic parameters were comparable among mutation carriers and non-carriers. Febrile episodes were more common among MEFV mutation carriers (45.4% vs. 15.2%, p = 0.035) and there was a trend for excess episodes of pleuritis as well (54.5% vs. 23.7%, p = 0.06 in carriers vs. non-carriers, respectively). The frequency of secondary anti-phospholipid antibody syndrome was equivalent among the groups. Conversely, compound urinary abnormalities and renal failure was not observed among MEFV carriers yet was present in 33.4% and 18.6% of non-carriers ( p = 0.027 and 0.19, respectively). SLICC damage index and SLEDAI activity index did not differ significantly between the groups. MEFV mutation carriage appears to modify the SLE disease phenotype in that it contributes to an excess of inflammatory manifestations such as fever and pleuritis on the one hand, while thwarting more severe renal involvement on the other.

scholarly journals AB0419 THE COEXISTENCE OF FAMILIAL MEDITERRANEAN FEVER (FMF) IN SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) PATIENTS - A CROSS SECTIONAL STUDY

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1509.1-1510
Author(s):  
T. Klein ◽  
S. Tiosano ◽  
A. Chohen ◽  
H. Amital
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Familial Mediterranean Fever ◽  
Lupus Erythematosus ◽  
Cross Sectional Study ◽  
Review Of The Literature ◽  
Sectional Study ◽  
Systemic Lupus ◽  
Cross Sectional ◽  
Mediterranean Fever ◽  
Age And Sex

Background:Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease characterized by multisystem inflammatory lesions affecting many organ systems in the body. Familial Mediterranean fever (FMF) is an autosomal recessive disease of chronic autoimmune inflammation characterized by frequently relapsing self-limiting fever and inflammation that may be localized in peritoneum, pleura, joint or skin.1Previous studies have described the similarity of clinical symptoms of FMF among SLE patients. However, the literature on this topic is inconsistent and based mostly on case reports.2-4Objectives:To examine the proportions of coexistence of FMF among SLE patients compared to the general population. We hypothesized that the proportion of FMF among SLE patients is higher than the general population.Methods:This cross-sectional study used the Clalit Health Services database, the largest Health Maintenance Organization in Israel, serving 4,400,000 members. SLE patients were compared to age- and sex-matched controls. Chi- was used for univariate analysis.Results:The study included4886 SLEpatients and 24430 age- and sex-matched controls. The SLE group had a significantly higher proportion of FMF patients compared to non-SLE controls (0.68% and 0.21% respectively; p < 0.001).Table 1. All study populationTable 1.SLE patients and matched controls basic characteristicsNo SLESLEp.overallN=24430N=4886Age51.2±16.551.2±16.51.000Gender: Female20100 (82.3%)4020 (82.3%)1.000FMF52 (0.21%)33 (0.68%)<0.001Table 2. StratificationTable 2.comparison of FMF patients with and without SLEFMF without SLEFMF with SLEp.overallN=52N=33Age44.6±13.750.5±17.70.106Gender: Female45 (86.5%)26 (78.8%)0.523Conclusion:FMF was found to be more common amongst SLE patients compared to matched controls.The current study results suggest that the occurrence of SLE turn patients with an appropriate genetic and environmental setting to develop also FMF. This cross-sectional study sheds light on the coexistence of these two diseases, autoimmune and autoinflammatory.References:[1]Kucuk A, Gezer IA, Ucar R, Karahan AY. Familial mediterranean fever.Acta Medica (Hradec Kralove). 2014;57(3):97-104.[2]Lidar M, Zandman-Goddard G, Shinar Y, Zaks N, Livneh A, Langevitz P. SLE and FMF: A possible negative association between the two disease entities–report of four cases and review of the literature.Lupus. 2008;17(7):663-669.[3]Erten S, Taskaldiran I, Yakut ZI. Are systemic lupus erythematosus patients carrying MEFV gene less prone to renal involvement? report of three cases and review of the literature.Ren Fail. 2013;35(7):1013-1016.[4]Shinar Y, Kosach E, Langevitz P, et al. Familial mediterranean Fever gene (MEFV) mutations as a modifier of systemic lupus erythematosus.Lupus. 2012;21(9):993-998.Disclosure of Interests: :None declared

scholarly journals SAT0232 PERCEPTION OF THE DISEASE IN PATIENTS WITH EARLY SYSTEMIC LUPUS ERYTHEMATOSUS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1059.3-1059
Author(s):  
M. Garabajiu ◽  
L. Mazur-Nicorici ◽  
T. Rotaru ◽  
V. Salaru ◽  
S. B. Victoria ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Systemic Lupus Erythematosus ◽  
Disease Activity ◽  
Lupus Erythematosus ◽  
Disease Duration ◽  
Activity Index ◽  
Damage Index ◽  
Organ Damage ◽  
Systemic Lupus

Background:Systemic lupus erythematosus is an autoimmune disease with a major impact on patient’s quality of life.Objectives:To evaluate patient’s attitude toward early disease and factors that influence it.Methods:Performed case-control study included SLE patients that fulfilled SLICC, 2012 classification criteria. The research included two groups of patients: early SLE – 1stgroup (disease duration ≤24 months) and non-early SLE – 2ndgroup control (disease duration >24 months). The pattern of the disease activity was assessed by patient global assessment (PGA), Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) and Systemic Lupus Activity Measure (SLAM), for SLE activity, SLICC/ACR Damage Index (DI) for disease irreversible changes and SF-8 for the Quality of Life (QoL).Results:A total of 101 SLE patients with 34 in the 1stgroup (early SLE) and 67 in the 2ndgroup (non-early SLE) was analyzed. The disease activity showed high disease activity in both groups by SLEDAI (7,02±4,16 and 6,26±4,43 points, p>0,05) and SLAM (7,47±4,40 and 7,31±4,10 points, p>0,05) such as (46,97±19,39 vs 47,98±22,41 points). The QoL was appreciated as low, by both components (mental and physical), in groups. The damage index was higher in the 2nd group (0,23±0,43 and 1,07±1,29, p<0,001), which can be explained by the development of irreversible changes with the increase of disease duration.The PGA in early SLE was influenced by subjective symptoms contained in SLAM index (r=0,48, p<0,05), such as fatigue and depression, and the level of the quality of life (r=0,65, p<0,001). Meantime, PGA in patients with longer disease duration (>2 years), was influenced by the presence of organ damage by SLICC/ACR DI (0,23, p<0,05) and objective findings of the disease activity contained in SLEDAI (r=0,33, p<0,005) and SLAM (0,44, p<0,001).Conclusion:The disease recognition in patients with early SLE was determined by subjective and psycho-emotional signs, while in patients with longer disease duration it was influenced by organ damage and complications.References:no referencesDisclosure of Interests:None declared

Quality of life measures and psychiatric symptoms in adolescents with systemic lupus erythematosus and familial Mediterranean fever

2014 ◽  
Vol 26 (4) ◽  
pp. 541-549 ◽  
Author(s):  
Yasemin Düzçeker ◽  
Nuray Ö. Kanbur ◽  
Erkan Demirkaya ◽  
Orhan Derman ◽  
Lakshmi N. Moorthy ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Systemic Lupus Erythematosus ◽  
Familial Mediterranean Fever ◽  
Lupus Erythematosus ◽  
Psychiatric Symptoms ◽  
Brief Symptom Inventory ◽  
Systemic Lupus ◽  
Global Quality Of Life ◽  
Mediterranean Fever

Abstract Purpose: To describe the relation between global Quality of Life (QL) and psychiatric symptoms in adolescents with systemic lupus erythematosus (SLE) and familial Mediterranean fever (FMF), and to analyze the perceptions of parents and adolescents. Methods: This study included 51 adolescents diagnosed with SLE (n=25) and FMF (n=26), and 51 healthy adolescents. The Health Related QL (HRQL) of SLE patients was rated by parents and adolescents using the Simple Measurement of Impact of Lupus Erythematosus in Youngsters© (SMILEY©). The global QL of FMF patients and healthy adolescents was rated by the response given to the first question of the SMILEY© by each parent and adolescent. All participants completed the Brief Symptom Inventory (BSI), which measures psychiatric symptoms. Results: In total, 92.3% with FMF, 56% with SLE and 76.5% of healthy adolescents reported their global QL as good and very good using the first question of the SMILEY©. The global QL perceptions of adolescents and their parents did not correlate (FMF, p=0.94; SLE, p=0.16). SLE patients had the highest rate of depression (54.2%), whereas hostility was detected among 54.9% of healthy adolescents. Significant relations were detected between BSI and SMILEY© scores. Conclusion: The global QL perceptions of adolescents with FMF were better than those of healthy adolescents, which may be explained by their perceived relief of anguish they suffer during their short-lived attacks. The global QL perceptions of adolescents with SLE were the worst, most probably due to the chronic course resulting in an awareness of limitations and intense treatment. Adolescents with SLE had similar psychopathological symptom scores when compared with FMF patients and healthy adolescents. This could be explained by developing resilience. Differences in the perception of adolescents versus their parents regarding global QL emphasized the importance of adolescent-specific interviews for chronic illnesses and multidisciplinary follow-up with adolescent medicine.

scholarly journals Serum uric acid is associated with damage in patients with systemic lupus erythematosus

2020 ◽  
Vol 7 (1) ◽  
pp. e000366 ◽  
Author(s):  
Claudia Elera-Fitzcarrald ◽  
Cristina Reátegui-Sokolova ◽  
Rocio Violeta Gamboa-Cardenas ◽  
Mariela Medina ◽  
Francisco Zevallos ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Uric Acid ◽  
Serum Uric Acid ◽  
Lupus Erythematosus ◽  
Cox Regression ◽  
Activity Index ◽  
Damage Index ◽  
Systemic Lupus ◽  
The Impact

IntroductionSerum uric acid levels have been reported as predictors of cardiovascular, pulmonary, neurological and renal morbidity in patients with SLE. However, their role in cumulative global damage in these patients has not yet been determined.ObjectiveTo determine whether serum uric acid levels are associated with new damage in patients with SLE.MethodsThis is a longitudinal study of patients with SLE from the Almenara Lupus Cohort, which began in 2012. At each visit, demographic and clinical characteristics were evaluated, such as activity (Systemic Lupus Erythematosus Disease Activity Index-2K or SLEDAI-2K) and cumulative damage (Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index or SDI). Treatment (glucocorticoids, immunosuppressive drugs and antimalarials) was also recorded. Univariable and multivariable Cox regression models were used to determine the impact of serum uric acid levels on the risk of new damage.ResultsWe evaluated 237 patients, with a mean age (SD) at diagnosis of 35.9 (13.1) years; 220 patients (92.8%) were women, and the duration of the disease was 7.3 (6.6) years. The mean SLEDAI-2K and SDI scores were 5.1 (4.2) and 0.9 (1.3), respectively. Serum uric acid level was 4.5 (1.4) mg/dL. Follow-up time was 3.1 (1.3) years, and 112 (47.3%) patients accrued damage during follow-up. In univariable and multivariable analyses, serum uric acid levels were associated with new damage (HR=1.141 (95% CI 1.016 to 1.282), p=0.026; HR=1.189 (95% CI 1.025 to 1.378), p=0.022, respectively).ConclusionHigher serum uric acid levels are associated with global damage in patients with SLE.

scholarly journals Measuring Disease Activity and Damage with Validated Metrics: A Systematic Review on Mortality and Damage in Systemic Lupus Erythematosus

2018 ◽  
Vol 45 (10) ◽  
pp. 1448-1461 ◽  
Author(s):  
Stephanie O. Keeling ◽  
Ben Vandermeer ◽  
Jorge Medina ◽  
Trish Chatterley ◽  
Tatiana Nevskaya ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Disease Activity ◽  
Lupus Erythematosus ◽  
Activity Index ◽  
Damage Index ◽  
Disease Activity Index ◽  
Evaluation Methodology ◽  
Systemic Lupus ◽  
Increased Risk ◽  
Damage Accrual

Objective.To identify the effect of disease activity and damage, measured by validated indices, on mortality and damage accrual, in order to inform upcoming Canadian systemic lupus erythematosus (SLE) recommendations.Methods.Following GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology to fill in evidence-to-decision tables to create recommendations for “minimal investigations needed to monitor SLE patients at baseline and subsequent visits,” a systematic literature review was performed. The effect of disease activity and damage, measured by validated metrics, on mortality and damage was systematically reviewed, with metaanalyses performed when available.Results.A title/abstract screen of 5599 articles identified 816 articles for full paper review, with 102 meeting inclusion criteria and 53 with extractable data. Thirty-three articles describing outcomes related to disease activity and 20 articles related to damage were identified. Mortality was associated with higher SLE Disease Activity Index-2000 scores in 6 studies (HR 1.14, 95% CI 1.06–1.22) and higher Systemic Lupus International Collaborating Clinics/ACR Damage Index scores in 6 studies (HR 1.53, 95% CI 1.28–1.83). Higher SLE Activity Measure scores were associated with increased risk of damage in 3 studies (OR 1.06, 95% CI 1.04–1.08). British Isles Lupus Assessment Group was associated with mortality in 1 study with HR of 1.15.Conclusion.Active SLE disease and damage are associated with and predict greater mortality and damage. The use of validated disease activity and damage metrics is important in the assessment of disease activity and damage and will inform upcoming Canadian recommendations for the assessment of SLE.

FRI0414 Systemic Lupus Erythematosus with Coexisting Familial Mediterranean Fever

2014 ◽  
Vol 73 (Suppl 2) ◽  
pp. 537.2-537
Author(s):  
K. Ginosyan ◽  
V. Vardanyan ◽  
A. Beglaryan ◽  
A. Ayvazyan
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Familial Mediterranean Fever ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Mediterranean Fever

scholarly journals Comment on: Coexistence of systemic lupus erythematosus and familial Mediterranean fever in a pediatric patient

Lupus ◽  
2016 ◽  
Vol 25 (14) ◽  
pp. 1623-1624
Author(s):  
F M Kelesoglu ◽  
B Saracoglu ◽  
A Ciftkaya ◽  
R B Durmus ◽  
S Kaya ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Familial Mediterranean Fever ◽  
Pediatric Patient ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Mediterranean Fever
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