scholarly journals Two Sisters with Colchicine-Resistant form of Familial Mediterranean Fever on the Canakinumab Therapy: Clinical Case

2020 ◽  
Vol 18 (5) ◽  
pp. 362-368
Author(s):  
Elena A. Ligostaeva ◽  
Nadezhda A. Tsurikova ◽  
Irina A. Tsiganok ◽  
Nataliya N. Kobzeva ◽  
Vadim Yu. Avdeenko
Keyword(s):  
Familial Mediterranean Fever ◽  
Clinical Case ◽  
Resistant Form ◽  
Mediterranean Fever

scholarly journals FAMILIAL MEDITERRANEAN FEVER COMPLICATED BY CHRONIC KIDNEY DISEASE STAGE 5 DESCRIPTION OF THE CLINICAL CASE

2021 ◽  
Vol 127 (4) ◽  
pp. 44-47
Author(s):  
Maria Palchukovska ◽  
Lyudmila Liksunova
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Familial Mediterranean Fever ◽  
Replacement Therapy ◽  
Clinical Case ◽  
Chronic Kidney Disease Stage ◽  
Disease Stage ◽  
Ckd Stage ◽  
Mediterranean Fever ◽  
End Stage

this clinical case demonstrates renal amyloidosis – the most severe complication of familial Mediterranean fever (FMF). This clinical case gives an example of rapid evolution of renal failure in the lack of treatment. 62 years old man, Armenian, consults  a physician with such complaints as evening fever up to 38° for a month, frequent urination and dark urine. Biochemical blood test revealed an increase in the following indices: creatinine-489 μmol / l, urea 28.3 μmol / l, uric acid 619 μmol / l. GFR-6ml / min. No amyloid deposits were detected by biopsy of the buccal mucosa. The diagnosis of FMF, chronic kidney disease (CKD) stage 5. Initiation of treatment. Tenkhoff catheter installation. Treatment includes сontinuous ambulatory peritoneal dialysis (CAPD) in mode 4 exchanges with a glucose solution of 1.36% 2.0 liters. The dynamics of treatment is positive in  presence of constant replacement therapy. A feature of this clinical case is the insidious development of secondary (AA) amyloidosis in uncontrolled patient, which leads to the development of end-stage chronic kidney disease (CKD). This case demonstrates the need of constant examination and treatment of the patients with end-stage CKD by renal replacement therapy, which significantly reduces the quality of patient`s life.

scholarly journals Familial mediterranean fever: clinical case

2019 ◽  
Vol 10 (1) ◽  
pp. 101-107
Author(s):  
Roman S. Saykovskiy ◽  
S. V. Sadovnikova
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
History Of Research ◽  
Mediterranean Origin ◽  
History Of ◽  
Mediterranean Fever ◽  
Methods Of Treatment

Background. Familial Mediterranean fever (FMF) is the brightest exponent of autoinflammatory diseases. FMF usually occurs to people of Mediterranean origin (Jews, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians). This is a hereditary disease with the autosomal recessive inheritance. Includes history of research, epidemiology FMF, variants of the disease course, methods of treatment. Clinical case description. A 61-year-old woman arrived complaining of weakness, fever, joint pain. First sign of disease showed at 20-years-old. When she came in: WBC 20.1–109/l, HGB 6.7 g/ml, ESR 60 mm/h, CRP 100 mg/l, CRP 202 μmol/L, UREA 19.7 mmol/L. Quantity of protein in one liter of urine 0.160 g. Ultrasonic signs of pyelectasis in both kidneys. The diagnosis was made on the basis of characteristic attacks of fever, polyarthritis, thoracalgia of Armenian nationality patient. The diagnosis was confirmed by the detection of amyloidosis and genetic data. Conclusion. Knowledge of the FMF clinical profile is important for differential diagnosis with many acute conditions, e.g. acute abdomen, myocardial infarction, pneumothorax, rheumatic diseases. It is important to remember that untimely diagnosis and improper treatment lead to the development of AA-amyloidosis (30–40%) with the outcome of renal failure.

E148Q of the MEFV Gene Causes Amyloidosis in Familial Mediterranean Fever Patients

PEDIATRICS ◽  
2001 ◽  
Vol 108 (1) ◽  
pp. 215-215 ◽  
Author(s):  
N. Akar ◽  
E. Akar ◽  
F. Yalcinkaya; ◽  
G. J. Halpern ◽  
A. Mimouni ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Mediterranean Fever

scholarly journals AB0730 ASSOCIATION OF SPONDYLOARTHRITIS AND FAMILIAL MEDITERRANEAN FEVER AND IMPACT ON DISEASE PHENOTYPE: A SYSTEMATIC REVIEW OF THE LITERATURE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1659.3-1659
Author(s):  
N. Ziade ◽  
A. Nassar
Keyword(s):  
Disease Management ◽  
Familial Mediterranean Fever ◽  
Literature Search ◽  
Association Studies ◽  
Case Reports ◽  
Genome Wide Association Studies ◽  
Systematic Literature Search ◽  
Disease Phenotype ◽  
Mefv Mutation ◽  
Mediterranean Fever

Background:Spondyloarthritis (SpA) and Familial Meditaerranean fever (FMF) may co-exist in certain populations, and have some overlapping manifestations (oligo-arthritis, hip involvement). Their association may impact disease phenotype and may affect disease management.Objectives:To evaluate the association of SpA and FMF and its impact on disease phenotype and management.Methods:A systematic literature search was conducted with the keywords spondyloarthritis and familial mediterranean fever from Janurary 1990 to January 2020 in PubMed and using manual cross-reference methods.Results:The search retrieved 74 articles, out of which 37 articles were relevant to the study question; most of the articles were case reports, with some large cohort studies of FMF and SpA (Flowchart in Figure 1).In large FMF cohorts, the prevalence of SpA was higher compared to the general population (7.5-13%, OR around 10). M694V was a risk factor for SpA. These FMF-SpA patients were older at diagnosis, had lower fever attacks, and higher disease duration, inflammatory back pain, chronic arthritis, enthesopathy, persistent inflammation and higher resistance to Colchicine. In case series, they were responsive to anti-TNF therapy.In large SpA cohorts, MEFV mutation, particularly M694V, was found in 15-35% (even without associated FMF). In most cohorts, MEFV mutation carriers didn’t have any distinct disease phenotype, except for some reports of higher ESR, more hip involvement, higher BASFI and higher BASDAI. Genome-wide association studies and case reports suggest an implication for IL-1 and thus a role for Anakinra therapy in these patients.Conclusion:In FMF or SpA patients with resistance to conventional therapy, the evaluation of disease association should be performed as it may have significant impact on disease management.References:[1]Li et al, Plos Genetics 2019. Watad et al, Frontiers Immunol 2019. Atas et al, Rheumatol Int 2019. Cherqaoui et al, JBS 2017. Zhong et al. Plos One 2017. Ornek et al, Arch Rheumatol 2016. Cinar et al, Rheumatol Int 2008. Durmur et al, JBS 2007.Figure 1.Flowchart of the systematic literature search (Spondyloarthritis, Familial Mediterranean Fever; January 1990-2020).Disclosure of Interests:Nelly Ziade Speakers bureau: Abbvie, Janssen, Lilly, Novartis, Pfizer, Roche, Sanofi, Aref Nassar: None declared

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

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