Relationship Between Response to Colchicine Treatment and MDR1 Polymorphism in Familial Mediterranean Fever Patients

2014 ◽  
Vol 18 (2) ◽  
pp. 73-76 ◽  
Author(s):  
Ahmet Uludag ◽  
Coskun Silan ◽  
Sinem Atik ◽  
Cisem Akurut ◽  
Aysegul Uludag ◽  
...  
2021 ◽  
Vol 67 (4) ◽  
pp. 416-420
Author(s):  
Ayşe Aydemir Ekim ◽  
Fulya Bakılan ◽  
Emel Gönüllü ◽  
Hatice Hamarat

Objectives: This study aims to determine femoral cartilage thickness using ultrasonography in familial Mediterranean fever (FMF). Patients and methods: A total of 45 patients (16 males, 29 females; mean age: 38.5±9.1 years; range, 24 to 49 years) with the diagnosis of FMF and 31 healthy individuals (6 males, 25 females; mean age: 37.0±8.7 years; range, 25 to 47 years) between January 2016 and July 2016 were included in this study. Clinical data and demographic characteristics of the patients were recorded. All FMF cases in the study were in remission with colchicine treatment. The thickness of femoral cartilage in both knees were evaluated using ultrasonography. Three measurements (mid-point) were taken from both knees (at the medial/lateral femoral condyles and intercondylar area). Results: Ultrasonographical measurements revealed that cartilage measurements of FMF patients were significantly thinner at both the medial/lateral femoral condyles and intercondylar area on the right knee and at the medial/lateral femoral condyles on the left knee (p<0.001). The cartilage measurements in FMF patients were significantly thinner at the intercondylar area on left knee, compared to those in controls (p=0.023). Conclusion: Our study showed decreased femoral cartilage thickness in FMF patients. These findings indicate that even if these patients do not have an attack, they may have subacute and chronic arthritis in their joints, and their femoral cartilage thickness can be affected.


2020 ◽  
Vol 50 (3) ◽  
pp. e10
Author(s):  
Ori Goldberg ◽  
Yoel Levinsky ◽  
Orit Peled ◽  
Gideon Koren ◽  
Liora Harel ◽  
...  

2020 ◽  
Author(s):  
Ruth Livny ◽  
Yuval Bitterman ◽  
Riva Brik ◽  
Yonatan Butbul Aviel

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive, auto-inflammatory disease, presenting with recurrent bouts of fever and polyserositis. FMF has been associated with central nervous system (CNS) manifestations such as Headache and Myalgia. The occurrence of other forms of nervous system involvement is rare, including seizures, sinus vein thrombosis, pseudotumor cerebri and more. There are only few case reports of aseptic meningitis due to FMF. Case presentation We present the case of a 14 year-old girl diagnosed with FMF, who experienced recurrent episodes of severe headache and aseptic meningitis while on maximal dose of colchicine therapy. She had a dramatic response to anakinra with symptoms resolving completely within a few days without recurrence. Subsequently, we identified seven cases in the literature describing recurrent aseptic meningitis in patients with underlying FMF; all showed response to colchicine treatment, without treatment failure. Conclusion Our case suggests a role for Interleukin 1 (IL-1) antagonists for cases of CNS involvement secondary to FMF in patients who fail to respond to colchicine, and might imply that anakinra could be effective in other auto-inflammatory diseases with CNS involvement.


2013 ◽  
Vol 12 (4) ◽  
pp. 370-377
Author(s):  
AK Daoud ◽  
WH Rajab ◽  
KM Alawneh ◽  
MA Nizar Harfiel

Rationale: We wanted to study the effects of Familial Mediterranean Fever (FMF) genetic mutations in Northern Jordan population and in vitro Colchicine treatment on the peripheral blood mononuclear cells (PBMN) production of IL-6 as a marker of disease activity. Methods: - 17 FMF patients and 9 controls were studied. (4 patients had exon 10 mutations only (M680I and V726A), 5 patients had exon 2 mutations (R202Q and E148Q) only and 8 patients with both exon mutations (compound homozygous or heterozygous M694V and R202Q). PBMN cells were incubated with Lipopolysaccharide at 100ng/ml or colchicine 10 ng/ml alone or both. Results: The results showed higher IL-6 levels in the FMF group than control for all treatment modalities, (108.97 vs. 56.49 ng/ml for unstimulated cells) with the highest levels when both exons are involved. Exon 10 mutations were associated with a higher IL-6 level than exon 2 mutations only. Exon 2 mutations alone also were associated with a higher than control IL-6 levels suggesting that it is not a polymorphism phenomenon and is involved in the pathogenesis. In vitro Colchicine treatment caused an increase in the production of IL-6 - although not as high as with LPS - for all groups. Conclusions: Mutations occurring in exon 10 are more significant than mutations occurring in exon 2, although both are contributing to the disease. However colchicine was associated with a paradoxical increase in IL-6 levels. This observation needs confirmation with different colchicine levels in the culture medium and warrants thinking about its exact mechanism of action. DOI: http://dx.doi.org/10.3329/bjms.v12i4.16659Bangladesh Journal of Medical Science Vol. 12 No. 04 October ’13 Page 370-377


2019 ◽  
Vol 49 (3) ◽  
pp. 459-463 ◽  
Author(s):  
Ori Goldberg ◽  
Yoel Levinsky ◽  
Orit Peled ◽  
Gideon Koren ◽  
Liora Harel ◽  
...  

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