On-demand anakinra treatment is effective in mevalonate kinase deficiency

2011 ◽  
Vol 70 (12) ◽  
pp. 2155-2158 ◽  
Author(s):  
E. J. Bodar ◽  
L. M. Kuijk ◽  
J. P. H. Drenth ◽  
J. W. M. van der Meer ◽  
A. Simon ◽  
...  
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
On Demand ◽  
Anakinra Treatment

scholarly journals Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort

2021 ◽  
Vol 11 ◽  
Author(s):  
Véronique Hentgen ◽  
Isabelle Koné-Paut ◽  
Alexandre Belot ◽  
Caroline Galeotti ◽  
Gilles Grateau ◽  
...  
Keyword(s):  
Standard Dose ◽  
Real Life ◽  
Underlying Disease ◽  
Recurrent Fever ◽  
Treat To Target ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Treatment Regimens ◽  
On Demand ◽  
Fever Syndromes

Objectives: The major role of interleukin (IL)-1 in the pathogenesis of hereditary recurrent fever syndromes favored the employment of targeted therapies modulating IL-1 signaling. However the best use of IL1 inhibitors in terms of dosage is difficult to define at present.Methods: In order to better understand the use of IL1 inhibitors in a real-life setting, our study assessed the dosage regimens of French patients with one of the four main hereditary recurrent fever syndromes (Familial Mediterranean Fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin associated periodic fever (CAPS) and mevalonate kinase deficiency). The patients were retrieved retrospectively from the JIR cohort, an international platform gathering data of patients with pediatric inflammatory diseases.Results: Forty five patients of the JIR cohort with a hereditary recurrent fever syndrome had received at least once an IL1 inhibitor (anakinra or canakinumab). Of these, 43% received a lower dosage than the one suggested in the product recommendations, regardless of the type of the IL1 inhibitor. Especially patients with FMF and TRAPS seemed to need lower treatment regimens; in our cohort none of the FMF or TRAPS patients received an intensified dose of IL-inhibitor. On-demand treatment with a short half-life IL-1 inhibitor has also been used successfully for some patients with one of these two conditions The standard dose was given to 42% of the patients; whereas an intensified dose of IL-1 inhibitors was given to 15% of the patients (44% of CAPS patients and 17% of mevalonate kinase deficiency patients). In our cohort each individual patient’s need for treatment seemed highly variable, ranging from on demand treatment regimens to intensified dosage maintenance therapies depending on the activity and the severity of the underlying disease.Conclusion: IL-1 inhibitors are a good treatment option for patients with a hereditary recurrent fever syndrome, but the individual need of the dosage of IL-1 inhibitors to control the disease effectively seems highly variable. Severity, activity but also the type of the underlying disease, belong to the parameters underpinning the treat-to-target strategy implemented in an everyday life practice.

Mevalonate Kinase Deficiency: Diagnostic and Management Challenges

2021 ◽  
Author(s):  
Puneet Kumar Choudhary ◽  
Vivek Parihar ◽  
Jagatshreya Satapathy ◽  
Narendra Kumar Bagri
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

2006 ◽  
Vol 27 (8) ◽  
pp. 796-802 ◽  
Author(s):  
Saskia H.L. Mandey ◽  
Marit S. Schneiders ◽  
Janet Koster ◽  
Hans R. Waterham
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mutational Spectrum

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

1997 ◽  
Vol 20 (3) ◽  
pp. 391-394 ◽  
Author(s):  
K. M. Gibson ◽  
G. F. Hoffmann ◽  
L. Sweetman ◽  
B. Buckingham
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Dizygotic Twin ◽  
Mevalonic Aciduria

Mevalonate Kinase Deficiency: Disclosing the Role of Mevalonate Pathway Modulation in Inflammation

2012 ◽  
Vol 18 (35) ◽  
pp. 5746-5752 ◽  
Author(s):  
Annalisa Marcuzzi ◽  
Sergio Crovella ◽  
Lorenzo Monasta ◽  
Liza Vecchi Brumatti ◽  
Marco Gattorno ◽  
...  
Keyword(s):  
Mevalonate Pathway ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase

scholarly journals A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Tiziana Coppola ◽  
Bradford Becken ◽  
Heather Van Mater ◽  
Marie Theresa McDonald ◽  
Gabriela Maradiaga Panayotti
Keyword(s):  
Case Report ◽  
Lower Extremity ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Lower Extremity Weakness

scholarly journals Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

2016 ◽  
Vol 94 (10) ◽  
pp. 994-999 ◽  
Author(s):  
Julie Jurczyluk ◽  
Marcia A Munoz ◽  
Oliver P Skinner ◽  
Ryan C Chai ◽  
Naveid Ali ◽  
...  
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Rab Gtpases ◽  
Mevalonate Kinase

scholarly journals Mevalonate kinase deficiency: current perspectives

2016 ◽  
Vol Volume 9 ◽  
pp. 101-110 ◽  
Author(s):  
Grant Schulert ◽  
Leslie Favier
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase
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