%A Laccetta,Gianluigi %A Tutera,Maria %A Miccoli,Mario %A Consolini,Rita %D 2017 %J Frontiers in Pediatrics %C %F %G English %K Mevalonate Kinase Deficiency,anakinra,Health related quality of life,Autoinflammatory diseases,Fever %Q %R 10.3389/fped.2017.00128 %W %L %M %P %7 %8 2017-June-07 %9 Case Report %+ Gianluigi Laccetta,Department of Pediatrics, Faculty of Medicine, University of Pisa,Italy,gianluigi.laccetta@uniroma1.it %# %! HRQOL in a patient with MKD after anakinra %* %< %T Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene %U https://www.frontiersin.org/articles/10.3389/fped.2017.00128 %V 5 %0 JOURNAL ARTICLE %@ 2296-2360 %X Mevalonate kinase deficiency impairs several aspects of the patient’s quality of life, thus early diagnosis and treatment are required to improve health-related quality of life (HRQOL). A 15-year-old patient with double heterozygosity for the mutations 1129G>A and 928G>A in MVK gene, heterozygosity for the mutation 2107C>A in CIAS1 gene and hyper-IgD syndrome phenotype, has been treated with anakinra with a reduction of 50% in the number of fever episodes per month, a reduction of 33% in the days of fever for each attack and normal blood tests in the intercritical phase. The RAND 36-Item Health Survey has been used for the assessment of HRQOL before and after the treatment with anakinra. The patient’s quality of life showed an overall improvement of 27%; results showed a better improvement in role limitations due to physical health (50%).