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Impact of mevalonate kinase deficiency (MKD) on the quality of life in children and young adults: a national multicentre study


MKD is an autosomal recessive disease caused by mutations in the mevalonate kinase (MVK) gene.


To analyze the long term follow-up and health related quality of life (HRQL) in MKD.


MVK gene was analyzed in 950 consecutive patients with periodic fever. 40 MKD patients were identified. Spontaneous disease course was classified as follows: i) resolution (no episodes in the last 6 months), ii) improvement (reduction of more then 30% of fever episodes) iii) stationary iv) worsening (increase frequency of fever episodes or appearance of new major clinical manifestation).The Child Health Questionnaire (CHQ-PF 50) was used to assess the health related quality of life (HRQL). An international sample of 3315 healthy children (52.2% female), with a mean (SD) age of 11.2 (3.8) years constituted the healthy control group.


Data on follow-up are available for 31 patients. The mean follow-up was 12.9 years (range 2.3-38.2). Steroid on demand was effective in treating fever episodes. 15 patients showed a significant spontaneous reduction of the frequency of fever episodes. Complete resolution was observed in 3 patients. In 9 patients the disease was stable, in 4 worsened. When compared to healthy age-matched individuals, HRQL of MKD patients was generally affected, particularly for global health, general health perception, mental health, parental-impact emotion and self-esteem (p < 0.001).


Even if a relevant percentage of MKD patient show a spontaneous amelioration of the disease, most of them display a tendency towards a persistence of fever episodes that significantly affect their quality of life.

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This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Federici, S., Tomasini, A., Meini, A. et al. Impact of mevalonate kinase deficiency (MKD) on the quality of life in children and young adults: a national multicentre study. Pediatr Rheumatol 9 (Suppl 1), P24 (2011).

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