Abstract
Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory syndrome that can lead to significant morbidity. Evidence-based guidelines are lacking and management is mostly based on physician’s experience. Consequently, treatment regimens differ throughout Europe. In 2012, a European initiative called SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) was launched to optimize and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases.
Highlights
Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory syndrome that can lead to significant morbidity
Recommendations derived from the literature were evaluated by an online survey
Sixteen recommendations were suggested in the online survey and discussed during the consensus meeting
Summary
Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory syndrome that can lead to significant morbidity. Evidence-based guidelines are lacking and management is mostly based on physician’s experience. In 2012, a European initiative called SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) was launched to optimize and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases
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