Periodic Fever Syndromes

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

“…Treatments to increase GGPP, anti IL-Anakinra [17,29], Anti1L-I Canakinumab [30] and allogenic bone marrow transplant have had some success particularly for hyper IgD syndrome [31]. Prenatal diagnosis is possible with mevalonate measurements, enzyme activity and preferably mutation studies [32,33].…”