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A81: Spectrum of Mevalonate Kinase Deficiency: Is Colitis More Common Than We Think?

Mevalonate kinase deficiency (MKD) is an autosomal recessive inflammatory disorder caused by a mutation in the mevalonate kinase (MVK) gene. This leads to decreased enzymatic activity, resulting in impaired cholesterol biosynthesis and increased production of inflammatory mediators such as interleukin 1‐β. There are two known forms of MKD, with Hyperimmunoglobulinemia D Syndrome (HIDS) carrying a milder phenotype and Mevalonic Aciduria (MA) representing a severe form. HIDS is characterized by recurrent febrile episodes accompanied by varying clinical features that include lymphadenopathy, gastrointestinal symptoms, oral ulcers, and arthralgia. A recent report identified early onset colitis as a feature of MKD in two patients (Levy M et al, 2013). Here we report the clinical and laboratory phenotypes of patients cared for at Boston Children's Hospital who were diagnosed with HIDS/MKD.