MKD*

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Epidemiology

Red gender

Gender ratio

1 : 1

Red incidence

Prevalence

>300 cases

Disease presentation

Genetic grounds

The disease shows an autosomal recessive inheritance (i.e., each parent must give a mutated gene for a child to develop the disease). The involved mutated gene is MVK coding for mevalonate kinase involved in cholesterol synthesis.

Main clinical symptoms

picto feverElevated fever with chills

picto Abdo painAbdominal pain

picto Muco cutanneousMouth ulcers

Biological signs

Red upIncrease of C-reactive protein (CRP)

Red downDecrease of mevalonate

Therapy

  • Anti-IL-1 (e.g. Anakinra, Canakinumab)
  • Corticosteroids
  • Anti-IL-6 (e.g. Tocitizumab)

*Mevalonate Kinase Disease, also known as Hyper-IgD syndrome (HIDS)