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Case Rep Pediatr. 2018 Aug 26;2018:3514645. doi: 10.1155/2018/3514645. eCollection 2018.

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.

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Infection and Inflammation and Rheumatology Section, University College London Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1 E1H, UK.
National Amyloidosis Centre, University College London Division of Medicine, London, UK.
National Hospital of the Faroe Islands, J. C. Svabos Gøta, Tórshavn 100, Faroe Islands.
Department of Paediatrics, Pediatric Rheumatology Clinic, Palle Juul-Jensens Boulevard 99, 8200 Aarhus N, Denmark.


Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic episodes of severe systemic inflammation, poor quality of life, and life-threatening sequelae if inadequately treated. We report the case of a 12-year-old girl with MKD and severe autoinflammation that was resistant to IL-1 and TNF-α blockade. In view of this, she commenced intravenous tocilizumab (8 mg/kg every 2 weeks), a humanised monoclonal antibody targeting the IL-6 receptor (IL-6R) that binds to membrane and soluble IL-6R, inhibiting IL-6-mediated signaling. She reported immediate cessation of fever and marked improvement in her energy levels following the first infusion; after the fifth dose, she was in complete clinical and serological remission, now sustained for 24 months. This is one of the first reported cases of a child with MKD treated successfully with tocilizumab and adds to the very limited experience of this treatment for MKD. IL-6 blockade could therefore be an important addition to the armamentarium for the treatment of this rare monogenic autoinflammatory disease.

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