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Periodic Fever Syndrome and Developmental Delay

  • Per Wekell
  • Stefan Berg
  • Anders Fasth
Chapter

Abstract

The key to diagnosis of mevalonate kinase deficiency, hyper-IgD syndrome (MKD/HIDS) is recurrent fever attacks of 4–6 days, associated with aphthous stomatitis, enlargement of lymph nodes, splenomegaly, abdominal pain, diarrhea, and rash

MKD is a rare autosomal recessive disease caused by mutations in the MVK gene leading to reduced mevalonate kinase activity

Extremely low MVK activity leads to mevalonic aciduria (complete MKD or MVA) associated with developmental delay, progressive ataxia and decreased life expectancy in addition to febrile attacks

Treatment depends on the severity of the condition and includes:

 on demand treatment with glucocorticoids

 on demand or continuous treatment with IL-1 blockade

 allogeneic hematopoietic stem cell transplantation in mevalonic aciduria

In partial MKD/HIDS, episodes often decrease in severity with age

Keywords

Mevalonate kinase deficiency Hyper-IgD syndrome Mevalonic aciduria 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Per Wekell
    • 1
    • 2
  • Stefan Berg
    • 2
    • 3
  • Anders Fasth
    • 2
    • 3
  1. 1.Department of PediatricsNU Hospital GroupUddevallaSweden
  2. 2.Department of PediatricsSahlgrenska Academy, University of GothenburgGothenburgSweden
  3. 3.Department of Rheumatology and ImmunologyQueen Silvia Children’s HospitalGothenburgSweden

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