First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome

Arthritis Rheum. 2007 Feb;56(2):658-61. doi: 10.1002/art.22409.

Abstract

We describe for the first time a case of macrophage activation syndrome in a child with hyperimmunoglobulinemia D with periodic fever syndrome who required intensive care support. Up-regulated monokine production, high serum levels of triglycerides and ferritin, clotting abnormalities with hypofibrinogenemia, and rapidly evolving pancytopenia should alert the clinician to the possible diagnosis of macrophage activation syndrome, even in autoinflammatory diseases characterized basically by the periodic recurrence of unprovoked inflammatory attacks. Bone marrow aspiration showing well-differentiated macrophages phagocytosing hematopoietic elements remains the main tool for a final diagnosis, and cyclosporine is the best strategy for treatment.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Familial Mediterranean Fever / blood
  • Familial Mediterranean Fever / immunology*
  • Familial Mediterranean Fever / physiopathology
  • Female
  • Ferritins / blood
  • Humans
  • Hypergammaglobulinemia / complications
  • Hypergammaglobulinemia / immunology*
  • Immunoglobulin D / blood*
  • Immunoglobulin D / immunology
  • Macrophage Activation / physiology*
  • Macrophages / pathology
  • Macrophages / physiology
  • Monokines / metabolism
  • Pancytopenia / diagnosis
  • Pancytopenia / physiopathology
  • Phagocytosis / physiology
  • Syndrome
  • Triglycerides / blood

Substances

  • Immunoglobulin D
  • Monokines
  • Triglycerides
  • Ferritins

Associated data

  • OMIM/260920