Hemophagocytic lymphohistiocytosis and macrophage activation syndrome: two rare sides of the same devastating coin

Adv Rheumatol. 2024 Apr 16;64(1):28. doi: 10.1186/s42358-024-00370-2.

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare genetic hyperinflammatory syndrome that occurs early in life. Macrophage activation syndrome (MAS) usually refers to a secondary form of HLH associated with autoimmunity, although there are other causes of secondary HLH, such as infections and malignancy. In this article, we reviewed the concepts, epidemiology, clinical and laboratory features, diagnosis, differential diagnosis, prognosis, and treatment of HLH and MAS. We also reviewed the presence of MAS in the most common autoimmune diseases that affect children. Both are severe diseases that require prompt diagnosis and treatment to avoid morbidity and mortality.

Keywords: Cytokines; Hemophagocytic lymphohistiocytosis; Juvenile idiopathic arthritis; Macrophage activation syndrome.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases* / complications
  • Child
  • Diagnosis, Differential
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / complications
  • Lymphohistiocytosis, Hemophagocytic* / diagnosis
  • Macrophage Activation Syndrome* / diagnosis
  • Macrophage Activation Syndrome* / etiology