Hemophagocytic Syndrome

Synonyms

Hemophagocytic lymphohistiocytosis; Macrophage activation syndrome (MAS, in case of association with a rheumatic disease); Malignancy-associated hemophagocytic syndrome (MAHS)

Definition

Hemophagocytic syndrome is a life-threatening condition in which activation of T-lymphocytes and macrophages results in a hyperinflammatory state and pancytopenia with characteristic phagocytosis of hematopoietic cells. There are primary or familial forms, due to mutations in, among others, the perforin gene, familial hemophagocytosis (more often referred to as familial hemophagocytic syndrome), and secondary forms associated with a variety of infections, immune diseases, or neoplasms.

Clinical Features

Incidence

Hemophagocytic syndrome is a very rare disease, approximately 1.2 per million, but may go unrecognized due to its rapid progression and similarities with sepsis.

Age

Familial forms present most often in infants in the first year of life, but also in children that are older; rare cases...