Hemophagocytic Lymphohistiocytosis in Adolescents and Young Adults: Genetic Predisposition and Secondary Disease

Med Clin North Am. 2024 Jan;108(1):189-200. doi: 10.1016/j.mcna.2023.05.019. Epub 2023 Jul 11.


Hemophagocytic lymphohistiocytosis (HLH) is a disorder of impaired immune regulation resulting in hyperinflammation that is ultimately fatal if not treated. HLH is categorized into familial disease, caused by genetic mutations affecting the function of cytotoxic T lymphocytes and natural killer cells, and secondary disease, triggered by infections, malignancies, rheumatologic disorders, or immune deficiency. Adolescent and young adults with HLH represent a unique population with specific diagnostic challenges. Here we review the diagnostic criteria, possible etiologies, pathophysiology, and management of HLH with focus on the adolescent population.

Keywords: Adolescents; Familial HLH; Hemophagocytic lymphohistiocytosis (HLH); Primary immunodeficiency; Secondary HLH; Young adults.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Genetic Predisposition to Disease
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / diagnosis
  • Lymphohistiocytosis, Hemophagocytic* / genetics
  • Lymphohistiocytosis, Hemophagocytic* / therapy
  • Mutation
  • Neoplasms* / complications
  • Young Adult