Familial Hemophagocytic Lymphohistiocytosis

Barbara Degar

doi:10.1016/j.hoc.2015.06.008

Familial Hemophagocytic Lymphohistiocytosis

Hematol Oncol Clin North Am. 2015 Oct;29(5):903-13. doi: 10.1016/j.hoc.2015.06.008. Epub 2015 Aug 25.

Author

Barbara Degar¹

Affiliation

¹ Harvard Medical School, Harvard University, 25 Shattuck st., Boston, MA 02115, USA; Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, 450 Brookline Avenue, Boston, MA 02215, USA. Electronic address: barbara_degar@dfci.harvard.edu.

PMID: 26461150
DOI: 10.1016/j.hoc.2015.06.008

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare heritable disorder of immune regulation that is typically characterized by sudden onset of severe systemic illness. Functional impairment or absence of 1 or more of several proteins that participate in lymphocyte cytotoxicity underlies the disease. Although FHL usually presents in infancy, age of onset is variable and dependent on genetic and environmental factors. Initial treatment consists of immune suppression, whereas definitive treatment requires hematopoietic cell transplantation.

Keywords: FHL; Familial hemophagocytic lymphohistiocytosis; HLH; Hemophagocytic lymphohistiocytosis; Perforin; XLP.

Publication types

Review

MeSH terms

Animals
Combined Modality Therapy
Genetic Predisposition to Disease
Genetic Variation
Humans
Incidence
Lymphohistiocytosis, Hemophagocytic / diagnosis*
Lymphohistiocytosis, Hemophagocytic / epidemiology
Lymphohistiocytosis, Hemophagocytic / etiology*
Lymphohistiocytosis, Hemophagocytic / therapy*
Treatment Outcome