Learn About Hemophagocytic Lymphohistiocytosis

What is the definition of Hemophagocytic Lymphohistiocytosis?
Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). Symptoms may include fever, enlarged liver or spleen, cytopenia (decreased number of blood cells), and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired HLH. Each subtype is caused by a change in a different gene. The genetic cause of type 1 is currently unknown. Types 2-5 are caused by genetic changes in the PRF1 gene, the UNC13D gene, the STX11 gene and the STXBP2 gene, respectively. When HLH results from an inappropriate immune response to Epstein-Barr virus or another viral illness, it may be due to a separate genetic condition called X-linked lymphoproliferative disease (XLP). XLP is caused by a genetic change in the SH2D1A or XIAP gene and is inherited in an X-linked manner.
Save information for later
Sign Up
What are the alternative names for Hemophagocytic Lymphohistiocytosis?
  • Familial hemophagocytic lymphohistiocytosis
  • FHL
  • Familial HLH
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • HLH
Who are the top Hemophagocytic Lymphohistiocytosis Local Doctors?
Learn about our expert tiers
Learn more
What are the latest Hemophagocytic Lymphohistiocytosis Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Hemophagocytic Lymphohistiocytosis?
Tired of the same old research?
Check Latest Advances