Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Hemophagocytic lymphohistiocytosis


Other Names for this Disease
  • Familial hemophagocytic lymphohistiocytosis
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • FHL
  • HLH
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes).[1] People with HLH usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood cells), and neurological abnormalities.[2][3] HLH may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired HLH. There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene. The genetic cause of type 1 is currently unknown. Types 2-5 are caused by mutations in the PRF1 gene, the UNC13D gene, the STX11 gene and the STXBP2 gene, respectively.[4] Treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition.[4][5]
Last updated: 6/10/2016

References

  1. Familial hemophagocytic lymphohistiocytosis. Genetics Home Reference. November 2014; http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis.
  2. Kenneth L McClain, MD, PhD. Clinical features and diagnosis of hemophagocytic lymphohistiocytosis. UpToDate. July 29, 2015;
  3. George MR.. Hemophagocytic lymphohistiocytosis: review of etiologies and management.. J Blood Med. June 2014; 5:69-86. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062561/.
  4. Kejian Zhang, MD, MBA, Alexandra H Filipovich, MD, Judith Johnson, MS, Rebecca A Marsh, MD, and Joyce Villanueva, MT, MBA.. Hemophagocytic Lymphohistiocytosis, Familial. GeneReviews. January 17, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1444/.
  5. Kenneth L McClain, MD, PhD. Treatment and prognosis of hemophagocytic lymphohistiocytosis. UpToDate. October 15, 2015;
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

In Depth Information

Selected Full-Text Journal Articles

Other Names for this Disease
  • Familial hemophagocytic lymphohistiocytosis
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • FHL
  • HLH
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.