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Genetic and Rare Diseases Information Center (GARD)

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Hemophagocytic lymphohistiocytosis

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Other Names for this Disease
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial hemophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • Familial HLH
  • FHL
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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: 11/9/2014

References

  1. Familial hemophagocytic lymphohistiocytosis. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis. Accessed 7/22/2011.
  2. Kenneth L McClain, MD, PhD. Clinical features and diagnosis of hemophagocytic lymphohistiocytosis. UpToDate. August 27, 2014;
  3. George MR.. Hemophagocytic lymphohistiocytosis: review of etiologies and management.. J Blood Med. June 2014; 5:69-86. Accessed 11/9/2014.
  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, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1444/.
  5. Kenneth L McClain, MD, PhD. Treatment and prognosis of hemophagocytic lymphohistiocytosis. UpToDate. April 1, 2014;
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Basic Information

In Depth Information

Selected Full-Text Journal Articles

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