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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
  • FHL
  • HLH
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Your Question

What is HLH and what are the symptoms of this condition?

Our Answer

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What is hemophagocytic lymphohistiocytosis?

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

What are the signs and symptoms of hemophagocytic lymphohistiocytosis?

The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. The features of this condition may include:[1][4][2][3]
  • Fever
  • Enlarged liver and/or spleen
  • Skin rash
  • Lymph node enlargement
  • Breathing problems
  • Easy bruising and/or abnormal bleeding
  • Kidney abnormalities
  • Heart problems
  • Increased risk for certain cancers (leukemia, lymphoma)

Many people with this condition also develop neurologic abnormalities. The neurological symptoms vary but may include irritability, fatigue, abnormal muscle tone, seizures, neck stiffness, mental status changes, ataxia, blindness, paralysis, and/or coma.[4][1]
Last updated: 11/9/2014

References
  • Familial hemophagocytic lymphohistiocytosis. Genetics Home Reference. January 2011; http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis. Accessed 7/22/2011.
  • Kenneth L McClain, MD, PhD. Clinical features and diagnosis of hemophagocytic lymphohistiocytosis. UpToDate. August 27, 2014;
  • George MR.. Hemophagocytic lymphohistiocytosis: review of etiologies and management.. J Blood Med. June 2014; 5:69-86. Accessed 11/9/2014.
  • 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/. Accessed 11/7/2014.
  • Kenneth L McClain, MD, PhD. Treatment and prognosis of hemophagocytic lymphohistiocytosis. UpToDate. April 1, 2014;
Other Names for this Disease
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial hemophagocytic 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.