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Diseases

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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Tests & Diagnosis

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Is genetic testing available for hemophagocytic lymphohistiocytosis?

Yes. Clinical genetic testing is available for the four genes known to cause familial hemophagocytic lymphohistiocytosis, types 2-5. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. Molecular genetic testing is not available for familial hemophagocytic lymphohistiocytosis, type 1 because the genetic cause is currently unknown.[1]

Genetic testing is not available for acquired HLH because it is caused by non-genetic factors.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 11/10/2014

How is hemophagocytic lymphohistiocytosis diagnosed?

A diagnosis of hemophagocytic lymphohistiocytosis (HLH) is based on the presence of certain signs and symotoms. A person is considered affected by this condition if they have at least five of the following symptoms:[1][2]
  • Fever
  • Enlarged spleen
  • Cytopenia (lower-than-normal number of blood cells)
  • Elevated levels of triglycerides or fibrinogen in the blood
  • Hemophagocytosis (the destruction of certain types of blood cells by histiocytes) on bone marrow, spleen or lymph node biopsy
  • Decreased or absent NK cell activity
  • High levels of ferritin in the blood
  • Elevated blood levels of CD25 (a measure of prolonged immune cell activation)
The diagnosis of familial HLH, types 2-5 can be confirmed with genetic testing.[1]
Last updated: 11/10/2014

References
  1. 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.
  2. Zhang L, Zhou J, Sokol L. Hereditary and acquired hemophagocytic lymphohistiocytosis. Cancer Control. October 2014; 21(4):301-312. Accessed 11/10/2014.


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.