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Hemophagocytic lymphohistiocytosis

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Other Names for this Disease
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial hemophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • Hemophagocytic lymphohistiocytosis familial -1
  • HPLH1
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What is hemophagocytic lymphohistiocytosis?

Is hemophagocytic lymphohistiocytosis inherited?

Is genetic testing available for familial hemophagocytic lymphohistiocytosis (FHL)?

What is hemophagocytic lymphohistiocytosis?

Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal condition in which certain white blood cells (histiocytes and lymphocytes) build up in organs including the skin, spleen, and liver, and destroy other blood cells. This causes fever and damages the liver and spleen, resulting in enlargement of these organs. HLH may be inherited or it may be caused by certain conditions or diseases including infections and immunodeficiency (inability of the body to fight infections). It most commonly affects young infants and children.[1][2] Treatment includes antibiotics or antiviral medications to treat or prevent infections, and chemotherapy and immunotherapy prior to allogeneic hematopoietic cell transplantation.[3]
Last updated: 11/26/2012

Is hemophagocytic lymphohistiocytosis inherited?

Hemophagocytic lymphohistiocytosis (HLH) may be familial (inherited) or secondary (acquired or reactive).

Familial hemophagocytic lymphohistiocytosis (FHL) is inherited in an autosomal recessive manner. This means that 2 mutated copies of the disease-causing gene (one inherited from each parent) are necessary to cause the condition. The parents of an individual with an autosomal recessive condition typically carry one mutated copy of the gene and are referred to as carriers. When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier.

Secondary HLH is not inherited and is usually associated with:

Secondary HLH is difficult to distinguish from familial HLH by clinical or histologic findings alone. Genetic testing is typically recommended even in HLH that is suspected to be acquired.[3]

Last updated: 11/26/2012

Is genetic testing available for familial hemophagocytic lymphohistiocytosis (FHL)?

Yes. While the diagnosis of FHL is made based on the presence of clinical criteria, it is confirmed by molecular genetic testing. Genetic testing for the four identified genes in which mutations cause the condition is available on a clinical basis. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the two disease-causing mutations in the family are known.[3] In some affected individuals, the genetic cause of the disorder is unknown.[4]

GeneTests lists the names of laboratories that are performing genetic testing for FHL. To view the contact information for the clinical laboratories conducting testing, click here and then click on "Testing" for each type of FHL. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 11/26/2012

  1. Fisman DN. Hemophagocytic Syndromes and Infection. Emerging Infectious Diseases. March 2009; Accessed 7/21/2011.
  2. Familial hemophagocytic lymphohistiocytosis. Genetics Home Reference. January 2011; Accessed 7/22/2011.
  3. Kejian Zhang, Alexandra H Filipovich, Judith Johnson, Rebecca A Marsh, and Joyce Villanueva. Hemophagocytic Lymphohistiocytosis, Familial. GeneReviews. September 7, 2010; Accessed 11/26/2012.
  4. Familial hemophagocytic lymphohistiocytosis. Genetics Home Reference. January 2011; Accessed 11/26/2012.