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

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Hemophagocytic lymphohistiocytosis


Información en español
Other Names for this Disease
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial hemophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • Hemophagocytic lymphohistiocytosis familial -1
  • HPLH1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Inheritance


Newline Maker

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.[1]

Last updated: 11/26/2012

References
  1. Kejian Zhang, Alexandra H Filipovich, Judith Johnson, Rebecca A Marsh, and Joyce Villanueva. Hemophagocytic Lymphohistiocytosis, Familial. GeneReviews. September 7, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1444/. Accessed 11/26/2012.