Other Names for this Disease
- Familial erythrophagocytic lymphohistiocytosis
- Familial hemophagocytic lymphohistiocytosis
- Familial histiocytic reticulosis
- Familial HLH
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immune cells (macrophages and lymphocytes). 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. 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. Treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition.Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated
Last updated: 11/9/2014
- 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/.
- Kenneth L McClain, MD, PhD. Treatment and prognosis of hemophagocytic lymphohistiocytosis. UpToDate. April 1, 2014;
- The Cincinnati Children's Hospital has an information page on Hemophagocytic lymphohistiocytosis. Click on the link to view this information page.
- Genetics Home Reference (GHR) contains information on Hemophagocytic lymphohistiocytosis. This website is maintained by the National Library of Medicine.
- The Histiocytosis Association of America has an information page on hemophagocytic syndromes. Click on Histiocytosis Association to view the information page.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Familial hemophagocytic lymphohistiocytosis, type 1
Familial hemophagocytic lymphohistiocytosis, type 2
Familial hemophagocytic lymphohistiocytosis, type 3
Familial hemophagocytic lymphohistiocytosis, type 4
Familial hemophagocytic lymphohistiocytosis, type 5
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hemophagocytic lymphohistiocytosis. Click on the link to view a sample search on this topic.
- Fisman DN. Hemophagocytic Syndromes and Infection. Emerging Infectious Diseases. 2000; 6(6): 601-608.