Other Names for this Disease
- Familial erythrophagocytic lymphohistiocytosis
- Familial hemophagocytic lymphohistiocytosis
- Familial histiocytic reticulosis
- Familial HLH
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;
On this page
- 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. Click on the link to view this information. 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.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.