Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hemophagocytic lymphohistiocytosis, familial, 1

Disorder
OMIM #: %267700  (Click to access OMIM database)
Disorder: Hemophagocytic lymphohistiocytosis, familial, 1 
Also known as: FHL
HPLH
HLH
Reticulosis, familial histiocytic
Hemophagocytic reticulosis, familial
Erythrophagocytic lymphohistiocytosis familial
FEL 
Clinical
Phenotype: Disease presents at 3 months of age, hepatomegaly, lymphadenopathy, high fever, hemolytic anemia, raised platelet counts, clinically resembles acute leukemia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
Unknown
Last updated: 2007-08-02 

References
Cutbush W, De Veber LL, and Rathbun JC. (1974) Familial histiocytosis (Abstract) Canad. Res. Soc. Meeting, St. John's Newfoundland .  
De Veber LL. (1974) Personal Communication. London, Ontario, Canada.  
Donohue WL. (1968) Personal Communication. Toronto, Ontario, Canada.  

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