Contributions
Abstract: PB1990
Type: Publication Only
Background
Although familial hemophagocytic lymphohistiocytosis (FHL) can manifest with combination of unremitting fever,hepatosplenomegaly and pancytopenia, FHL should be considered in unusual initial presentations.
Aims
Familial hemophagocytic lymphohistiocytosis should be considered in unusual initial presentations.
Methods
We present three cases with FHL with two novel mutations with different initial presentations.
Results
The first patient has a homozygous UNC13D stop-gain (c.2650C>T.p.Gln884Ter) mutation and presented at the age of 21months with seizures and hyperintense signal changes on T2-weighted and T2-fluid attenuated inversion recovery magnetic resonanceimaging (MRI) which was thought to be central nervous system involvement. Also she had macular widespread body rush and feverwhich was ongoing for six months. The patient responded to the HLH-2004 protocol, and allogenic hematopoetic stem celltransplantaon was planned from her healthy sister. The second and third patients were siblings that carried a homozygous STXBP2splice-site mutation (c.430-1G>A), and presented in infancy with fatal sepsis and hyperferritinemia, yet without full clinical featuresof HLH.
Conclusion
Hematologists should be vigilant regarding the varied presentations of FHL in different ages, with differentmutations.
Session topic: 24. Hematopoiesis, stem cells and microenvironment
Keyword(s): Ferritin, Immunodeficiency
Abstract: PB1990
Type: Publication Only
Background
Although familial hemophagocytic lymphohistiocytosis (FHL) can manifest with combination of unremitting fever,hepatosplenomegaly and pancytopenia, FHL should be considered in unusual initial presentations.
Aims
Familial hemophagocytic lymphohistiocytosis should be considered in unusual initial presentations.
Methods
We present three cases with FHL with two novel mutations with different initial presentations.
Results
The first patient has a homozygous UNC13D stop-gain (c.2650C>T.p.Gln884Ter) mutation and presented at the age of 21months with seizures and hyperintense signal changes on T2-weighted and T2-fluid attenuated inversion recovery magnetic resonanceimaging (MRI) which was thought to be central nervous system involvement. Also she had macular widespread body rush and feverwhich was ongoing for six months. The patient responded to the HLH-2004 protocol, and allogenic hematopoetic stem celltransplantaon was planned from her healthy sister. The second and third patients were siblings that carried a homozygous STXBP2splice-site mutation (c.430-1G>A), and presented in infancy with fatal sepsis and hyperferritinemia, yet without full clinical featuresof HLH.
Conclusion
Hematologists should be vigilant regarding the varied presentations of FHL in different ages, with differentmutations.
Session topic: 24. Hematopoiesis, stem cells and microenvironment
Keyword(s): Ferritin, Immunodeficiency