title: [Two brothers with familial hemophagocytic lymphohistiocytosis, treated by transplantation of stem cells from a single unrelated donor].
abstract: In two Turkish brothers familial haemophagocytic lymphohistiocytosis (FHLH) was diagnosed at 3 years and 2.5 months, respectively. FHLH is a rare autosomal recessive condition with a typical clinical presentation including prolonged fever, failure to thrive, irritability and hepatosplenomegaly. Laboratory evaluations show cytopenia (at least two out of the three cell lines), hypertriglyceridaemia and hypofibrinogenaemia. A pathognomonic sign is haemophagocytosis in bone marrow or tissue biopsy. Both patients were treated with stem-cell transplants using bone marrow and peripheral blood stem cells, respectively, from one unrelated donor. They showed a good haematological recovery, with minor complications, and at follow-up after one year were free of disease. Immune suppression can induce prolonged remission in FHLH, but cure is only achieved after a successful allogeneic stem-cell transplantation. Without transplantation, the prognosis is very poor.
authors.affiliation: Leids Universitair Medisch Centrum, afd. Kindergeneeskunde, Postbus 9600, 2300 RC Leiden.
authors.forename: K C J M
authors.initials: KC
authors.lastname: Kraal
authors.forename: R G M
authors.initials: RG
authors.lastname: Bredius
authors.forename: A C
authors.initials: AC
authors.lastname: Lankester
authors.forename: B
authors.initials: B
authors.lastname: Granzen
authors.forename: M
authors.initials: M
authors.lastname: Oudshoorn
authors.forename: R M
authors.initials: RM
authors.lastname: Egeler
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D006085:Graft Survival; D018380:Hematopoietic Stem Cell Transplantation; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D019172:Transplantation Conditioning