Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.
Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.
Balta
Gunay
G
Hacettepe University, Department of Pediatrics, Section of Pediatric Hematology, Ankara, Turkey.
Okur
Hamza
H
Unal
Sule
S
Yarali
Nese
N
Gunes
Adalet Meral
AM
Unal
Selma
S
Turker
Meral
M
Guler
Elif
E
Ertem
Mehmet
M
Albayrak
Meryem
M
Patiroglu
Turkan
T
Gurgey
Aytemiz
A
D003241:Consanguinity; D005260:Female; D005293:Ferritins / Q000378:metabolism; D005340:Fibrinogen / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis
D005340:Fibrinogen; D005293:Ferritins