Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation


Balta G., Okur H., Unal S., Yarali N. , Gunes A. M. , Unal S., ...More

Leukemia Research, vol.34, no.8, pp.1012-1017, 2010 (Journal Indexed in SCI Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 8
  • Publication Date: 2010
  • Doi Number: 10.1016/j.leukres.2010.02.002
  • Title of Journal : Leukemia Research
  • Page Numbers: pp.1012-1017
  • Keywords: Clinical implications, Familial hemophagocytic lymphohistiocytosis, FHL, Founder effect, Genotype-phenotype, Perforin gene, W374X mutation

Abstract

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 (>20,000. ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy. © 2010 Elsevier Ltd.