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  • Title: Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.
    Author: Balta G, Okur H, Unal S, Yarali N, Gunes AM, Unal S, Turker M, Guler E, Ertem M, Albayrak M, Patiroglu T, Gurgey A.
    Journal: Leuk Res; 2010 Aug; 34(8):1012-7. PubMed ID: 20197201.
    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 (>20,000ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.
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