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

作者：Balta Gunay; Okur Hamza; Unal Sule; Yarali Nese; Gunes Adalet Meral; Unal Selma; Turker Meral; Gulerf Elif; Ertem Mehmet; Albayrak Meryem; Patiroglu Turkan; Gurgey Aytemiz^*

来源：Leukemia Research, 2010, 34(8): 1012-1017.

DOI：10.1016/j.leukres.2010.02.002

• Familial hemophagocytic lymphohistiocytosis
• FHL
• Perforin gene
• W374X mutation
• Clinical implications
• Genotype-phenotype
• Founder effect

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.

• 出版日期2010-8