Published January 1, 2010
| Version v1
Journal article
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Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation
Creators
- 1. Diskapi SSK Educ & Res Hosp, Sect Pediat Hematol, Ankara, Turkey
- 2. Uludag Univ, Dept Pediat, Sect Pediat Hematol, Bursa, Turkey
- 3. Mersin Univ, Dept Pediat, Sect Pediat Hematol, Mersin, Turkey
- 4. Tepecik SSK Educ Hosp, Sect Pediat Hematol, Izmir, Turkey
- 5. Gaziantep Univ, Sect Pediat Oncol, Oncol Hosp, Gaziantep, Turkey
- 6. Ankara Univ, Sect Pediat Hematol, Dept Pediat, TR-06100 Ankara, Turkey
- 7. Gazi Univ, Dept Pediat, Sect Pediat Hematol, Ankara, Turkey
- 8. Erciyes Univ, Dept Pediat, Sect Pediat Hematol, Kayseri, Turkey
- 9. Hacettepe Univ, Fac Med, Dept Pediat, Sect Pediat Hematol, TR-06100 Ankara, Turkey
Description
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. (C) 2010 Elsevier Ltd. All rights reserved.
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