BMSEHA15
Published online 27 August 2009
Haematologica, Vol 95, Issue 1, 65-70 doi:10.3324/haematol.2009.007542
Copyright © 2010 by Ferrata Storti Foundation
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Hereditary Thrombocytosis

Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis

Luciana Teofili1, Fiorina Giona2, Lorenza Torti1, Tonia Cenci3, Bianca Maria Ricerca1, Carlo Rumi1, Vittorio Nunes2, Robin Foà2, Giuseppe Leone1, Maurizio Martini3, Luigi Maria Larocca3

1 Department of Hematology
3 Department of Pathology, Catholic University, Rome
2 Division of Hematology, Department of Cellular Biotechnologies and Hematology, "La Sapienza" University, Rome, Italy

Correspondence: Luigi M. Larocca, MD, Istituto di Anatomia Patologica, Università Cattolica, Largo, Gemelli 8, 00168 Roma, Italy. E-mail: llarocca{at}rm.unicatt.it

Background: The MPLSer505Asn mutation has been reported to be a cause of hereditary thrombocythemia. Recently, we detected this mutation in a large proportion of children with familial thrombocythemia, suggesting that in Italy the incidence of MPLSer505Asn mutation could be underestimated.

Design and Methods: We extended the search for this mutation to all patients with essential thrombocythemia who had a positive family history for thrombocytosis or essential thrombocythemia. We identified eight Italian families positive for the MPLSer505Asn mutation. Clinical and hematologic data were available for members of seven families, including 21 patients with a proven mutation and 20 relatives with thrombocytosis.

Results: Fifteen major thrombotic episodes, nine of which were fatal, were recorded among 41 patients. The thrombotic manifestation was stroke in four cases, myocardial infarction in seven cases, fetal loss in two cases, deep vein thrombosis of the leg in one case and Budd Chiari syndrome in one case. Almost all patients over 20 years old had splenomegaly and bone marrow fibrosis, while these were rarely observed in patients under 20 years old, suggesting that these manifestations are associated with aging. Finally, the life expectancy of family members with thrombocytosis was significantly shorter than that of members without thrombocytosis (P=0.003).

Conclusions: Patients with familial thrombocytosis caused by a MPLSer505Asn mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy.

Key words: MPLSer505Asn, hereditary thrombocytosis, splenomegaly, bone marrow fibrosis.


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