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Semin Thromb Hemost 2013; 39(08): 928-934
DOI: 10.1055/s-0033-1357485
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Hypercoagulability, Parkinsonism, and Gaucher Disease

Hanna Rosenbaum
1   Department of Hematology and Bone Marrow Transplantation, Rambam Health Care Campus, Haifa, Israel
2   Bruce Rappaport Faculty of Medicine, Technion—Israel Institute of Technology, Haifa, Israel
,
Judith Aharon-Peretz
2   Bruce Rappaport Faculty of Medicine, Technion—Israel Institute of Technology, Haifa, Israel
3   Department of Cognitive Neurology, Rambam Health Care Campus, Haifa, Israel
,
Benjamin Brenner
1   Department of Hematology and Bone Marrow Transplantation, Rambam Health Care Campus, Haifa, Israel
2   Bruce Rappaport Faculty of Medicine, Technion—Israel Institute of Technology, Haifa, Israel
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Publikationsdatum:
15. Oktober 2013 (online)

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Abstract

Gaucher disease (GD) is a lysosomal disorder caused by inherited deficiency of glucocerebrosidase (GCase), resulting in the accumulation of glucocerebroside in macrophages, termed “Gaucher cells,” leading to multiorgan involvement, with hepatosplenomegaly, cytopenias, pulmonary hypertension, and skeletal complications. Various mutations, encoding the GCase gene, cause acute or chronic neuronopathic forms of the disease. The hallmark of GD is the macrophages infiltrating organs, bone marrow, and nervous system compromising their function by inflammation, infarcts, fibrosis, and neuronal damage. Coagulation abnormalities are frequent among GD patients due to reduced production and chronic consumption of coagulation factors. Splenic and bone infarcts often occur in GD patients, but hypercoagulability is not frequent. Detection of thrombophilic risk factors in GD patients may predict a more severe course of the disease. Clinical and genetic studies revealed an association between reduced GCase activity in carriers of GD mutations and GD patients and occurrence of Parkinson disease (PD) and showed that GCase gene mutations are risk factors for PD development. The mechanisms underlying the association of PD and GD are not yet elucidated and should be further explored, particularly the potential involvement of inflammation and coagulation in the neurovascular unit.

Keywords

hypercoagulability - parkinsonism - Gaucher disease - glucocerebrosidase