Hypercoagulability, parkinsonism, and Gaucher disease.

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