Incidence of thrombophilia in patients with Gaucher disease
β Scribed by Elstein, D. ;Renbaum, P. ;Levy-Lahad, E. ;Zimran, A.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 71 KB
- Volume
- 95
- Category
- Article
- ISSN
- 0148-7299
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Bleeding manifestations are common in Gaucher disease patients. Although usually attributed to thrombocytopenia, some patients with relatively high platelet counts and normal coagulation tests have hemorrhagic phenomena. To investigate whether perturbed platelet function could explain these bleeding
Massive splenomegaly is a frequent finding in patients with Gaucher disease, the most common of the sphingolipidoses. Even so, the risk for splenic rupture and intracapsular hemorrhage has not been emphasized due to the rarity of this occurrence and the fibrotic, rubbery consistency of splenic tissu
## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2