Gaucher's disease is caused by a deficiency of the enzyme Glucocerebrocidase.
it is the enzyme that splits glucose from glucosylceramide.
Clinical history of bone pain and hepatosplenomegaly and crumpled tissue paper appearance in biopsy is highly suggestive of Gaucher's disease.
Because of the deficiency of glucocerebrosidase, there will be an accumulation of glucosylceramide in the reticuloendothelial system.
It is the most common lysosomal storage disorder which is autosomal recessive in inheritance.
Histopathology:
The cerebroside laden cells are large and have eccentric nuclei; the cytoplasm appears like crumpled silk or tissue paper. (Gaucher cells)
With electron microscopy, the fibrillary cytoplasm can be resolved as elongated, distended lysosomes containing the stored lipid in the stacks of bilayers.
IN PATIENTS WITH CEREBRAL INVOLVEMENT GAUCHER CELLS ARE SEEN IN VIRCHOW-ROBIN SPACES.
CLINICAL FEATURES:
Spleen is markedly enlarged with signs of hypersplenism.
The liver enlarged and the marrow cavity widened due to deposits of Gaucher's cells.
Expansion of bone, especially at the lower end of femur and humerus.
Pancytopenia & thrombocytopenia secondary to hypersplenism.
Pathologic fracture &bone pain occurs if there has been extensive expansion of marrow space.
CHITOTRIOSIDASE, an enzyme synthesized by macrophages, is markedly elevated in patients with Gaucher's disease. It is the specific biomarker for Gaucher's disease.
there are three clinical variants of Gaucher's disease.
Treatment:
1. Enzyme replacement therapy(both natural and recombinant )
2.OGT-918 slows the rate of accumulation of glycolipids and is under trial.
it is the enzyme that splits glucose from glucosylceramide.
Clinical history of bone pain and hepatosplenomegaly and crumpled tissue paper appearance in biopsy is highly suggestive of Gaucher's disease.
Because of the deficiency of glucocerebrosidase, there will be an accumulation of glucosylceramide in the reticuloendothelial system.
It is the most common lysosomal storage disorder which is autosomal recessive in inheritance.
Histopathology:
The cerebroside laden cells are large and have eccentric nuclei; the cytoplasm appears like crumpled silk or tissue paper. (Gaucher cells)
With electron microscopy, the fibrillary cytoplasm can be resolved as elongated, distended lysosomes containing the stored lipid in the stacks of bilayers.
IN PATIENTS WITH CEREBRAL INVOLVEMENT GAUCHER CELLS ARE SEEN IN VIRCHOW-ROBIN SPACES.
CLINICAL FEATURES:Spleen is markedly enlarged with signs of hypersplenism.
The liver enlarged and the marrow cavity widened due to deposits of Gaucher's cells.
Expansion of bone, especially at the lower end of femur and humerus.
Pancytopenia & thrombocytopenia secondary to hypersplenism.
Pathologic fracture &bone pain occurs if there has been extensive expansion of marrow space.
CHITOTRIOSIDASE, an enzyme synthesized by macrophages, is markedly elevated in patients with Gaucher's disease. It is the specific biomarker for Gaucher's disease.
there are three clinical variants of Gaucher's disease.
Treatment:
1. Enzyme replacement therapy(both natural and recombinant )
2.OGT-918 slows the rate of accumulation of glycolipids and is under trial.
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