Gaucher's Disease
Cluster of autosomal recessive disorders
Mutations in gene encoding protein glucocerebrosidase
Most common Lysosomal storage disorder
Glucocerebrosidase - enzyme that cleaves glucose residue from ceramide. As a result it accumulates in phagocytes and sometimes in CNS
Glucocrebrosidase continuously formed from catabolism of glycoproteins from mature cells of senescent leukocytes and erythrocytes
3 types of Gaucher Disease
Type 1: storage of glucocerebrosidase linked to mononuclear phagocytes, Brain not involved, splenic and skeletal involvement, reduced glucocerebrosidase activity
Type 2: no activity of glucocerebrosidase, hepatomegaly, CNS involved
Type 3: Combination of Type 1 and Type 2, in infants
Gaucher cells: phagocyte filled with glucocerebrosidase found in liver, spleen, bone marrow, lymph nodes, tonsillar thymus, peyes patches.
Cells are PAS positive
Symptoms:
Enlarged Spleen
Lymphadenopathy
Accumulation of Gaucher Cells in bone marrow
Gaucher cells in Virchow-Robbins spaces
Arterioles surounded by swollen adventitial cells
Pancytopenia and thrombus

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