Gaucher disease is the most common lysosomal storage disorder. Gaucher disease is a disorder of lipid metabolism caused by mutations in the gene encoding glucocerebrosidase.→ Deficiency of glucocerebrosidase→ Accumulation of glucocerebroside mainly in the cells of the mononuclear phagocyte system &sometimes in the central nervous system.
Glucocerebrosides are continually formed from the catabolism of glycolipids derived mainly from the cell membranes of old red blood cells & white blood cells.
Gaucher disease morphologically shows Gaucher cells (distended phagocytic cells with a distinctive wrinkled tissue paper cytoplasmic appearance). Gaucher disease has 3 clinical subtypes: Type I (chronic nonneuronopathic), Type II (acute neuronopathic),& Type III (Juvenile).
Chronic non-neuronopathic form (Adult Gaucher disease)
This accounts for 99% of the cases, is found mainly in European Jews. Chronic non-neuronopathic form does not involve the brain. Chronic non-neuronopathic form shows accumulation of gluccocerebrosides only in the cells of the mononuclear phagocytic system throughout the body.Hence, it shows Gaucher cells in the spleen, liver, lymph nodes, & bone marrow.
Gaucher disease clinically manifests by
- · Splenomegaly→Hypersplenism→Pancytopenia.
- · Hepatomegaly
- · Generalized lymphadenopathy
- · Pathologic fractures & bone pain due to erosion of the bone.
- · First appearance of sings & symptoms in adult life.
- · Progressive disease which is compatible with long life.