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Gaucher disease: clinical manifesrtation



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
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.



Gaucher disease: clinical manifesrtation Gaucher disease: clinical manifesrtation Reviewed by gafacom on October 18, 2019 Rating: 5

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