Gaucher’s Disease
GAUCHER’S DISEASE
- It is an autosomal recessive trait.
- It is the common lysosomal storage disorder.
- It is 3 types-
- Type I Gaucher’s disease (most common)
- Type II Gaucher’s disease
- Type III Gaucher’s disease
Biochemical Defect-
- Deficiency of lysosomal hydrolase, acid β- glucosidase (β- glucocerebrosidase)
Clinical features-
- Pancytopenia, bleeding manifestations
- fatigue
- Bleeding manifestations
- Hepatosplenomegaly
- Pathological fracture of long bones and bone pain
- Rapid neurodegenerative course (Type II)
Diagnosis-
- Erlenmeyer Flask Deformity
- Bone marrow examination- The pathologic hallmark of Gaucher disease is the Gaucher cell particularly in the bone marrow.
Treatment-
- Enzyme Replacement Therapy (ERT)
- Human Acid Beta Glucosidase (Imiglucerase)
- Oral substrate reduction agents- Miglustat
- Bone marrow transplantation
Exam Question
- It is an autosomal recessive trait.
- It is the common lysosomal storage disorder.
- Type I Gaucher’s disease (most common)
- Deficiency of lysosomal hydrolase, acid β- glucosidase (β- glucocerebrosidase)
- Bone marrow examination- The pathologic hallmark of Gaucher disease is the Gaucher cell particularly in the bone marrow.
- Treatment- Enzyme Replacement Therapy (ERT)
Don’t Forget to Solve all the previous Year Question asked on Gaucher’s Disease
