Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.
- Most frequent of the lysosomal storage diseases
- low levels of glucocerebrosidase in leucocytes
- Commonest in Ashkenazi Jews
- Symptoms can appear at any age.
- Unable to break down glucocerebroside
- Accumulates in the liver, bone marrow and spleen
- Gaucher cells - reticuloendothelial histiocyte full of glucocerebroside
- Type 1: commonest. No CNS/PNS involvement. Childhood hepatosplenomegaly, anaemia, petechiae, lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.
- Types 2 and 3: CNS involved. Seizures, and brain damage. Can start in infancy, Type 3 disease worsens more slowly than type 2.
- Perinatal lethal form: swelling, hydrops fetalis, dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly. Survive for only a few days after birth.
- Cardiovascular type: heart valves calcify. May have bone disease, and mild splenomegaly.
- Hepatosplenomegaly as Gaucher cells build-up
- Petechiae due to Low platelet count due to splenomegaly
- Anaemia: due to Gaucher cells in bone marrow or B12/folate/Fe deficiency
- Fatigue: Anaemia causes fatigue
- Bone pain and bone crisis due to Bone infarction or avascular necrosis (AVN)
- Osteopenia and osteoporosis: loss of calcium
- Brain stem symptoms
- FBC: Anaemia, B12,folate, ferritin
- Abnormal LDL and HDL cholesterol fractions in the plasma.
- Low levels of glucocerebrosidase in leucocytes
- High levels of tartrate-resistant acid phosphatase, hexosaminidase, and a human chitinase, chitotriosidase.
- Polyclonal immunoglobulin response that may progress to monoclonal gammopathy, amyloidosis, or even frank myeloma
- Genetic mutational analysis
- Enzyme replacement: IV administration of glucocerebrosidase.
- Miglustat inhibits glucosylceramide synthase and used in mild/moderate Type 1 disease
- Treat osteoporosis.
- Bone marrow transplantation. High risk.
- Splenectomy can help.