GAUCHER DISEASE

GAUCHER DISEASE
• This disease is a multisystemic lipidosis characterized by hematologic
abnormalities, organomegaly, and skeletal involvement, the latter
usually manifesting as bone pain and pathologic fractures .

• This disease is a multisystemic lipidosis characterized by hematologic

abnormalities, organomegaly, and skeletal involvement, the latter
usually manifesting as bone pain and pathologic fractures . It is one of
the most common lysosomal storage diseases
 Types
There are 3 clinical subtypes delineated by the absence or presence and
progression of neurologic manifestations:

• type 1 or the adult, nonneuronopathic form;

• type 2, the infantile or acute neuronopathic

• type 3, the juvenile or subacute neuronopathic form. All are

autosomalrecessive traits.
 Clinical manifestations
• Thrombocytopenia

• Anemia

• Hepatomegaly with or without elevated liver function test results

• Splenomegaly

• Bone pain.

• Pulmonary involvement

• Growth retardation
 Gaucher disease should be considered in the
differential diagnosis of:
patients with unexplained organomegaly, who bruise easily, have bone
pain, or have a combination of these conditions.

Diagnosis

The pathologic hallmark of Gaucher disease is the Gaucher cell in the

reticuloendothelial system, particularly in the bone marrow. The
presence of this cell in bone marrow and tissue specimens is highly
suggestive of Gaucher disease, although it also may be found in patients
with granulocytic leukemia and myeloma.
 Treatment
Type 1: Enzyme replacement therapy. The efficacy of enzyme
replacement therapy with mannose-terminated recombinant human acid
β- glucosidase has definitively been demonstrated.

Types 2&3: Although enzyme replacement does not alter the neurologic
progression of patients with Gaucher disease types 2 and 3, it has been
used in selected patients as a palliative measure, particularly in type 3
patients with severe visceral involvement.