Gaucher disease (GD) is one of the most frequent lysosomal disorders with a prevalence of 1:50,000 in the general population,
Gaucher disease is an autosomal recessively inherited disease found in all ethnicities, but with increased frequency among Ashkenazi Jews (1 in 850).
This autosomal recessive lysosomal storage disorder is caused by mutations in GBA1, resulting in a deficiency of the enzyme glucocerebrosidase.
The result is widespread accumulation of macrophages engorged with predominantly lysosomal glucocerebroside.
Gaucher disease was first recognized by Philippe Gaucher who described it in his medical school thesis in 1882.
Type 1 GD (GD1) is defined as the non-neuronopathic subclass and can present at any age. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells , easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.
Acute neuronopathic GD (GD2), the most severe and progressive form, manifests either prenatally or in the first months of life, characterized by rapid neurological decline and death within the first years of life. Signs and symptoms include seizures, eye movement problems, and brain damage. It often progresses to life-threatening complications such as respiratory distress or aspiration pneumonia.
Chronic neuronopathic GD (GD3) often has an onset in early childhood, with a highly variable spectrum of associated neurological and non-neurological manifestations.
There is accumulation of glucocerebroside in the reticuloendothelial cells.
The red pulp of the spleen, sinusoids and medullary portions of lymph nodes, sinusoids of the liver and bone marrow are particularly involved.
The Gaucher cell is a large, sometimes multinucleate cell, and has a cytoplasm, which stains bluish-gray with Giemsa.
The cytoplasm has the appearance of "crumpled tissue paper", particularly noticeable with PAS staining.
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Like all storage cells and histiocytes with activated lysosomal systems there is strong acid-phosphatase activity.
The cytoplasm also shows autoflourescence in unstained paraffin sections and there is variable birefringence in unstained frozen sections.
The cell morphology contrasts with the storage cells of Niemann-Pick disease which typically shows fine cytoplasmic vacuolation.
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