Gaucher Disease

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Clinical picture

Traditionally, Gaucher disease is divided in three phenotypic variants. Type 1 Gaucher disease is the most common variant and has a higher prevalence in the Ashkenazi Jewish population. The overall frequency is believed to be around 1:200 000, but exact estimates are not available.

The clinical picture of type 1 Gaucher disease is very heterogeneous: asymptomatic elderly individuals have been identified during family studies, but very severe symptomatology at an early age can occur as well. Usually, splenomegaly is the first symptom, in combination with thrombocytopenia and bleeding tendency. In more advanced disease, the spleen can become grossly enlarged, filling the entire abdominal cavity. Splenic infarcts, symptomatic or asymptomatic, occur. The tissue is very firm and spontaneous rupture of the spleen rarely happens. The enlarged spleen consumes peripheral blood cells and clotting factors, resulting in cytopenia with bleeding tendency. With increasing spleen volume, platelets drop first, followed by erythrocytes and leucocytes. The combination of thrombocytopenia and abnormally low clotting factors can result in severe bleeding. Infiltration of the bone marrow further contributes to the severity of cytopenia. Gradual enlargement of the liver, with cholestatic liver enzymes being elevated, is usually found.

After splenectomy, frequently performed in the past in severe cases, the liver may become as grossly enlarged as the spleen, with end stage fibrosis as one of the most severe complications. Bone disease manifests during variable degrees of visceral involvement. Avascular necrosis of femoral heads can occur as the first manifestation of disease, even in the absence of palpable a spleen and liver. Bone complications include the occurrence of extremely painful bone crises, resembling sickle-cell crises, for which morphinomimetics are indicated. Pathological fractures of the vertebrae and long bones can occur and not uncommonly osteopenia or osteoporosis can be found. The pathophysiology of bone disease is incompletely understood. With advanced storage in the bone marrow, secondary changes in bony architecture occur, leading to cortical thinning and marrow infarcts. Advanced bone disease can lead to severe impairments in mobility and quality of life. More rare manifestations are lung involvement, pulmonary hypertension and renal and cardiac involvement. These manifestations usually occur only in advanced cases.

Type 2 and 3 disease are the less common neuronopathic variants. Type 2 disease is a very severe form, with rapidly fatal neurological symptomatology. Patients usually die before the age of 2 years. Type 3 disease is more variable, with predominance of visceromegaly or neurological symptomatology. Patients usually exhibit characteristic eye-movement abnormalities, with horizontal gaze palsy. Neurological symptoms can be minimal and remain stable for many years, but can also progress to severe epilepsy and retardation.


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