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Gaucher's disease - Diagnosis
Last reviewed: 04.07.2025
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Liver damage in Gaucher disease is often accompanied by fibrosis and abnormal liver function tests. Alkaline phosphatase activity is often elevated, and transaminase activity sometimes increases. Cirrhosis and ascites may develop. Portal hypertension is often complicated by bleeding from esophageal varices.
Diagnosis of Gaucher disease involves the following diagnostic procedures:
X-ray of bones. The long tubular bones, especially the distal femur, are so widened that the normally present narrowing in the supracondylar region disappears. The picture resembles an Erlenmeyer flask.
Gaucher cells, which have diagnostic value, can be seen in bone marrow smears.
Aspiration biopsy of the liver should be performed if the results of sternal puncture are negative. Liver damage is diffuse.
Peripheral blood changes in Gaucher disease. With diffuse bone marrow damage, a leuko-erythroblastic picture is observed. In contrast, leukopenia and thrombocytopenia with an increase in bleeding time may be accompanied by only moderate hypochromic microcytic anemia.
The diagnosis of Gaucher disease is established based on the determination of beta-glucocerebrosidase activity in a mixture of mononuclear cells obtained from venous blood.
Changes in biochemical parameters in Gaucher disease. Alkaline phosphatase activity is often elevated. Transaminase activity sometimes increases [231. Serum cholesterol level is normal.
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