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Gaucher disease: diagnosis
Medical expert of the article
Last reviewed: 23.04.2024
Lesion of the liver in Gaucher's disease is often accompanied by fibrosis and impaired functional liver samples. The activity of alkaline phosphatase is often increased, sometimes the activity of transaminases increases. Cirrhosis and ascites may develop. Portal hypertension is often complicated by bleeding from varicose-dilated esophagus veins.
Diagnosis of Gaucher disease consists in performing the following diagnostic procedures:
Radiography of bones. Long tubular bones, especially the distal parts of the femur, are widened to such an extent that the normally narrowing in the supracondylar region disappears. The picture at the same time reminds the cone of Erlenmeyer.
In the marrow of the bone marrow you can see Gaucher cells having diagnostic value.
Aspiration liver biopsy should be performed with negative results of sternal puncture. The defeat of the liver is diffuse.
Changes in peripheral blood in Gaucher disease. With a diffuse lesion of the bone marrow, a leuco-erythroblastic pattern is noted. 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 on the basis of the determination of the activity of beta-glucocerebrosidase in a mixture of mononuclear cells obtained from venous blood.
Changes in biochemical parameters in Gauchers disease. The activity of alkaline phosphatase is often increased. Sometimes the activity of transaminases increases [231. The level of serum cholesterol is normal.
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