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Gaucher's disease - Symptoms
Last reviewed: 06.07.2025
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Chronic form in adults (type 1)
This is the most common type of the disease. In most cases, the disease is detected before the age of 30 and has a gradual onset. The course is chronic. The diagnosis can be made for the first time in old age.
The symptoms of Gaucher disease type 1 are varied and include unexplained hepatosplenomegaly (especially in children), spontaneous bone fractures or bone pain, and fever. Hemorrhagic diathesis and nonspecific anemia may also occur.
Symptoms of Gaucher disease also include pigmentation, which may be diffuse or focal; the skin is reddish-brown. Symmetrical lead-gray pigmentation due to melanin deposition may be present on the lower extremities. Yellow pingueculae are found on the conjunctiva.
The spleen is enormous, the liver is moderately enlarged, smooth and dense. The superficial lymph nodes are usually not affected.
Liver damage 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.
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 diffuse bone marrow lesions, a leuko-erythroblastic picture is observed. On the contrary, leukopenia and thrombocytopenia with an increase in bleeding time may be accompanied by only moderate hypochromic microcytic anemia.
The diagnosis is established based on the determination of beta-glucocerebrosidase activity in a mixture of mononuclear cells obtained from venous blood.
Changes in biochemical parameters. Alkaline phosphatase activity is often elevated. Transaminase activity sometimes increases. Serum cholesterol levels are normal.
Acute form in infants (type 2)
The acute form of Gaucher disease manifests itself in the first 6 months of life. Children usually die before reaching 2 years of age. At birth, the child appears healthy. Then brain damage, progressive cachexia and mental development disorders develop. The liver and spleen increase in size, and superficial lymph nodes may also be palpated.
Autopsy reveals Gaucher cells in the reticuloendothelial system. However, they are not found in the brain, and the pathogenesis of its damage remains unclear.
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