Gaucher disease: symptoms
Last reviewed: 23.04.2024
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Chronic form in adults (type 1)
This is the most common type of illness. 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 first established in old age.
Symptoms of Gaucher's disease type 1 are diverse and manifested by unexplained hepatosplenomegaly (especially in children), spontaneous bone fractures or pain in the bones and fever. There are also hemorrhagic diathesis and nonspecific anemia.
Symptoms of GOSCH also include pigmentation, which can be diffuse or focal; while the skin has a rusty-brown color. The lower extremities can be symmetrical lead-gray pigmentation due to the deposition of melanin. The conjunctiva reveals yellow pingveculae.
The spleen is huge, the liver is moderately enlarged, smooth and dense. Surface lymph nodes are usually not affected.
Liver involvement 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.
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. 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 is established based on the determination of beta-glucocerebrosidase activity in a mixture of mononuclear cells obtained from venous blood.
Changes in biochemical parameters. The activity of alkaline phosphatase is often increased. Sometimes the activity of transaminases increases. The level of serum cholesterol is 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 they are 2 years old. At birth, the child looks healthy. Then develop brain damage, progressive cachexia and impaired mental development. The sizes of a liver and a spleen increase, the superficial lymph nodes can also be palpated.
In autopsy, Gaucher cells are identified in the reticuloendothelial system. However, they are not found in the brain, and the pathogenesis of its lesion remains unclear.
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