Recognizing gaucher disease

Gaucher disease is a chronic, progressive, inherited genetic disorder. People with Gaucher disease lack sufficient levels of a particular enzyme. As a result of this enzyme deficiency, a fatty material, or lipid, accumulates in the body. Lipid accumulation in organs and bones can cause mild to severe symptoms that can appear at any time throughout life, from infancy to adulthood.

The signs and symptoms of Gaucher disease are a result of the progressive accumulation of Gaucher cells in the body. Gaucher cells typically accumulate in the spleen, liver, and bone marrow. However, they may also collect in other tissues, including the lymphatic system, lungs, skin, eyes, kidney, heart, and in rare instances, the nervous system.

Symptoms can appear at any age, but usually are first noticed in childhood or adolescence. They include:
-easy bleeding and bruising
-excessive fatigue
-anemia
-weak bones fracturing too easily
-bone and joint pain
-enlargement of the belly through increase in the volume of spleen and liver.

The type and severity of symptoms can vary widely among individuals. Some individuals do not experience any symptoms until they are elderly, while others may develop life-threatening conditions during childhood. Gaucher disease is progressive and, if left untreated, will usually become worse over time.

Gaucher disease is divided into two major types—neuronopathic and non-neuronopathic disease—based on the particular symptoms of the disease. In non-neuronopathic disease most organs and tissues can be involved, but not the brain. In neuronopathic disease the brain is also involved

Gaucher disease is an inherited, genetic disorder. People inherit two copies of every gene—one from each parent. Every human being carries an estimated 8 to 10 genes in each cell of their body that are mutated, or “changed”. Some gene changes do not have much impact, but other changes may cause disease in the affected individuals. Just like normal genes, mutated genes are passed from one generation to another.


The genes for production of the enzyme glucocerebrosidase are passed from parent to child. In patients with Gaucher disease, two copies of the glucocerebrosidase gene that the individual inherited from his or her parents are both defective; thus, the glucocerebrosidase is unable to function normally.

A person with just one defective gene and one normal gene for glucocerebrosidase is a ‘carrier’ of Gaucher disease. (Glucocerebrosidase is the enzyme that is missing or deficient in Gaucher disease.) Carriers do not develop the disease because one of the two genes is normal, so enough normal enzyme is produced to prevent the fatty substance glucocerebroside from accumulating in cells. Although Gaucher carriers will not have symptoms of the disease themselves, the odds are 50:50 that the “Gaucher gene” will be passed on to each of their children.

Treatments included various pain reduction therapies, blood transfusions, orthopedic surgery for bones and joints, and possible splenectomy (removal of spleen). There are two major approaches to disease-specific therapies for Type 1 Gaucher disease: enzyme replacement therapy and substrate reduction therapy. However, You should discuss any specific treatment option with your physician.