September 22, 2023


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A Complete Guide to Gaucher Disease

A Complete Guide to Gaucher Disease

Signs and symptoms of Gaucher disease vary widely, with different types.

Gaucher disease is caused by the accumulation of fatty substances in certain organs, especially your spleen and liver. It enlarges these organs and can affect their function. Fatty substances can also accumulate in bone tissue, weakening bones and increasing the risk of fractures. It can interfere with your blood’s ability to clot if the bone marrow is affected.

It is an enzyme that breaks down these fatty substances and does not work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy. An inherited disorder, Gaucher disease is most common in Jews and symptoms can appear at any age.

Gaucher disease symptoms

Signs and symptoms of Gaucher disease vary widely, with different types. Of these Gaucher diseases, type 1 is by far the biggest common. Some siblings, even identical twins, may have varying degrees of severity of the disease. Some people with Gaucher disease develop only mild or no symptoms later. Most people with this disease have varying degrees of the following problems:

  • Abdominal complaints: These symptoms are caused by the liver and especially the spleen becoming dramatically enlarged, causing the abdomen to become painfully distended.
  • Bone abnormalities: Gaucher disease can weaken bones, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, causing parts of the bone to die.
  • Blood disorders: A decrease in healthy red blood cells, called anemia, can cause severe fatigue. The disease also affects the cells responsible for clotting, which can lead to easy bruising and nosebleeds. Patients diagnosed with Krabbe disease are always ordered to stay away from the disease.

In rare cases, the disease affects the brain, which can cause abnormal eye movements, muscle rigidity, difficulty swallowing, and seizures. A rare subtype of Gaucher disease begins in childhood and usually dies by age 2.


Gaucher disease is actually passed on in an inheritance pattern called autosomal recessive. Both parents must be carriers of the Gaucher mutated gene for their child to inherit the condition.


Doctors prescribe this disease based on the overall clinical picture. Initial laboratory tests may include enzyme tests. Consequently, less than 15% of mean normal activity is considered diagnostic.

The diagnosis can also be made by biochemical abnormalities such as elevated alkaline phosphatase, angiotensin-converting enzyme, and immunoglobulin levels, or by cell analysis of macrophages.

Studies have shown that some lysosomal enzymes are elevated, including tartrate-resistant acid phosphatase, hexosaminidase, and a human chitinase, chitotriosidase. This latter enzyme has proven very useful for monitoring Gaucher disease activity in response to treatment. This disease is one of the inherited metabolic disorders known as lipid storage disease in the human body in which harmful amounts of fatty substances accumulate in various cells and tissues of the body. Signs and symptoms vary widely among affected individuals such as skeletal disorders, enlarged spleen and liver, liver defects, anemia, low platelet count, bone problems, and neurological problems.

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