Gaucher disease is a rare genetic disease characterized by an enzyme deficiency that causes the fatty substance in cells to deposit in various organs of the body, such as the liver, spleen or lung, as well as in the bones or spinal cord .
Therefore, depending on the affected site and other characteristics, the disease can be divided into 3 types:
- Due to the severity of some forms of the disease.
- Diagnosis should be made as soon as possible to initiate appropriate treatment and reduce life-threatening complications.
Symptoms of Gaucher disease may vary depending on the type of disease and affected locations, but the most common symptoms include:
There may also be bone diseases such as osteoporosis or osteonecrosis and most of the time these symptoms do not appear at the same time.
When the disease also affects the brain, other signs may appear, such as abnormal eye movements, muscle stiffness, difficulty swallowing, or
Diagnosis of Gaucher disease is based on test results such as biopsy, spleen puncture, blood tests, or spinal tap.
Gaucher’s disease has no cure, however, there are certain forms of treatment that can relieve symptoms and allow for a better quality of life. In most cases, treatment is done with the use of medications for the rest of your life, the most commonly used remedies. being Miglustat or Eliglustat, remedies that prevent the formation of fats that accumulate in the organs.
In more severe cases, your doctor may also recommend a bone marrow transplant or surgery to remove your spleen.