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Gaucher disease is a rare genetic disease that is characterized by an enzyme deficiency that causes the fatty substance of the cells to be deposited in various organs of the body, such as the liver, spleen or lung, as well as in bones or bone marrow.
Thus, depending on the affected site and other characteristics, the disease can be divided into 3 types:
- Gaucher disease type 1 - non-neuropathic: it is the most common form and affects both adults and children, with slow progression and possible normal life with correct medication;
- Type 2 Gaucher disease - acute neuropathic form: affects babies, and is usually diagnosed up to 5 months of age, being a serious disease, which can lead to death in up to 2 years;
- Type 3 Gaucher disease - subacute neuropathic form: affects children and adolescents, and diagnosis is usually made at 6 or 7 years of age. It is not as serious as form 2, but it can lead to death around 20 or 30 years of age, due to neurological and pulmonary complications.
Due to the severity of some forms of the disease, its diagnosis should be made as early as possible, in order to initiate appropriate treatment and reduce life-threatening complications.
Symptoms of Gaucher disease can vary depending on the type of disease and the affected sites, however the most common symptoms include:
- Excessive fatigue;
- Growth delay;
- Bone pain;
- Spontaneous fractures;
- Enlarged liver and spleen;
- Varicose veins in the esophagus;
- Abdominal pain.
There may also be bone diseases such as osteoporosis or osteonecrosis. And most of the time, these symptoms don't 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
How the diagnosis is made
The diagnosis of Gaucher disease is based on the results of tests such as biopsy, spleen puncture, blood test or spinal tap.
How the treatment is done
Gaucher disease has no cure, however, there are some forms of treatment that can relieve symptoms and allow a better quality of life. In most cases, the treatment is done with the use of medication for the rest of the life, and the most used drugs are Miglustat or Eliglustat, drugs that prevent the formation of fatty substances that accumulate in the organs.
In the most severe cases, the doctor may also recommend having a bone marrow transplant or having surgery to remove the spleen.