Gaucher disease is a rare genetic disease characterized by an enzymatic deficiency that causes the fatty substance in cells to become deposited in various organs of the body, such as the liver, spleen, or lung, as well as bone or bone marrow bone.
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 the correct medication taking;
- Gaucher disease type 2 - acute neuropathic form: affects babies, and is usually diagnosed up to 5 months of age, being a serious disease, which can lead to death within 2 years;
- Gaucher disease type 3 - subacute neuropathic form: it affects children and adolescents, and its diagnosis is usually made at 6 or 7 years. It is not as severe as Form 2 but can lead to death by the age of 20 or 30 years due to neurological and pulmonary complications.
Due to the severity of some forms of the disease, its diagnosis should be made as soon as possible, in order to initiate appropriate treatment and reduce life-threatening complications.
Main symptoms
Symptoms of Gaucher disease may vary depending on the type of disease and the affected sites, however the most common symptoms include:
- Excessive tiredness;
- Delayed growth;
- Nose bleed;
- Pain in the bones;
- Spontaneous fractures;
- Liver and spleen enlargement;
- 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 do not arise at the same time.
When the disease also affects the brain, other signs such as abnormal movements of the eyes, muscle stiffness, difficulty swallowing or
How is the diagnosis made?
The diagnosis of Gaucher disease is based on the results of exams such as biopsy, puncture of the spleen, blood test or spinal cord puncture.
How is the treatment 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, being the most used medicines are the Miglustat or the Eliglustat, medicines that prevent the formation of the fatty substances that accumulate in the organs.
In more severe cases, the doctor may also recommend doing a bone marrow transplant or having surgery to remove the spleen.
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