Gaucher disease is a rare genetic disease that is 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 bones or spinal cord. 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 taking of medications; Gaucher disease type 2 - acute neuropathic form: affects babies, and is usually diagnosed until 5 months of age, being a serious disease, which can lead to death in up to 2 years; Gaucher disease type 3 - subacute neuropathic form: affects children and adolescents, and its diagnosis is usually made at 6 or 7 years old. It is not as severe as form 2, but it can lead to death at 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 soon as possible, in order to initiate appropriate treatment and reduce complications that can be life-threatening.
Main symptoms
Symptoms of Gaucher disease may vary according to the type of disease and the locations affected, however the most common symptoms include:
- Excessive tiredness; Delayed growth; Nasal bleeding; Pain in the bones; 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 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
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 puncture.
How the treatment is done
Gaucher disease has no cure, however, there are some forms of treatment that can relieve symptoms and allow for a better quality of life. In most cases, the treatment is done with the use of medication for the rest of your life, with the most used remedies being Miglustat or Eliglustat, remedies 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.
