What is Gaucher's Disease?

Description of the disease

Gaucher's disease, or Gaucher's disease, is a rare genetic disorder that leads to a disruption of lipid metabolism in the body. This inherited disease is caused by a mutation of the gene responsible for the formation of the enzyme glucocerebrosidase. As a result of this mutation, fats accumulate in the body, leading to the dysfunction of various organs and systems.

Classification

• Type 1: adult-onset disease
• Type 2: pediatric form of the disease
• Type 3: juvenile form
• Type 4: acute neurologic form

Symptoms

• Bone pain
• Enlarged spleen and liver
• Neurological problems
• Yellow spots in the eyes

Causes

Gaucher's disease is caused by a genetic defect in the gene responsible for the formation of the enzyme glucocerebrosidase. Mutation of this gene leads to a disruption of lipid metabolism in the body.

Diagnosis

Diagnosis is based on clinical manifestations, biochemical, and genetic studies.

Treatment

Treatment aims to reduce lipid levels in the body, alleviate symptoms, and support organ and system functions.

Prevention

Since Gaucher's disease is a genetic disorder, the only prevention is genetic counseling when planning pregnancy.

Physician

Treatment of Gaucher's disease is carried out by a geneticist or a specialist in rare diseases.