Gaucher disease

Gaucher disease is a rare, genetic metabolic disorder that affects both sexes. It is caused by a weakened function of one of the naturally produced enzymes in the human body – glucocerebrosidase. Glucocerebroside accumulates in the bone marrow, liver, and spleen, leading to hepatosplenomegaly and bone deformities, among other conditions.

Symptoms of Gaucher disease

Gaucher disease can affect numerous organs in the human body, and symptoms can vary significantly between patients. Some patients with a mild form may not experience symptoms until old age. For others, symptoms can become life-threatening even in childhood. The most common sites for the accumulation of abnormal Gaucher cells are the liver, spleen, and bone marrow.

Typical symptoms of Gaucher disease

• Thrombocytopenia / PLT <100×109/l
• Chronic anemia of unknown cause
• Enlargement of the spleen or liver on imaging studies

Other symptoms:

• Bone and joint pain
• Feeling tired
• Tendency to bleed or bruise
• Reduced immunity, recurrent infections
• Tendency to fracture bones

Gaucher disease can also have adverse effects on the lungs and brain.

Diagnosis and treatment

Gaucher disease can be accurately diagnosed with a simple blood test, the "dry spot test ," which measures the activity of the enzyme glucocerebrosidase. If the activity is 30% or less, Gaucher disease is definitively confirmed.

Early diagnosis enables effective treatment. The primary treatment for Gaucher disease is enzyme replacement therapy (ERT ), which involves administering synthetic glucocerebrosidase to patients, leading to the proper breakdown of glucosylceramide.

The basic test performed to accurately diagnose Gaucher disease is the Dried Blood , which you can perform free of charge at CM Luxmed.