Gaucher disease

Gaucher disease is a rare metabolic disease with a genetic basis that occurs in both sexes. Its cause is the impaired function of one of the naturally produced enzymes in the human body - glucocerebrosidase. Glucocerebrosidase accumulates in the bone marrow, liver, spleen leading to hepatosplenomegaly and bone deformities, among other things.

Gaucher disease symptoms

Gaucher's disease can occupy numerous organs of the human body, and symptoms can vary widely from patient to patient. Some patients with the mild form may not experience symptoms until old age. In others, symptoms can be life-threatening as early as childhood. The most common sites for the accumulation of abnormal Gaucher cells are the liver, spleen and bone marrow.

Typical symptoms in Gaucher disease

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

Other symptoms:

• Bone and joint pain
• Feeling of fatigue
• Prone to bleeding or bruising
• Lowered immunity, recurrent infections
• Bone fracture tendency

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

Diagnosis and treatment

An accurate diagnosis of Gaucher disease can be made with a simple blood test, the so-called "dry drop test," which measures the activity of the enzyme glucocerebrosidase. If it is 30% or less, this indicates definitive confirmation of Gaucher disease.

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

The primary test performed to accurately diagnose Gaucher's disease is the Dry Blood Drop Test, which you will perform free of charge at CM Luxmed.