Gaucher Disease

About Gaucher Disease

“Gaucher disease is an inherited metabolic disorder in which harmful amounts of fatty materials (lipids) accumulate in certain tissues and organs in the body. The spleen, liver and bone marrow are particularly affected as a result of enzyme deficiencies. Gaucher disease is rare, occurring in I in 40,000 live births, and is more common among Jews of Ashkenazi descent. The signs and symptoms of this condition vary widely among affected individuals, and have been divided into 3 main types, which include:

Gaucher disease type 1 is the most common form of the disease accounting for approximately 95 percent of patients in western countries, appearing anytime from childhood to adulthood. Symptoms include spleen and liver enlargement, lung disease, bone abnormalities and fatigue. Brain development is normal.

Gaucher disease type 2 is rare and involves severe neurological (brain stem) abnormalities. It is usually fatal within the first 2 years, and is currently untreatable due to the severe, irreversible brain damage.

Gaucher disease type 3 has the same symptoms as type 1 plus some neurological involvement and tends to worsen more slowly than type 2. Patients typically have a shortened lifespan but may live into their 50’s with treatment.

There are 2 additional types of Gaucher disease. Fetal (perinatal) Gaucher disease is particularly severe, causing life-threatening complications starting before birth or in infancy. Most infants survive only a few days after birth.

Gaucher disease type 3C or the cardiovascular type causes the heart valves to harden or calcify. These patients may also have eye abnormalities, bone disease and mild enlargement of the spleen. “