By Dr Ananya Mandal, MD
Gaucher’s disease is a rare genetic disorder caused by a lack of the enzyme glucocerebrosidase. This enzyme is usually stored in the lysosomes of macrophages, which require the enzyme to recycle red blood cells.
In Gaucher's disease, this enzyme deficiency causes the fatty substance glucocerebroside to build up inside the macrophages, which then become ineffective and misshapen. At this stage, the cells are referred to as Gaucher cells. These cells mainly deposit in the liver, spleen and bone marrow, although the lungs, nervous system and heart can also be affected.
Types of Gacuher’s disease
There are three main types of Gaucher’s disease. These include:
This is the most common form of Gaucher’s disease and it can occur at any age. The condition leads to lung and kidney dysfunction, enlargement of the liver and spleen, bone pain and broken or fractured bones. The brain is not affected.
This form of Gaucher’s disease severely affects the brain and is common among infants and babies. Most children with this form of Gaucher’s disease do not live past three years of age.
Here, the liver and spleen are enlarged and the brain is also slowly involved. This form of the condition often affects people in their childhood or adolescence.
Although there is no permanent cure for Gaucher’s disease, the condition can be treated with enzyme replacement therapy, which can help improve symptoms and prevent irreversible damage. The deficient enzyme is replaced with an artificial enzyme which is administered intravenously every two weeks.
A medication called miglustat is an oral form of medication that can interrupt the build up of glucocerebroside in cells. Other drugs are available to help restore any bone damage caused by the condition.
In cases of more severe Gaucher’s disease that are not responsive to these treatments more invasive approaches such as bone marrow transplantation or spleen removal may be advised.
Reviewed by Sally Robertson, BSc
Last Updated: Jun 24, 2014