Gaucher disease is characterized by the accumulation of fat particles in excess in the vital organs like liver, lungs, spleen and bone marrows. This collection of harmful fatty molecules can cause intense bone pain and organ swelling. This condition occurs due to the shortage of enzyme glucocerebrosidase and hence this disease is also called as glucocerebrosidase deficiency. Gaucher disease can develop in all age groups and often seen in Jewish people of Central Europe and Eastern European countries.
Symptoms :
Symptoms of Gaucher disease vary as per the age, health condition and type of the disease. It is possible that even identical twins can have different range of symptoms.
There are 3 types of Gaucher’s disease as given below :
Type 1 :
Type 1 is the mildest form of this disease and is the most common variety. This type largely occurs in adults. Some of the signs of Type 1 disease are thinning of bones, intense pain on the bones, liver enlargement (hepatomegaly) or enlargement of spleen, reduced production of red blood cells (anemic condition), extreme tiredness, reduced blood platelets (causing bruises often), delay in puberty and yellow patches on the eyes. Often, this type does not affect the brain.
Type 2 :