There are three types of Gaucher disease.
Type 1- usually starts to cause problems in childhood and is characterised by an enlarged liver and spleen and low blood cell levels. Anaemia, tiredness, easy bruising and a tendency to bleed are common or finding an enlarged spleen incidentally (as a result of another investigation). The bone itself may become thin and more likely to break. Breathing can also be affected in older patients. There can be growths of tissue in the conjunctiva of the eye and increased pigmentation of the skin. There is no effect on the nervous system in type I disease.
Type 2- children usually appear normal at birth but symptoms develop within a few months and rapidly progress, with deterioration in the organs, enlargement of the liver and spleen and damage to the nervous system causing abnormal eye movements, unsteadiness, swallowing problems and seizures. Growth usually halts and the child may regress in learned skills. Sadly, most children die by the age of two years.
Type 3- in this type, there is also damage to the nervous system but it is later in onset and progresses more slowly.