The condition may be present as an infantile, juvenile or chronic form. The chronic form is most common, and a person is often not diagnosed until his or her 20s. The juvenile form of Gaucher disease occurs in all nationalities and is also inherited as an autosomal recessive disorder. With all forms, abnormal deposits of glucocerebroside occur in the liver, spleen, and bone marrow. Damage to the bone marrow may cause anemia and associated problems.
Death can occur from bone marrow failure.
The juvenile form begins later in childhood, often the teens, and causes spleen, bone marrow, and CNS damage. Genetic counseling is recommended for prospective parents with a family history of Gaucher syndrome. People can also be carriers without having a family history of the disease. Testing can determine if parents carry the gene that could pass on Gaucher syndrome. A prenatal test can also tell if the fetus has Gaucher syndrome.