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. There is no specific treatment for Gaucher syndrome, although experimental treatments are being tested. Call your health care provider if you have, or there is a history of Gaucher disease or a history of it in your family, and you are considering having children. If you have or your child has the disease and begin to show symptoms or complications, call your health care provider. Prevention Genetic counseling is recommended for prospective parents with a family history of Gaucher syndrome.