The treatment for Gaucher disease typically includes enzyme replacement therapy and sometimes a bone marrow transplant. There is no cure for this illness, since it is a genetic disorder that affects the body's ability to manufacture the enzyme glucocerebrosidase. Certain forms usually lead to death during childhood, typically before the age of five.
Often, the first signs of the illness are liver failure or bone fractures. The lack of glucocerebrosidase leads to the liver being unable to fully and adequately process certain waste materials. These materials build up in the body and cause organ failure, bone weakness, and sometimes cognitive impairment. It may be harder to diagnose in very young infants since it is such a rare disorder.
There are three forms of Gaucher disease. The first, and most common, affects people of all ages and is usually fully treatable with long-term supplementation. The second type is usually fatal during childhood, and the third type is controllable for some patients, although many die sometime during early adulthood. Those with the first type often have a normal life expectancy since the treatment for Gaucher disease can be very effective in these cases.
Treatment for Gaucher disease must be started as soon as the disease is detected. Most patients receive ongoing enzyme supplements to compensate for the lack of enzymes their own bodies produce. This usually alleviates symptoms and allows patients to live well into adulthood with type 1 gaucher disease. With other types, which are more severe and usually occur during infanthood or childhood, treatment may prolong life for several years.
There are no real preventative measures which can be taken in the treatment of Gaucher disease. It is a genetic illness which must be passed on by both parents in order for offspring to inherit the disorder. Genetic counseling can be performed prior to a couple becoming pregnant to determine if one or both of them carry the gene. Parents can be carriers of the offending gene even they do not have the condition themselves.
If treatment of Gaucher disease is not begun immediately, serious health complications can occur. These may include seizures, anemia, cognitive impairment, bone problems, and organ failure. Eventual death can also occur, especially in young children. Bone marrow transplants may be needed in some individuals in order to help repair bones and other damaged body systems, but this is typically reserved for very severe cases.
Additional therapies may be needed when complications do occur. For instance, broken bones will need to mended, and anti-seizure medications may also be given until the condition is under control. The exact medicines and therapies require will depend on each individual patient, how progressed the illness is, and the age of the patient.