A Look at Gaucher's Disease

Gaucher's disease is a health condition in which fatty material collects in various organs of the body. The extra fat may build up in the liver, lungs, spleen, or even in the brain. As a result, the affected organ is not able to function normally, and may eventually fail completely.

The disease is caused by a lack of glucocerebrosidase, an enzyme that is essential for the proper breakdown of fatty tissues in the body. When this enzyme is not present in normal levels, the excess fat can accumulate in various organs and even collect in bone marrow. Fortunately, this disorder is relatively rare. While an inherited condition, Gaucher's disease normally does not pass on to the next generation unless both parents have the condition. Even then, there is only a one in four chances that the child will have a low level of glucocerebrosidase.

There are several types or levels of Gaucher's disease. With Type I, the individual is likely to be anemic, tire easily, and experience frequent nosebleeds. The bones may be thin, making it easier to sustain fractures. There is also a good chance that the individual will have an enlarged spleen or liver.

Type II Gaucher's disease is characterized by the presence of seizures and an increased chance for cognitive impairment, up to and including bouts of dementia. There is also the possibility of rigidity of the muscles to set in without warning. All the symptoms of Type I may be experienced by people with Type II as well.

With Type III Gaucher's disease, the progression of the condition is slower than with Type II, but evidences many of the same symptoms. In addition, unusual eye movements may take place. Muscle coordination will also deteriorate over time, making it almost impossible for the individual to function.

Fortunately, there are treatments that can help to contain Gaucher's disease. Enzyme replacement therapy can help bolster low glucocerebrosidase levels, allowing the body to properly process excess fat and make it easier for organs to function properly. This approach is particularly helpful with Type I patients, although people suffering with Type III often receive some relief with replacement therapy.

When the bone marrow is affected, marrow transplants can often help to alleviate the more severe cases of Gaucher's disease. When the damaged marrow is replaced with healthy marrow, many of the signs and symptoms of the disease will reverse in a short period of time. However, the degree of risk with this type of treatment is quite high. For the most part, doctors will try enzyme replacement therapy before considering the bone marrow transplant.

Medication can also be used in conjunction with the replacement therapy as well as the marrow transplant. However, it is not recommended with all types of Gaucher's disease. Miglustat has proven to be helpful in some cases, but it does not seem to help patients suffering with Type I and may even inhibit what little ability the body has to produce glucocerebrosidase. Men may experience a decrease in sperm production, while both men and women may also undergo a marked loss of weight. In general, medication is not used if the patient is responding well to a transplant or the replacement therapy.