Gaucher disease is a serious disorder, which can cause fatality to the individual, if it is not detected and sufficiently treated it time. It is an inherited disorder, which is caused by a deficiency of an enzyme known as glucocerebrosidase. A serious deficiency of this essential enzyme can lead to a gross over storage of complex lipids in the blood cells. This causes abnormalities to develop in these cells.

Individuals suffering from the resulting Gaucher disease will experience severe pains, fatigue, anemia, loss of coordination, severe jaundice, and, in some cases, permanent damage to the bones. In some forms of Gaucher disease, neurological disorders may result.

At present, the course of treatment for Gaucher disease proceeds mainly by an expensive, prolonged course of enzyme replacement therapy, which is designed to lighten the work load of blood cells which are being saddled with the task of storing complex lipids (which they are naturally designed to do).

In severe cases, stem cell transplants are mandated to treat extreme outbreaks of Gaucher disease. It should be immediately noted that stem cell transplants are, in this case, a very high risk surgical procedure, which has been known to sometimes result in the unintended death of the individual who is undergoing this very complex, risk laden surgery. It should be further noted that, thus far, no medical studies have yielded sufficient evidence to prove the effectiveness of this surgery.

So far, medical researchers and technicians have discovered and documented three main varieties of this dangerous inherited disorder. These include:

Type I Gaucher. This is the most common variety of Gaucher disease. Symptoms include bone degeneration, anemia, enlargement of the spleen, and thrombosis. Type I is found in both children and adults. Interestingly, this type of Gaucher is most commonly found in the community of Ashkenazi Jews.

Type 2 Gaucher. This species of Gaucher disease normally is present directly at birth. This is the fastest acting, most fatal form of Gaucher. Neurological damage commences in infancy, and sufferers of this type of Gaucher usually face a rapid, premature demise.

Type 3 Gaucher. In this form of Gaucher disease, patients may experience severe liver and spleen damage, as well as neurological disorders. This form of Gaucher is not quite as fast acting as Type 2 Gaucher, and patients may live well into adulthood before symptoms manifest to their full extent.

Depending on what variety of Gaucher disease one may be suffering from, one or more of the following symptoms may furnish tell tale evidence of the presence of this severe disorder. These symptoms may include mild to severe neurological or cognitive impairment, an enlarged liver or spleen, problems with the valves of the heart suddenly enlarging or closing off altogether, manifestations of various types of lung disease, fatigue, and a tendency to severe bone pain and fractures, caused by "softening" of the bones.

Gaucher disease is very serious and its effects, if left untreated, may easily prove fatal. If one suspects the presence of Gaucher disease, do not delay in contacting your medical health care provider.