Gaucher Disease

Gaucher Disease – General Information

Gaucher Disease is a disorder which is characterized by a high level of fatty substances in the spleen, the bone marrow, the lungs or, in some rare cases, in the brain. The high quantity of such substances interferes with the normal processes which take place in these organs and it can result in bone pain and organ enlargement. In most of the cases, this disease is the result not only of a high level of fatty substances but of an enzyme deficiency, which is also a consequence of the excessive quantity of fatty substances. This disorder is more likely to affect people in the Central and Eastern Europe; it affects both men and women, no matter the race and it can develop at any moment in one’s life. Gaucher Disease was first described in the 1880s by a French doctor and that is why it is called like this. The disease appears when a person experiences an enzyme deficit; in a normal process, the enzymes decompose the fatty substances but, when they can not longer do this, the fatty products build up in certain organs or even in the bone marrow and cause serious problems.Guacher Disease can be an inherited disorder as well, but both of the parents have to present this genetic mutation; however, if both of the parents present this genetic mutation, the child has only 25 percent chance to suffer from this disease, 25 percent chance to not suffer from this disease and 50 percent chance to be just a carrier.

Gaucher Disease – Symptoms

Gaucher Disease can be characterized by a large number of signs and symptoms, which vary a lot from a patient to another. However, the first symptom which is reported in most of the cases is a bone fracture or bone pain. Other symptoms which can appear include: skeletal abnormalities, splenomegaly (enlarged spleen), hepatomegaly (enlarged liver), excessive fatigue, anemia, a high risk of bruising which can result in thrombocytopenia, the appearance of some spots in the eyes, dementia, mental retardation, abnormal eye movements, coloring of the skin and  damaged function of the kidneys and the lungs.
 There are three major forms of this disease; the classification is made considering if the central nervous system and the patient’s brain are affected and the patient’s age when the disease is diagnosed.  The first type does not include damage of the brain and it can appear at any age; however, it is more likely to affect adults older than 20 years. This is the most common form of the disorder. The second type of the disorder is the most uncommon one, it usually affects young children and it is characterized by severe symptoms, such as spleen and liver enlargement. In this case, the young babies who are affected experience severe and rapidly extensive brain damage. The third type of Gaucher Disease is also rare, but it affects not only young children but also teenagers. It develops more slowly than the second form and, even though the brain is damaged the signs and symptoms are not that severe.

Gaucher Disease – Treatment

If you notice the presence of any of the signs and symptoms described above you should visit a doctor as soon as possible in order to obtain a sure diagnosis and to choose the best way of treating the disease. If you are aware of a genetic history of Gaucher Disease in your family, you should inform the doctor about it and you should ask for a blood sample in order to determine if you are a carrier or not. The blood test also gives information about the levels of the enzymes in your body; if you are just a carrier of the disease, the level of the enzymes will be an intermediate one, whereas if you suffer from this disease, the level of the enzymes in the body will be quite low. If you are diagnosed with Gaucher Disease, your doctor will also recommend you some periodical tests to track the progression of the disorder. These tests consist of: an x-ray absorptiometry, which is used in order to determine the density of the bones and magnetic resonance scans, which give information about the liver and the spleen and help the doctor to decide whether you present an enlarged spleen or liver. In the case of pregnant women who suffer from this disease or just carry the gene, the doctor will probably recommend some tests to determine the risk for the child to develop Gaucher Disease as well.

There are various ways of treating this disorder. The most common way of treatment is enzyme replacement therapy, which consists of administrating the patient some synthetic enzymes in order to supplement the deficit of natural ones. The replacement is done through a vein and at intervals of about two or three weeks. This way of treatment is more effectively in the case of the patients who suffer from the first type of Gaucher Disease and it can reduce the liver and spleen enlargement almost completely. In the case of young children, this type of therapy moderates the skeletal abnormalities. In some rare cases, those who are administrated this type of therapy can experience some adverse reactions such as nausea, abdominal pain or diarrhea. Another way of treating this disorder is a bone marrow transplant, a surgical intervention which consists of removing the damaged cells; however, the procedure is quite risky and it is performed only in extreme cases. Another common way of treating this disorder is drug administration, even thought the effectiveness of the oral drugs is not yet certain.    

In the case of those who suffer from the second type of Gaucher Disease, the doctors have not yet established an effective treatment, as this form of the disorder involves severe complications, such as abnormal gait, seizures and swallowing problems. If these problems are not treated they evolve quickly and they can even result in sudden death, especially in the case of young children. There are, however, other complications which can appear: calcification of the valves of the heart, extreme bleeding, excessive swelling, fractures or even some type of cancer.