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What is Gaucher disease?

Mar 31, 2017

What is Gaucher disease?

Gaucher disease is a rare genetic condition that occurs in 1 out of 50,000 people. It is, however, found to be more common in Ashkenazi Jewish people where the probability increases up to 1:500. It is an autosomal recessive disorder which means that the patient receives two mutated genes, one from each parent. Mutations in the GBA gene causes deficiency in an enzyme called beta-glucocerebrosidase which is responsible for breaking down fatty substance in the body. A lack of this enzyme causes accumulation of these substances in the organs such as liver and spleen making them larger in size and affecting their function. In some cases, it weakens the bones and makes them brittle besides reducing the blood clotting ability of the body.

Gaucher disease is classified into Type 1, 2 and 3; Type 1 being the most common. It usually shows symptoms such as enlargement of the liver and spleen, low haemoglobin and platelet count, easy bruising and problems with bones and joints. Type 2 and Type 3 are more dangerous as they affect the central nervous system. Patients suffering from these types of Gaucher disease experience frequent seizure, abnormal eye movements and brain damage apart from the symptoms associated with Type 1. Type 2 also includes the most severe form of Gaucher disease known as the prenatal lethal form which causes grave neurological problems and skin abnormalities in infants making their life span as short as only a few days post birth. Another form of Gaucher disease causes the heart valves to harden, adversely affecting the function of the heart. This type of Gaucher disease is called cardiovascular type.

Gaucher disease is treated by enzyme replacement therapy where the body is infused with the deficit enzyme glucocerebrosidase to gain control over the disease. Other methods of treatment include joint replacement surgery, blood transfusions, removal of spleen and medication. Several methods have been identified and are currently being tested which might help to completely eradicate this genetic disorder.

Disclaimer: The information given in this write-up is purely for educating the reader. It is not meant to be a substitute for any advice from a medical expert.

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