Gaucher Disease: Diagnostic and Treatment


Lysosomes constitute sub-cellular organelles that have hydrolyses, which are specific. The function of the hydrolyses is to permit the degradation and processing of lipids, nucleic acids, proteins and carbohydrates (Wenstrup et al., 2007). Thus, lysosomal diseases are caused by various gene mutations for the hydrases. Gaucher disease is one of the most common Lysosomal Storage Disorders, which affect particular enzymes that are tasked with the breakdown of materials for reuse in the cells (Harrison, 2008). The deficiency of enzymes or ineffective function of the enzymes leads to the materials building up, and thus they become toxic.

Causes of Gaucher Disease

Gaucher disease is a genetic disorder. It is caused by the absence of glucocerebrosidase enzyme, which is normally stored in the lysosome. Harrison states, “Gaucher disease is an autosomal recessive lysosomal storage disorder caused by decreased activity of acid β-glucosidase” (p. 39). The lack of the glucocerebrosidase leads to building up of glucocerebroside in the macrophages, which makes them ineffective and hence they misshapen. This situation leads to the cells being termed as Gaucher cells. The clinical symptoms of the disease normally result from the ungraded macromolecule. The cells mainly deposit in organs such as the spleen, liver and bone marrow. In addition, lungs, heart, and the nervous system can be affected.

Types of Gaucher Disease

There are three types of Gaucher disease; type 1, 2 and 3. Type 1 is the common form of the diseases and affects people of any age. The main depictions of the disease are the liver and spleen enlargement, dysfunction of the kidney and lungs and fractured bones. The average age of diagnosis is mainly 20 years for the white people. The clinical features entail accumulation of lipid-laden macrophages that accumulate throughout the body. The bone marrow may be involved followed by subsequent infarction, necrosis, and ischemia. Other symptoms may include thrombocytopenias and anemia. Despite the enlargement of the liver and the spleen, sphere dysfunction of the liver is not common in the Gaucher disease type 1(Harrison, 2008).

The Gaucher disease can affect anyone; however, the type 1 Gaucher disease is an inherited disease among the Jews belonging to the Ashkenazic descent. For the disease to be passed to the children, both parents must be carriers of Gaucher gene (Wenstrup et al., 2007). On the other hand, type 2 Gaucher disease is not common. However, it is a severe central nervous disease among the infant and babies i.e. it affects the brain. The type 3 is characterized by enlargement of the spleen and the liver. The brain is also slowly affected. The age groups affected by the Gaucher type three disease are the adolescents and children.

Diagnoses and Management

The diagnosis of the Gaucher disease is by the measurement of the activity of the enzyme. The treatment entails enzyme therapy in the affected patients. Other management therapies entail symptomatic management such as joint replacement surgery for the fractured bones and enzyme therapy replacement (Wenstrup et al., 2007). The enzyme replacement therapy involves use of an artificial enzyme, which helps in the reduction of the symptoms and prevents the irreversible damage. In addition, oral medications that prevent the build-up of the glucocerebroside in cells can be an alternative. Severe cases that are not responsive to the conventional treatments necessitate invasive approaches such as the bone marrow transplant and removal of the spleen.


Harrison, T. R. (2008). Harrison’s principles of internal medicine. New York: McGraw- Hill.

Wenstrup, R. J., Kacena, K. A., Kaplan, P., Pastores, G. M., Prakash‐Cheng, A., Zimran, A., & Hangartner, T. N. (2007). Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. Journal of Bone and Mineral Research, 22(1), 119-126.

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