The Disease Has Been the Bane of Civilization - Essay Example

Disease has always been the focus of study in medicine in response to death and unyielding sickness; physicians diligently dedicated themselves to understanding any given contagion and developing prevention methods against it. As physicians perform and discover better research techniques, they discovered not all diseases are caused by pathogens outside the body. Gaucher’s disease is one of many diseases which does not need any outside stimulation to wreak havoc in the body. Philippe Gaucher was a French doctor who discovered this disease in 1882 and mentioned it in his doctoral thesis.
(www.wikipedia.com)

To most researchers, it is considered lipoid granulomatosis of the reticuloendothelial system. (Shwartz, pg. 1935) The reticuloendothelial cells reside in the red bone marrow where the production and maturation of red blood cells commence. When there is a disturbance in the lipoid metabolism in the reticuloendothelial system due to the low levels of glucocerebrosidase, Gaucher's disease is the pathological diagnosis.

Many physicians misconstrue the diagnosis to other diseases since these diseases exhibit similar symptoms as Gaucher's disease. For example, joint pain, increase in white blood cells, edema in bone and cartilage, and death of femoral bone may be misdiagnosed as arthritis, chronic granulocytic leukemia, osteochondritis, and Perthe’s disease respectively. (www.cerezyme.com)

However, the observation of the glucocerebrosidase levels will aid physicians make the correct prognosis. Glucocererobrosidase is an enzymatic protein that helps breakdown a certain type of fat molecules. (www.cerezyme.com) These enzymes catalyze glucocerebrosides (fat molecules) into glucose and sphingosine. A victim of Gaucher's disease lacks this enzyme. Therefore, the undigested lipid molecules accumulate in the cytological framework within a cell. Cells containing undigested fat are referred to as Gaucher cells. Gaucher's disease can have many side effects depending on when or at what stage of development the deficiency of glucocerebrosidase begins. If the deficiency of this enzyme commences at an infantile age, fat deposition accumulates in the brain and causes mental retardation culminating in death. At the juvenile and adult stage, victims will experience an engorged spleen and kidneys with lipids. Also, mild anemia, hemorrhaging, and the fragility of bones accompanied by lipid deposition are experienced as well. It may also accumulate on neurons and lungs as well as increase the victim's risk of infection. Those who are of Ashkenazi Jewish heritage are susceptible to this type of metabolic disorder. (www.wikipedia.com) To have the correct diagnosis or treatment, a variety of tests may confirm the prognosis. A blood test can demonstrate abnormalities in blood and platelet counts; an X-ray can depict any damage or swelling to bone or cartilage. Moreover, special tests can be run to detect any neurological damage. Read More