Gaucher Disease A Rarity in Three Types Essay examples

Gaucher Disease: A Rarity in Three Types Ethnicity can provide individuals with wonderful traditions and celebrations of ones heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher disease was first described in 1882 by Doctor Philippe Charles Ernest Gaucher from France (2) . Type I , the most frequently seen form of the disease, can affect people of multiple ethnic backgrounds. However, its prevalence is greatest†¦show more content†¦(2) . Each of the three types of Gaucher Disease affect many systems of the body. Type I of the disease, which is the most mild form and is most frequently seen, is the only form of Gaucher which does not affect the nervous system. Typically, the average age of onset for Type I Gaucher is 21 years (6) . Approximately 1 in 10 Ashkenazi Jews is heterozygous for type I. Although the condition is non-neuronopathic, patients can exhibit a wide array of symptoms ranging from increased spleen and liver volume, lung compression, a variety of bone problems including lesions, bone tissue death and pain, and anemia and easy bruising. Individuals with Type I Gaucher Disease typically have a life span of 6 to 80 years (5) . Within families, the severity of Type I of the condition varies immensely, thereby making it impossible to determine which family members will suffer from the most severe symptoms. Gaucher Disease is different from most other autosomal recessive conditions in that one of the nonfunc tional glucocerebrosidase genes (which are characteristic of Gaucher Disease) is passed o1n to each of the patients offspring, causing them all to be carriers. Among Ashkenazi Jews, it has been presumed that around 1 in 450 Ashkenazi Jews has two mutated copies of the glucocerebrosidase gene (4) . While Type I Gaucher is by far the most common form of the disease, Type II is excessively rare; among newborns, less than 1 in 100,000 have Type