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Gaucher Disease: A Rarity In Three Types

989 words - 4 pages

Gaucher Disease: A Rarity in Three Types

Ethnicity can provide individuals with wonderful traditions and celebrations of one's 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 by far in the Ashkenazi Jewish population, making it the most common genetic disease within this ethnic group.

While the Type I Gaucher Disease is non-neuronopathic (not affecting the nervous system) the second two types are neuronopathic. Yet even though the three types of Gaucher produce different symptoms, all three types result from the same cause: a lack of glucocerebrosidase enzyme. The glucocerebrosidase enzyme functions to break down the compound glucocerebroside, a fatty compound which usually is stored in all cells of the body in very small amounts. In Gaucher patients, an excess of glucocerebroside builds up in the body, and is stored abnormally in lysosome, or storage cells (3) . Typically, macrophages are able to aid in the degradation process of glucocerebroside. However, due to the lack of glucocerebrosidase in Gaucher patients, glucocerebroside stays in the lysosome, preventing macrophages from acting upon them. Macrophages which are enlarged and contain an abnormal buildup of glucocerebroside are known as Gaucher cells. (1) . In affected patients, Gaucher cells can be found in bone marrow, liver and spleen cells. (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 nonfunctional glucocerebrosidase genes (which are characteristic of Gaucher Disease) is passed o1n...

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