Gaucher's+Disease


 * Gaucher's Disease **

Gaucher's disease is a chromosomal storage disorder that is inherited from a person’s parents. In someone who has Gaucher's disease, cells do not produce enough of an enzyme called glucocerebrosidase. This enzymes break down fatty substances and without enough of this enzyme, the fatty substances builds up in cells called Gaucher cells. [|(1)] Gaucher's disease is a progressive disease, the symptoms worsen over time.
 * Overview: **

Type 1: Type one is the most common type of Gaucher's disease. There is a huge probability of surviving with type one Gaucher's disease, but it could possibly be fatal. Type one affects all organs, except the brain with contributes to type one's fatality. [|(2)]

Type 2: Type two is the most deadly and the most rarest form of Gaucher's. Type two kills all organs very quickly. Individuals with type 2 disease will most likely die within in 2 years. [|(3)]

Type 3: Type three is rare, but not as rare and not as deadly as Type two. The life expectancy of an individual with Type three Gaucher's is between 20 to 40 years. Type three kills slowly and effects all organs including the brain.

Gaucher cell (pictured above)

Common symptoms of Gaucher's disease include increased spleen size, anemia, increased liver size, and low platelet count. Other rarer symptoms found in types 2 and 3 include lung disease; and bone problems, including pain, fractures, and arthritis. One study estimated their life expectancy at birth for people with type 1 Gaucher disease to be 68 years, compared with 77 years in the general population.
 * Signs and Symptoms: **

This disease is caused by a recessive allele, which means a couple's child only develops the condition if one mutated allele for this disorder is passed on from each parent. Also, it is located on chromosome one and affects both males and females.
 * Genetics: **

This disorder is not common in one specific area of the world. Ashkenazi Jewish ancestry has a higher occurrence of Gaucher's disease than any other ethnicity. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is one in 450. [|(4)] There is no reason why Gaucher's disease is more common in one ethnicity.
 * Distribution: **

This disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy. There is no good treatment for brain damage for type 2 and 3. Other treatments options include enzyme replacement therapy.
 * Management and Treatment: **

Enzyme Replacement Therapy: Treatment that involves intravenous infusions to correct the underlying enzyme deficiency that causes symptoms of Gaucher disease. Symptoms including over-sized spleen and low platelet count.


 * Miscellaneous: **
 * Among the general population, Gaucher disease occurs in roughly 1 in 50,000 to 1 in 100,000 people.
 * Sometimes, individuals with very mild symptoms, usually with type 1, may not even be aware that they have the disease.
 * Genetic testing can identify approximately 95 percent of carriers. [|(5)]

People with this disease have to deal with emotional, physical, and social challenges. People say this disease can be be ranged from mild pain or very severe pain. Some people with disease might even go through severe periods of skeletal pain, known as "bone crisis." Bones swell and become skinny. Society does not view this disease as a good thing, along with all cultures, it is viewed as a struggle. People with this disease could contribute to society to an extent since the major symptoms include over-sized spleen, which limits an affected person's working ability. This disease is named after the French Physician Philippe Gaucher, who originally described it in 1882.
 * Society and Culture: **

Philippe Gaucher (pictured below) media type="youtube" key="j_WcSgcK1Tw" width="560" height="315"


 * Further Research: **

For more information on Gaucher's disease, go to the [|National Gaucher Foundation].


 * Works Cited: **

1. “Learning About Gaucher Disease.” National Human Genome Research Institute (NHGRI), www.genome.gov/25521505/learning-about-gaucher-disease/.

2. “Gaucher Disease Type 1.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/2441/gaucher-disease-type-1.

3. “Gaucher Disease Types 2 & 3.” National Gaucher Foundation, www.gaucherdisease.org/about-gaucher-disease/what-is/type-2-3/.

4. Zimran, A, et al. Advances in Pediatrics., U.S. National Library of Medicine, Oct. 1991, www.ncbi.nlm.nih.gov/pmc/articles/PMC1683177/.

5. Bush, Allison. “Six Facts About Gaucher Disease | HealthCentral.” Constipation - Digestive Health | HealthCentral, Healthcentral, 28 Feb. 2013, www.healthcentral.com/slideshow/six-facts#slide=7.