Totally rare disease that you'll want to know about!!!

Sitosterolemia

I. Introduction:

Sitosterolemia is very different and unheard of disease. It causes the person that it is effecting to not be able to produce its own cholesterol, instead your body uses plants to produce the cholesterol for it and ends up producing too much and causes your body to do unhealthy things such as have a heart attack. The reason I chose to write about sitosterolemia is because two of my uncles have it. Although one has it less severe than the other they both have a problem with it and it makes their life harder. My uncle that has it more severe has had a very difficult life. The cholesterol problem caused him to have his many heart attacks and eventually had him retire a lot early than he expected to. This changed a lot for him financially and has struggled to keep food on his table for his family. As of 2000 there were only 40 worldwide diagnosis of this disease. William Connor and Ashim Bhattacharyya were the two doctors that found this disease in 1974. And further research has been done since.


II. Discovery:
There is not much information on the finding of this disease. The way Connor and Bhattacharyya found out about it is when two sisters came to them with a large amount of tendon xanthomas but after researching more they also had a regular plasma cholesterol level; but later they were found to have a very high plasma level of plant sterol. These plant sterols were formed in beta-sitosterol, stigmasterol, and campesterol. The doctors characterized the sitosterolemia by tendon, tuberous xanthomas, and a strong ability toward premature coronary atherosclerosis(Steiner, eMedicine).(emedicine.medscape.com)


III. Biography:
William Connor was a very intelligent doctor that not only loved medicine, but also was a very good teacher, and a very innovative biomedical investigator. William loved to challenge the already existing theories and prove them wrong. He graduated from the University of Iowa and went directly into the Army during World War II. After William finished the war he went back to college to get his MD degree and worked at the Iowa City Veterans Administration Medical Center and worked his way up to the top until he moved to Oregon and worked at the Oregon Health and Science University. That is where he kept his research on lipids and nutrition until he died. William’s first thing that found national interest was his work on human cholesterol metabolism. This happened when he started on dietary cholesterol, and with very careful control of plasma cholesterol concentration he was able to prove that dietary cholesterol was important. William really believed in cholesterol restriction and kept on a healthy diet. William really liked the outdoors and sports. He would encourage physical activity until the day that he couldn’t do it himself and that’s what probably lead him to prove the effects of dietary cholesterol.(Spector, William E. Connor, MD)


IV. Impact of the World/Humanity:
Although this disease does not affect the world greatly because as of 2000 only 40 patients were found worldwide, it still affects the world. People such as my Uncle have had to live with this disease and face its consequences for a long time. There is no age range and has been found in patients as young as 18 months old. This disease greatly affects your cholesterol and causes you to have to watch out for what you eat because of the fact that you are more prone to have things such as a heart attack. There is not much information about this out there and are even fewer patients. Although it is not as likely to get as aids or even cancer it still kills people and makes lives harder.


V. Journal Article Review:
The Journal Article is talking about a 31-year-old woman that has been recommended to the national institute of Health Lipid Clinic five years ago when she was 26. This has affected her for a long time and she will probably have to live with this for as long as she lives. The Journal Article also talks about when sitosterolemia was found. It says that Connor and Bhattacharyya talked about two sisters with a lipid storage disease; which had high concentrations of plant sterols that was located in red blood cells, skin, etc. There were other cases that happened with people not related to these two sisters such as the one before.(Shulman,www.nejm.org)


VI. Bibliography:
• Shulman, Richard. "Sitosterolemia and Xanthomatosis." NEJM. N.p., n.d. Web. 15 Feb. 2011. .


• Spector, Arthur. " William E. Connor, MD -- Spector 30 (4): e2 -- Arteriosclerosis, Thrombosis, and Vascular Biology." ahajournals. N.p., n.d. Web. 15 Feb. 2011.

• Steiner, Robert. "Sitosterolemia." eMedicine. N.p., 6 Mar. 2009. Web. 6 Mar. 2009. .

Pictures!!!!
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