Familial Hypercholesterolemia

By: Mikhail Kazimirov2nd Period Biology

Hypercholesterolemia Description

● Creator's name: discovery is credited to a team of German and Syrian researchers.

● Symptoms: Little to no symptoms, yellow cholesterol filled patches can form around body. Usually results in heart attacks.

● It's a common disease 3 million reported cases in the US. Extremely common in Druze people, a distinct ethnic group in South Syria. 1/300 In the world.

Mode Of Inheritance

● Caused by a defect on chromosome 19● According to U.S. National Library of medicine

it is an autosomal dominant disorder meaning you only need one gene from one parent to get it.

Treatment

● Bile acid-sequestering resins-blocks certain components of gastrointestinal tract.

● Ezetimibe-drug lowers cholesterol levels● Nicotinic acid-essential human nutrient● Most important treatment is eating healthy!!!● Can't be fully Cured.● Currently In trials-monoclonal ab to PCSK9: taking an

enzyme in humans, use it to cure hypercholestorlemia

Diagnosis

● Diagnosis made by taking blood sample and testing for high levels of low density lipoprotein (bad cholesterol)

● People do get genetic testing for this because this disorder can significantly shorten one's lifespan and being aware of its presence is necessary.

Quiz questions

● Can it familial hypercholesterolemia be permanently cured?

● Answer: no

● What form of treatment is currently in trials?● Answer: monoclonal ab to PCSK9

Works Cited

Brown, Michael S. "Physiology or Medicine 1985 - Press Release." Physiology or Medicine 1985 - Press Release. Nobel Media, n.d. Web. 07 Mar. 2015.

Bachtler, Barbra. "Discovery of a New Form of Familial Hypercholesterolemia." Discovery of a New Form of Familial Hypercholesterolemia. N.p., n.d. Web. 07 Mar. 2015.

"Familial Hypercholesterolemia: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 06 Mar. 2015.

"Autosomal Dominant: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 06 Mar. 2015.