Biomedical Laboratory Science

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Showing posts with label Genetic Disorder. Show all posts
Showing posts with label Genetic Disorder. Show all posts

Saturday, July 2, 2016

Inherited Cholesterol Disorder Significantly Boosts Heart Risks

People who inherit a genetic disorder that causes high levels of "bad" LDL cholesterol have an increased risk for heart disease and hardened arteries, a new study finds.

The condition is called heterozygous familial hypercholesterolemia. It's believed to affect about 1.5 million people in the United States, the researchers said.

The genes linked to this condition prevent the liver from removing LDL (low-density lipoprotein) cholesterol from the blood. This allows the bad cholesterol to build up. Doctors suspect this familial condition when LDL levels are above 190 milligrams per deciliter (mg/dL), the study authors explained.



Monday, May 30, 2016

New Gene Associated With Familial High Cholesterol

The gene that explains one quarter of all familial hypercholesterolemia with very high blood cholesterol has been revealed. Familial hypercholesterolemia is the most common genetic disorder leading to premature death, found in 1 in 200 people.

The reason why lipoprotein(a) concentrations are raised in individuals with clinical familial hypercholesterolemia is unclear. The hypotheses that high lipoprotein(a) cholesterol and LPA risk genotypes are a possible cause of clinical familial hypercholesterolemia, and that individuals with both high lipoprotein(a) concentrations and clinical familial hypercholesterolemia have the highest risk of myocardial infarction.


Clinical manifestation of Homozygous Familial Hypercholesterolemia, interdigital xanthoma
Source: labmedica
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