Sentences with phrase «familial hypercholesterolemia»

A similar mutation, detected by S1 nuclease mapping of LDL receptor messenger RNA, occurred in a patient with familial hypercholesterolemia whose receptor also fails to be transported to the cell surface.

That was for mipomersen, a medicine used to treat familial hypercholesterolemia, a hereditary condition that causes massive increases in LDL cholesterol.

1) A genetic Condition called Familial Hypercholesterolemia which affects 1 in 500 people, where a person's liver expresses much less LDL receptors and is therefore unable to clear «used» cholesterol in LDL particles from the blood

They showed that mutations in this receptor cause Familial Hypercholesterolemia, a disorder that leads to premature heart attacks.

Inherited metabolic disorders, like familial hypercholesterolemia, alpha -1-antitrypsin deficiency, and glycogen storage diseases, involve defective genes that cause metabolic enzyme deficiencies and liver dysfunction.

- Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolemia; Daniel J. Rader, MD, Perelman School of Medicine at the University of Pennsylvania.

Statins have saved the lives of many who have genetic familial hypercholesterolemia.

Color announced Thursday that it's introducing a Hereditary High Cholesterol Test that can detect a genetic mutation indicating Familial Hypercholesterolemia (FH), a genetic disorder which leaves carriers with high cholesterol that often leads to early heart disease.

«Combining polygenic screening with current testing for familial hypercholesterolemia could potentially increase five-fold the number of cases for which a genetic explanation can be found,» he added.

Monies have gone to fund such projects as a postdoctoral fellow studying familial hypercholesterolemia, evaluating the efficacy and safety of a new drug for congenital hyperinsulinism, and identifying molecular targets for Pitt - Hopkins Syndrome treatments.

Their discovery of the LDL receptor as the major molecule regulating cholesterol metabolism and its genetic disruption in the human disease familial hypercholesterolemia have been recognized by their receipt of numerous awards, including the Nobel Prize in Physiology or Medicine (1985), the Albert D. Lasker Award in Basic Medical Research (1985), and the U.S. National Medal of Science (1988).

The genetic condition familial hypercholesterolemia causes blood - cholesterol levels three to seven times higher than normal in humans.

While heart attack risk tends to go up with age, there are genetic conditions that may cause a young person to have a heart attack, such as familial hypercholesterolemia, which may be as common as 1 in 250 people worldwide.

Rates of cholesterol screening and awareness were high (more than 80 percent) among adults with definite / probable familial hypercholesterolemia and extremely high cholesterol, but only 38 percent of them took statins.

Inearlier times, people with familial hypercholesterolemia lived longerthan other people!

Mipomersen (Kynamro) reduces low - density lipoprotein (LDL) cholesterol by silencing a gene that produces apolipoprotein B - 100, a building block of LDL; the drug can treat familial hypercholesterolemia, an inherited disease that may cause heart attacks at an early age.

Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolemia;

However, there are rare occurrences where high blood levels of LDL cholesterol result from a genetic defect called familial hypercholesterolemia (FH).

An example comes from a patient with familial hypercholesterolemia — a disease that causes high blood levels of «bad» LDL (low - density lipoprotein) cholesterol because a cellular defect prevents the liver from absorbing LDL.

They showed that mutations in this receptor cause Familial Hypercholesterolemia, a disorder that leads to premature heart attacks in one out of every 500 people in most populations.

In some individuals with a common inherited condition that predisposes them to high cholesterol (familial hypercholesterolemia), lifestyle changes might not be enough to prevent early - onset heart disease.

Researchers evaluated the effectiveness and safety of statin treatment in 214 children with familial hypercholesterolemia (FH).

The Watanabe heritable hyperlipidemic (WHHL) rabbit, an animal with familial hypercholesterolemia, produces a mutant receptor for plasma low - density lipoprotein (LDL) that is not transported to the cell surface at a normal rate.

«These results suggest a significant polygenic contribution in individuals presenting with EOCAD [early onset coronary artery disease], which could be more prevalent than familial hypercholesterolemia,» the study states.

ABI indicates ankle - brachial index; ALT, alanine transaminase; ASCVD, atherosclerotic cardiovascular disease; CAC, coronary artery calcium; CK, creatine kinase; FH, familial hypercholesterolemia; LDL - C, low - density lipoprotein cholesterol; MI, myocardial infarction; RCT, randomized controlled trial; and ULN, upper limit of normal.

A study from an international research team finds that familial hypercholesterolemia — a genetic condition that causes greatly elevated levels of LDL cholesterol throughout life — accounts for less than 2 percent of severely elevated LDL in the general population but also increases the risk of coronary artery disease significantly more than does elevated LDL alone.

Management of familial hypercholesterolemia: a review of the recommendations from the national lipid association expert panel on familial hypercholesterolemia.

(89) People with familial hypercholesterolemia may need to eat less cholesterol.

The investigators also looked at a subgroup of patients with familial hypercholesterolemia, a genetic disorder that causes extremely high cholesterol that increases the risk of early heart disease.

Familial hypercholesterolemia (FH) is a condition characterized by extremely elevated total and LDL cholesterol levels, strong family history of heart disease, and fatty deposits under the skin, including the eyelids.

I have been diagnosed with familial hypercholesterolemia, however, I am not concerned at all.

You and your family may be genetically predisposed to high cholesterol levels, (familial hypercholesterolemia).

It would interesting to know if any of his intervention subjects were diagnosed with familial hypercholesterolemia.

When people tell me that there are no natural ways to treat familial hypercholesterolemia, I have to disagree.

This is supported by worsened cardiovascular outcomes for diabetics who use primarily insulin for controlling hyperglycemia compared to other therapies.17 Additionally, one study demonstrated that in those with Familial Hypercholesterolemia the difference between those who had had a Myocardial Infarction (heart attack) and those who didn't was that those who did have a heart attack were less insulin sensitive, and had higher insulin levels.18

It is used only in patients who have familial hypercholesterolemia.

Lipoprotein apheresis is a procedure that can be used to treat familial hypercholesterolemia.

Many doctors believe that most patients with familial hypercholesterolemia (FH) die from CHD at a young age.