Hereditary High Blood Cholesterol Overlooked By Health Community

Connie K. Ho for — Your Universe Online

A new study from the University of Copenhagen recently revealed that high blood cholesterol is a serious hereditary disease that has been overlooked and has not been given effective treatments as compared to other illnesses.

In particular, the scientists discovered that there are more Danes who have high blood cholesterol than previously thought. They believe that few individuals and families with the disease have been identified; these same individuals have rarely been given statins, a drug that targets high cholesterol, for treatment. The findings were published in the The Journal of Clinical Endocrinology & Metabolism (JCEM).

“We have now investigated 69,000 Danes to see how many have hereditary high blood cholesterol and have undergone sufficient treatment for the disease. We can see that out of 137 people in Denmark 1 has hereditary high blood cholesterol. That corresponds to 40,000 people with the disease in the Danish population of 5.5 million,” explained Dr. Børge Nordestgaard, a clinical professor at the Faculty of Health and Medical Sciences at the University of Copenhagen, in a prepared statement.

The randomly selected participants were pooled from the Herlev/Østerbro Study.

The scientists measured the cholesterol level of all of the individuals and interviewed them about their statin use as well as their family’s health history. The study involved internationally recognized Dutch criteria for hereditary high blood cholesterol that was based on extremely high blood cholesterol levels and early-onset coronary disease in the participant and his/her family, along with findings of mutations related to hereditary high blood cholesterol.

Among the Danes who already exhibited high blood cholesterol due to hereditary factors, one-third stated they already had coronary disease and the other half of the group were already treated with statins. Those with hereditary high blood cholesterol who were not being treated had a 1,200 percent higher chance of developing coronary disease. Even if individuals with hereditary high blood cholesterol were undergoing treatment with statins, they still had a 900 percent higher risk than other individuals who have coronary disease.

“Never before anywhere in the world has the ordinary population been studied to see how many people and families with hereditary high blood cholesterol there actually are. It was previously assumed that only 1 out of every 500 people had it, so it was quite a surprise for us suddenly to find 3 ½ times as many people with this serious disease. At the same time, it was also startling to discover that a disease that can easily be prevented by treatment to reduce blood cholesterol has not been treated sufficiently,” noted Dr. Marianne Benn, a senior physician from the University of Copenhagen, in the statement.

Based on the findings, the team of investigators determined that approximately 15 million people through out the globe have hereditary high blood cholesterol. Many of the people are not diagnosed with the disease and, as a result, are not treated and have a higher risk of dying earlier from coronary disease. The World Health Organization (WHO) reported that coronary disease is the most common cause of death in adults throughout the world and at least 17 million die from coronary disease every year.

“We have known for decades about high blood cholesterol and how to prevent it. Nonetheless the disease is massively underdiagnosed and undertreated. This means that many people unnecessarily develop early-onset coronary disease and die far earlier than normal,” concluded Nordestgaard, who also serves as senior physician at Herlev Hospital.

Moving forward, the scientists hope to continue to identify the number of people who have hereditary high blood cholesterol and find the mutation that causes the disease so that they can better track families who are affected by this issue. The study comes at a critical time as many people suffer from high blood cholesterol and an elevated risk of coronary heart disease, such as angina or blood clots.

Researchers believe that hereditary high blood cholesterol may be caused by mutations in the LDL-receptor in the liver, which works to remove LDL particles with cholesterol from the blood. When the LDL-receptor cannot function correctly, the cholesterol level in the blood becomes higher and can cause atherosclerosis, heart attack and even early death.