A Clinical Trial Changed A Patient’s Perspective on Familial Hypercholesterolemia

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According to a story from the Baylor College of Medicine Blog Network, Terry Lim, a women with familial hypercholesterolemia, views her condition with a new perspective after participating in a clinical trial. Before the trial, she was forced to live in fear with dangerously high levels of cholesterol.

Familial hypercholesterolemia (FH) is a genetically linked condition that causes an affected to person to have unusually high levels of low-density lipoprotein (LDL) cholesterol. Many people with familial hypercholesterolemia are not responsive to the same treatment regimen that works to lower cholesterol in most people. With that said, a higher than typical dosage of statins is usually effective. High levels of LDL cholesterol is well known to increase the risk of cardiovascular disease, and people with FH are more likely to have deposits of cholesterol-rich fat on different areas of the body, such as around the eyelids, around the tendons of the hands, elbows, knees, and feet, and in the outer margin of the iris. To learn more about familial hypercholesterolemia, click here.

While high statin doses are often sufficient to control cholesterol levels in people with FH, for Terry Lim, it simply was not enough, even considering her active lifestyle and strict dieting. She feared that her dangerous cholesterol levels would lead to an early death. After learning about her diagnosis, she signed up to test a new treatment for the condition, but eventually placed her FH in the back of her mind after moving overseas with her husband. Since the condition has no discomforting symptoms, it was easier to ignore, but reality came soaring back after she had a heart attack. She had to have triple bypass surgery and had to have one of her heart valves replaces due to damage. This was all while taking a high dose of statins.

She eventually joined a trial testing a PCSK9 inhibitor, which targets a protein in the liver that is responsible for regulating LDL cholesterol levels. Inhibiting the PCSK9 protein and reducing its prevalence allows for the body to remove cholesterol more effectively. She was also still able to continue her statin regimen.

Participating in the trial probably saved her life, and the treatment was able to bring her cholesterol down to a normal level when used with statins. Terry still maintains her active lifestyle and balanced diet. Without the fear of sudden heart attacks, Terry is no longer haunted by her FH, and feels more comfortable making long term plans for the future.




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