News from the American Heart Association
10:01 EDT, Friday May 29, 2020
New research suggests that an inherited disorder that causes high cholesterol in the early stages of life appears to affect around 25 million people worldwide, but is particularly common among people with cardiovascular disease.
The findings, published Friday in the American Heart Association's Circulation journal, "set a good example" for screening programs to identify family hypercholesterolaemia early, said the study's senior author, Dr . Antonio J. Vallejo-Vaz, researcher at Imperial College London.
The global analysis of dozens of studies that included millions of people from Europe, the United States and elsewhere revealed that 1 in 311 people in the general population has FH.
"This document really tests the number of people who have FH," said Mary Ann Champagne, a clinical nurse specialist and senior scholar at Stanford Healthcare in California, who was not involved in the study. "When I started working in the field, it was estimated at 1 in 500."
That number reaches around 1 in 17 of people with cardiovascular disease like heart attack, according to the study. It is 18 times higher than the general population. However, it is estimated that less than 10% of people worldwide with FH have been diagnosed.
The condition affects LDL "bad" cholesterol, causing plaque to build up in the blood vessels, shrinking them over time. Research shows that people with LDL levels of 100 mg / dL or lower tend to have lower rates of heart disease and stroke, claiming a "lower is better" philosophy, according to American College Cholesterol Guidelines of Cardiology and the American Heart Association.
When FH is left untreated, adults can have LDL levels above 190 mg / dL and children above 160 mg / dL. This causes the development of heart problems much earlier. At the age of 10, children with FH often have thicker aortic lesions and carotid arteries than siblings who did not inherit the condition. And plaques can be detected in about a quarter of teenagers with FH.
If left untreated, many people with FH begin to experience angina or have heart attacks in their 30s, and the condition significantly reduces life expectancy in most people. However, for reasons not well understood, some people with FH do not experience heart problems late in life and some never develop heart disease.
Vallejo-Vaz is the coordinator of the collaboration for the studies on family hypercholesterolaemia of the European Society of Atherosclerosis, a global registry to investigate FH. He calls the condition a "public health challenge" and says doctors should consider it as a potential cause of cardiovascular disease, particularly in young people. Identifying such cases offers an opportunity to test family members and help prevent the consequences of FH through early diagnosis and treatment, the researchers said.
"People with heart attacks can be more sensitive to genetic testing conversations," said Champagne. "However, many people don't like to think that they have a genetic disorder for themselves or because their children may be affected."
Additionally, a diagnosis of FH raises many questions, Champagne said. "How will I pay for this? Will my health insurance cover a pre-existing condition? What impact will it have on my life insurance? How will it affect my decision to have children?"
But knowing the diagnosis allows healthcare professionals to treat FH with diet, exercise and medications, potentially reducing the risk of heart attacks and strokes. In addition to statins and other common cholesterol-lowering drugs, a class of drugs called PCSK9 inhibitors can reduce LDL in people with FH. By blocking the PCSK9 protein, the drugs release multiple receptors on the liver to remove LDL from the blood.
Champagne hopes that the global study will serve as an impetus for a closer look at what is happening in the United States. "Identification and treatment in the United States is a big deal," he said. "But improving this could have far-reaching effects."
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