Dangerous Cholesterol Disease Often Overlooked by Doctors
A potentially dangerous and deadly form of cholesterol disease is often overlooked or undertreated by doctors, according to a new report from the European Atherosclerosis Society. What is this disease and what can you do about it?
What is hereditary high blood cholesterol?
Familial hypercholesterolemia, also known as hereditary high blood cholesterol, affects between 1 in 200 and 1 in 500 people, and it is a significant risk factor for premature heart disease. The authors of the new report, which was published in the European Heart Journal, estimated that 14 to 34 million people around the world have the disease.
This cholesterol disease is caused by a defect on chromosome 19, which makes the body unable to eliminate bad cholesterol (low-density lipoprotein, LDL) from the bloodstream. As a result, individuals are at high risk of narrowing of the arteries at a young age.
Unfortunately, familial hypercholesterolemia also is greatly underdiagnosed and undertreated in nearly 200 countries, according to the report. Two countries that have identified most cases of the disease and have provided treatment, however, are The Netherlands and Norway.
Outside of these two countries, people with this dangerous cholesterol disease typically are not diagnosed until they die unexpectedly at a young age or develop heart disease, according to the study’s lead author, Borge Nordestgaard, clinical professor at the Faculty of Health and Medical Sciences, University of Copenhagen. But these tragedies can be prevented.
How to identify familial hypercholesterolemia
Identification of familial hypercholesterolemia is as easy as taking a simple blood test and asking if someone has a family history of early-onset heart disease. That means young children who have such a family history should have their cholesterol levels checked.
Symptoms of the disease may include xanthelasmas (deposits of cholesterol in the eyelids), chest pain, and xanthomas (accumulations of fatty skin on the hands knees, ankles, and elbows).
Strong indications of the disease are the following cholesterol levels: Adults who have a total cholesterol level greater than 309 mg/dL (8 mmol/L) and an LDL of greater than 220 mg/dL; and children who have cholesterol levels greater than 232 mg/dL (6 mmol/L) and LDL levels greater than 170 mg/dL. However, a gene test should be performed to verify the diagnosis.
For the sake of comparison, a desirable total cholesterol level for adults is less than 200 mg/dL (5.2 mmol/L) while a high cholesterol value is considered to be 240 mg/dL or higher (6.2 mmol/L or greater). An LDL level of less than 100 mg/dL (less than 2.6 mmol/L) is considered ideal for people who are at risk for heart disease.
The bottom line
John Chapman, professor at the Pitie-Salpetriere University Hospital in Paris and one of the study’s coauthors, noted that “It is surprising and sad that even rich countries with highly developed health systems fail to help these people.” Diagnosis of familial hypercholesterolemia is easy and not expensive, and treatment with statins as well as a low-fat, low-cholesterol diet and exercise can help lower cholesterol. Other drug treatments may include ezetimibe (Zetia), fibrates (e.g., gemfibrozil), and nicotinic acid.
As for prognosis, individuals who have inherited one copy of the defective gene are typically more responsive to treatment than those who have inherited two copies. Therefore, the former group of people with this cholesterol disease has a better chance of delaying or reducing the chance of heart disease than does the latter group.
University of Copenhagen