Familial Hypercholesterolemia Likely Underrecognized

MedicalResearch.com Interview with:

Dr. Sarah de Ferranti MD MPH Boston Children’s Hospital Director, Preventive Cardiology Program Assistant Professor of Pediatrics Harvard Medical School

Dr. Sarah de Ferranti

Dr. Sarah de Ferranti MD MPH
Boston Children’s Hospital
Director, Preventive Cardiology Program
Assistant Professor of Pediatrics
Harvard Medical School

MedicalResearch.com: What are the main findings?

Dr. de Ferranti: Familial hypercholesterolemia, or FH, is a genetic condition that causes severely elevated cholesterol levels from birth and is a leading cause of early heart attack. It is generally slowly progressive without symptoms until there is serious heart disease in the 3rd and 4th decade of life, making it important to look for it at a young age. Prior to this analysis it was thought that FH affected about 1 in 500 adults. The current study used data from 36,949 adults who took part in the 1999-2012 National Health and Nutrition Examination Survey (NHANES) and extrapolated to the 210 million U.S. adults aged 20 years and older. We identified cases of probably or definite Familial hypercholesterolemia in our analysis by using a combination of high levels of low-density-lipoprotein cholesterol (considered “bad” because it contributes to plaque buildup in arteries) and early heart disease in a person or close relative.

MedicalResearch.com: What are the main findings?

Dr. de Ferranti: We estimate that 834,500 U.S. adults may have Familial hypercholesterolemia. Men and women are affected equally.

There are racial differences, with FH estimated to affect 1 in 249 whites, 1 in 211 blacks, and 1 in 414 Mexican Americans.

MedicalResearch.com: What should clinicians and patients take away from your report?

Dr. de Ferranti: If you’re born with Familial hypercholesterolemia you have lifelong exposure to high cholesterol, making your heart attack risk similar to someone decades older. This is very different from someone who develops high cholesterol at age 50. If you have family members with high cholesterol and/or early heart disease, be sure to ask your doctor if you should be screened for a familial cholesterol problem. If it is diagnosed at a young age before heart disease events, medications can be used to reduce LDL levels and the risk of heart disease. It is particularly important to reduce or control other risk factors like hypertension and smoking, and to follow a heart healthy diet, get plenty of exercise and keep a normal weight. Children should also be checked for Familial hypercholesterolemia, particularly if there is early heart disease in the family, starting at age 2 years old so that they can learn to follow a heart healthy lifestyle.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Dr. de Ferranti: The next step to better understand familial hypercholesterolemia is to look at genetic testing in combination with cholesterol levels and family history. Genetic testing results were not available for the people enrolled in this study, but would help us better understand how the cholesterol, family history, and heart disease, relate to the genetic findings.

MedicalResearch.com: Is there anything else you would like to add?

Dr. de Ferranti: It is extremely important to make the distinction between mild to moderately high cholesterol that comes on in middle age due to weight, aging, a less than ideal lifestyle and very high cholesterol that has been present since birth, which has allowed the high cholesterol to build up in the arteries over decades.

Additionally, this is a family disease, meaning that if you have it, your daughter, your brother, you parent, your uncle, your cousin could have it. The only way to know is to get your cholesterol tested.

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)

Sarah D. de Ferranti, Angie Mae Rodday, Michael M. Mendelson, John B. Wong, Laurel K. Leslie, and R. Christopher Sheldrick

Circulation. 2016;133:10671072,doi:10.1161/CIRCULATIONAHA.115.018791Sarah.DeFerranti@CARDIO.CHBOSTON.ORG

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

More Medical Research Interviews on MedicalResearch.com

Dr. Sarah De Ferranti (2016). Familial Hypercholesterolemia Likely Underrecognized MedicalResearch.com