A history of bad hearts: cardiovascular disease and your genes

A 20-year-old with a family history of high cholesterol could be at risk of developing heart disease even if they live healthily. 

“If you have familial hypercholesterolemia (FH), your children have a 50% chance of inheriting it,” said Dr. Jose Donato A. Magno, executive director and cardiovascular chief of the Cardiovascular Institute at the Angeles University Medical Center, at a recent webinar by the Department of Science and Technology.  

FH, an inherited disorder that affects how the body recycles “bad” cholesterol, should be the primary goal of cholesterol screening, according to medical experts.  

LDL (low-density lipoprotein) — the so-called “bad” cholesterol — contributes to plaque formation in the arteries, causing decreased blood flow to the heart.  

People with FH have a higher risk of heart disease, said Dr. Rody G. Sy, a professor emeritus of the University of the Philippines-Manila’s College of medicine. Though the condition is present from birth, its symptoms may not appear until adulthood.   

Children with untreated FH have a “dramatic” increase in the risk of premature coronary heart disease (CHD) after the age of 20, Dr. Sy added. “Mortality rates from CHD in FH are 100 times greater in those between 20–39 years old,” he said. “It is four times greater in those between 40–59 years old.”  

To lessen the burden of the disease in adulthood, probe into the family history, Dr. Magno said.  

“We need to focus efforts on populations at risk to enhance our pickup of FH,” he added.  

Cascade screening, which identifies relatives who have the same genetic condition as a patient, reduces the average age of an FH diagnosis. Meanwhile, targeted screening — or the screening of specific populations — is recommended for children two years or younger if one or both biological parents are known to have hypercholesterolemia or are receiving medicines that lower lipids, or if there is a family history of premature atherosclerotic cardiovascular disease. 

Screening can be done through a blood test or through genetic testing.  

Dr. Magno added that the telltale signs of the disease are a buildup of fat around one’s knees, knuckles, and elbows; and a silvery color in the shape of a half-moon on the outside of one’s cornea. 

When it comes to LDL cholesterol, remember the number 190 mg/dL, said Dr. Lourdes G. Santos, preventive cardiology head of the Cardinal Santos Medical Center.   

“If you see this number, let it [kick start] your journey into discovering if you have FH,” she said. “That is a red flag for screening.”   

The optimal level of LDL is less than 100 mg/dl among adults. — Patricia B. Mirasol