We are all cursed with unwanted genes and traits passed along from ancestors. But what if in that family history lurks a potentially preventable threat to your health?
Familial Hypercholesterolemia (FH) is a life threatening genetic disorder of cholesterol metabolism, characterized by severe elevations in cholesterol levels and early heart disease. It is also one of the most common genetic disorders, affecting 1 in 250. But, ironically, only 10 percent of those affected are properly diagnosed, meaning 90 percent of patients go undiagnosed until they have a potentially fatal cardiac event. So, recognizing and treating FH is a public health issue of significant gravity, with preventable negative outcomes.
FH is a unique disorder in the sense that most physicians have historically understood this to be a rare disorder, but FH is twice as common as once thought. FH is also asymptomatic, meaning individuals with it generally appear very healthy, until a life threatening event, such as a heart attack, ensues.
FH results from an inability of the body to recycle the excess cholesterol in the blood stream, resulting in significant elevations of a type of cholesterol called LDL cholesterol, which has the ominous potential to accumulate in the artery wall. Overtime, the LDL cholesterol accumulation contributes to plaque formation in arteries, called “atherosclerosis,” which ultimately lead to cardiac events, like heart attacks.
Timely “screening” for this disease is crucial, since it is the duration and degree of cholesterol elevation that ultimately determines the extent of blockage in the artery.
All adults should generally be screened for cholesterol disorders beginning at 20 years old.
All children should be screened between age 9 to 11 years. Screening could occur earlier, beginning at 2 yrs of age, if there is family history of high cholesterol or premature heart disease, or when there is co-existent diabetes, high blood pressure or obesity.
FH is an autosomal dominant disorder meaning, if one parent has FH, the chances of passing the FH gene onto their children are 50/50. As a physician, I have heard one too many times the tragic story of a family member refusing to get screened and succumbing to a fatal heart attack in the prime of their life.
We now have excellent therapies for the management of this serious cholesterol disorder; namely oral agents, injectables (recently approved by the FDA), as well as special procedures that mechanically remove the excess cholesterol from the circulation. Most individuals with FH will require a combination of these options, but are now able to enjoy lifespans comparable to the general population, when treated adequately in a timely manner. Even with multiple treatment options, it’s important to recognize a healthy lifestyle is still the cornerstone of any heart disease prevention program.
FH may not be preventable, as we have little control over our genetic makeup, but the deadly consequences of FH are certainly conquerable — it is a “preventable” tragedy.
For more information about the TMH Physician Partners – Metabolic Health Center, Visit TMH.ORG/MetabolicHealth