Q&A: Familial hypercholesterolemia often 'hidden in plain sight'

When discussing high cholesterol with patients, physicians should consider the possibility of familial hypercholesterolemia, according to Ijeoma Isiadinso, MD, MPH, FACC, FASNC.

Familial hypercholesterolemia (FH) “has long flown under the medical radar,” according to a press release from Emory University, even though it is “one of the most common genetic causes of early heart attacks and premature coronary heart disease.”

Without treatment, people with FH have a much higher risk of heart attack and other adverse cardiological outcomes, according to the release. So, the Emory Heart & Vascular Center has ramped up efforts to identify and screen people who might be at risk.

Isiadinso, an associate professor of medicine in the division of cardiology and director of the Emory Center for Heart Disease Prevention, spoke with Healio about FH, common misconceptions, the condition’s underdiagnosis and more.

Healio: What is FH?

Isiadinso: FH is a common genetic disorder resulting in elevated levels of low-density lipoprotein (LDL), also known as the “bad cholesterol.” FH affects one in 500 individuals or 20 million people worldwide. Because it is an inherited disorder, affected individuals are born with high levels of LDL and that is not adequately cleared from the bloodstream. If one parent has FH, each child has a 50% chance of inheriting the disorder.

Healio: What are the consequences of FH?

Isiadinso: Due to the high levels of LDL, cholesterol can accumulate in the arteries and if untreated, can result in premature coronary heart disease or strokes. The risk of premature coronary heart disease is 20-fold higher in FH patients compared to those without FH. While diet and lifestyle can help to reduce the risk of heart disease and stroke, these measures alone do not sufficiently lower LDL levels in FH patients.

Healio: What are common misconceptions about FH among providers?

Isiadinso: One of the common misconceptions that I’ve encountered is that young individuals with very high levels of LDL will “outgrow it.” This is due to the lack of recognition and subsequent underdiagnosis of FH in young adults. I’ve seen several patients who have had very high LDL-C since their early 20s or 30s but were told they didn’t need their cholesterol treated because they were too young for it to pose any risk to their health. On the contrary, it is the lifetime exposure to high LDL-C levels that increases one’s risk of premature heart attacks and strokes, therefore early diagnosis and treatment is vital.

Healio: Only about 20% of people with FH receive a diagnosis. What can PCPs do to ensure more people are diagnosed?

Isiadinso: Firstly, providers must be aware of FH. If we are not aware of it, we cannot screen or treat the disease. As a result, our untreated patients are at increased risk of heart attacks and strokes. An initial clue that a person might have FH is if they have high LDL levels (> 190 mg/dl). The medical history can also be helpful as people with undiagnosed FH may share that they have family members with high cholesterol levels or premature coronary artery disease or strokes.

FH is considered a disease hidden in plain sight. This is because of the vast underdiagnosis of FH despite how common it is. It is estimated that more than 1 million individuals in the United States have FH but are currently undiagnosed.

Healio: How should PCPs screen patients for FH?

Isiadinso: A routine cholesterol panel can identify people who might have FH. Further genetic testing is also available, but not necessary, to confirm the diagnosis. Physical findings such as tendon xanthomas, corneal arcus or xanthelasmas, if present, can also raise the suspicion of FH and should prompt testing. Cascade screening is a method of identifying other affected family members once the index patient has been diagnosed. This involves checking the cholesterol level of all first-degree relatives of people with FH.

Healio: How can PCPs help patients with FH prevent possible adverse events, such as myocardial infarction and stroke?

Isiadinso: Early diagnosis and treatment can lower a patient’s risk of myocardial infarction or stroke. Treatment of FH involves lifestyle modification (including maintaining an adequate weight, following a heart-healthy diet, regular exercise and avoiding tobacco use) and medications that lower LDL cholesterol. Controlling other cardiovascular risk factors such as hypertension and diabetes also lowers future risk of myocardial infarctions and strokes in patients with FH. The presence of cardiovascular risk factors in FH patients increases their risk of coronary heart disease 2- to 3-fold.

Healio: How are physicians at Emory working to find and treat undiagnosed people living with FH?

Isiadinso: The Emory Center for Heart Disease Prevention has a team of physicians with expertise in treating patients with FH. Through screening, patient education and prompt treatment, our goal is to reduce the risk of cardiovascular disease in FH patients. Physicians from The Emory Center for Heart Disease Prevention are also collaborating with the Family Heart Foundation on a new initiative, FIND FH, to identify undiagnosed people who are suspected of having FH and notify both patients and their providers about the need for further evaluation.

Reference:

• Emory doctors and Family Heart Foundation team up to help patients with dangerously high cholesterol caused by genetic condition. https://news.emory.edu/stories/2022/11/hs_emory_cardiology_family_heart_foundation_familial_hypercholesterolemia_initiative/story.html. Published Nov. 29, 2022. Accessed Dec. 21, 2022.