Familial Hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C) from birth, leading to an increased risk of early-onset heart disease. Individuals with FH have a genetic mutation that disrupt the body's ability to clear cholesterol from the blood, necessitating early and often aggressive management to decrease cardiovascular risk. Thankfully, advancements in recent years now offer patients with FH numerous ways of achieving more optimal lipid levels. We employ a comprehensive strategy for our patients with FH, including genetic testing, cascade screening of family members, and a multi-prong approach to cardiovascular risk including lipid-lowering therapies and assessment and targeting of Lp(a)-, inflammatory- and obesity/diabetes-related risks, if applicable.
Lipoprotein(a), or Lp(a), is a kind of particle found in our blood composed of protein and lipid. It is similar in size to LDL. Lp(a) causes heart problems, including heart attacks, clogged arteries, and a heart valve problem called aortic stenosis. Elevated Lp(a) is relatively common, affecting approximately one in five adults, and can exist even when LDL-Cholesterol levels are within reasonable ranges. Lp(a) is passed down in families, meaning that it is mostly genetically inherited, and it is mostly unrelated to diet, exercise and other lifestyle factors. With a few exceptions, Lp(a) levels remain relatively stable over a lifetime. Lp(a) is not part of a standard lipid panel and unfortunately very few people know their Lp(a) level. Current guidelines advocate for Lp(a) screening, with some suggesting universal adult testing. Identifying high Lp(a) levels allows for tailored risk stratification and management, incorporating both established and emerging therapeutic strategies. We serve as a site for screening for Lp(a)-lowering trials, and many of our patients participate in these trials.
