And they noticed an association of xanthomata, high cholesterol, and myocardial infarction. The first reports of FH interestingly came from dermatologists in the early part of 1930s.
Her lipoprotein(a) was significantly elevated at 190 milligrams per dL. Her lipid profile is shown here with a total cholesterol of 338 and LDL cholesterol of 285, an HDL of 31, and a triglyceride level of 114 milligrams per dL. And her son later turned out to have high LDL cholesterol of 271 milligrams per dL. When we take a family history, we note that her mother died at age 50 of coronary heart disease. And on physical examination, she has the stigmata that are characteristic of familial hypercholesterolemia, including tendons xanthomata, particularly near the Achilles tendon, as well as arcus senilis, as seen here in this picture. This is a 35-year-old woman, who presents with ST elevation anterior myocardial infarction. Let's start with this case, which illustrates the dramatic and often unexpected presentations that can be manifest with FH. I'll describe the presentation of clinical criteria and the associated ASCVD risk, the burden of FH in the community, the merit of cascade screening, and then how we can manage these patients with drugs. I'll be first starting with the historical perspective and describe the genetic basis of this disease.
IFTIKHAR KULLO MD UPDATE
Today, I'm going to give an update on familial hypercholesterolemia, which is a relatively common Mendelian disorder that is associated with a high risk of adverse cardiovascular events. And I'm a professor of medicine in the Department of Cardiovascular Disease, and also a consultant in the department. IFTIKHAR KULLO: Hello, my name Iftikhar Kullo. Presentation, clinical criteria and ASCVD risk (6:36).Historical perspective and genetic basis (0:58).Treatment for familial hypercholesterolemia includes drug therapy, and lifestyle modifications such as diet, physical activity and smoking cessation. Cascade screening also is important to identify additional family members who may carry this gene, as early treatment can be beneficial. Once a diagnosis has been established, additional testing including echocardiography, stress testing and lipoprotein (a) levels should be considered. Peoplewith familial hypercholesterolemia often present with atherosclerotic cardiovascular disease (ASCVD), xanthoma, arcus senilis and aortic stenosis. Familial hypercholesterolemia is also associated with a high risk of adverse cardiovascular events. For more information on familial hypercholesterolemia or to request an appointment, visit here.įamilial hypercholesterolemia is a common disorder that affects the way the body processes cholesterol.
Kullo, M.D., discusses familial hypercholesterolemia.
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