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Rare Disease Forum by Genetidoc Genetic Clinic Forums Genetic Rare Diseases Hypercholesterolemia How is genetic (familial) hypercholesterolemia different from high cholesterol c

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      Anonymous
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      How is genetic (familial) hypercholesterolemia different from high cholesterol caused by diet and lifestyle?

    • #514

      Diet- and lifestyle-related high cholesterol usually develops gradually, is influenced by factors such as saturated fat intake, physical inactivity, body weight, and other health conditions, and tends to respond reasonably well to lifestyle changes and standard doses of cholesterol-lowering medication. Familial hypercholesterolemia, in contrast, is present from birth, produces very high low-density lipoprotein cholesterol levels even in people with a healthy diet and normal weight, and often shows up as early heart disease in the person or their close relatives, sometimes before the age of fifty. Physical signs such as fatty deposits around the eyelids or in the tendons of the hands and Achilles tendon can also point toward the genetic form. Because the underlying mechanism is a faulty clearance pathway rather than excess intake, familial hypercholesterolemia usually needs a combination of high-intensity medication and, in some cases, additional targeted therapy rather than lifestyle change alone.

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