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Flashcards in Dyslipidemia Group Discussion Deck (12):

How does a patient with familial hypercholesterolemia present?

usually the LDL cholesterol is outstandingly high and it often occurs in a young patient without many other risk factors


What is the mechanism of disease for familial hypercholeterolemia? (primary, atypical and secondary causes)

any problems in the process of getting receptor to the surface or getting working receptor

atypical presentation can be due to apo-B-100 deficiency, or secondary causes like hypothyroidism, Cushing, renal dysfunction, liver disease and pregnancy)


How should you council a patient with familial hypercholesterolemia regarding lifestyle and medication?

TLC or Mediterranean diet, with low saturate, and low transfats, low refined carbs plenty of vegetables and fruits, addition of soy proteins and sterols/stanols

people with genetic dysfunction really fall outside the risk calculator/ normal clinical decision making; statin on a low dose will reduce future risk (complications with pregnancy), possible to add psyllium or resin at a low dose

patients with genetic disease are often to resistant to diet changes


How does a patient with combined familial hyperlipidemia present?

borderline to high TG, low HDL and moderately high cholesterol (1/50 patients) - small dense LDL-C particles


What is the mechanism of disease with combined familial hyperlipidemia?

due to an overproduction of apo-B-100, many also have associated LPL abnormalities


How do you council a patient with familial combined dylipidemia? (lifestyle and meds)

suggest TLC diet and Mediterranean diet: a low fat diet, encourage lean protein and limit refined carbs and alcohol; weight management and physical activity are top priorities

niacin and omega's to address both the HDL and the LDL would be reasonable, most change is expected with diet and exercise


How does metabolic syndrome present typically?

three or more of the following:
elevated TG >150
elevated blood sugar >100
elevated blood pressure >130/85
or reduced HLD-C <50 women

or on meds for any of these conditions


What is the pathophysiology behind metabolic syndrome?

constellation of risks, HTN, body composition- esp central obesity, high glucose/insulin insensitivity,


How do you council a patient with metabolic syndrome regarding lifestyle and medication needs?

weight management and physical activity are top priorities, exercise will have benefit with weight, HDL-C, TG and blood sugar; patients should limit simple sugars, saturated fats and alcohol

meds are definitely considered for HTN and cholesterol, sometimes glucose management aids


What is the presentation of familial hypoalphalipoproteinemia?

low HDL-C, can be accompanied by cataracts and arcus corn as, triglycerides may be slightly elevated within normal and LDL may be low because small dense LDL particles have formed (TG have been transferred to VLDL)


What is the mechanism of hypoalphalipoproteinemia?

disorder cause by a defect in ABC1 (cholesterol transporter in extra hepatic tissue) required for making nascent HDL


How would you council a patient with hypoalphalipoproteinemia?

exercise, increase soy or stanol/sterol with more mono saturated fats

adding fish oils, niacin or fib rates are possibilities but may be best to work on diet and if LDL comes up to manage with statins (may be difficult with diet alone)