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Familial hypercholesterolemia

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Familial hypercholesterolemia

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Flashcards

Familial hypercholesterolemia

8 flashcards
Questions

USMLE® Step 1 style questions USMLE

2 questions

USMLE® Step 2 style questions USMLE

1 questions
Preview

A 32-year-old woman presents to clinic with deposits in the supraorbital area as seen in the photograph. She states that she developed these skin findings over the past year. She takes no medications, has no diagnosed medical conditions, and does not visit a primary care physician. Family history is positive for her mother having passed away at the age of 50 secondary to a massive myocardial infarction. A lipid panel reveals normal triglyceride levels and a total cholesterol level of 420 mg/dL. In addition to dietary modificationhy, which of the following is the most appropriate treatment for her condition?

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Transcript

Content Reviewers:

Viviana Popa, MD

With familial hypercholesterolemia, familial means the disease runs in families, so it has a genetic predisposition, hyper means excess and lastly cholesterolemia refers to the level of cholesterol in the blood.

So, familial hypercholesterolemia is a genetic disorder associated with high levels of cholesterol in the blood.

Now, cholesterol is a lipid molecule, so a type of fat, that normally helps maintain the structure of cell membranes, and is a precursor to steroid hormones, bile acids, and vitamin D.

There are two main types of cholesterol: LDL or Low Density Lipoprotein which is sometimes called “bad cholesterol,” nad HDL or High Density Lipoprotein which is sometimes called “good cholesterol.”

But good and bad is overly simplistic, and like all things - the subtleties matter.

LDL is produced by the liver and it carries cholesterol out to the rest of the body.

If all of the cholesterol from LDL is not completely distributed to the peripheral cells, then HDL brings some of that cholesterol back from the peripheral tissues and sends it to the liver.

Now, what makes LDL bad and HDL good is that, whenever there’s a high blood concentration of LDL, the LDL can be ingested by macrophages that sit along vessel walls, forming atherosclerotic plaques.

Over decades, large atherosclerotic plaques can lead to myocardial infarctions, strokes, and peripheral vascular disease.

That’s why we want to keep LDL blood levels under control.

On the other hand, HDL can remove cholesterol from cells and that can help reverse the process of atherosclerosis.

Now, our body usually keeps LDL cholesterol