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Category: Cardiology--->Hyperlipidemia
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Question 1# Print Question

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder resulting from mutations leading to impaired hepatic clearance of low-density lipoprotein (LDL) from the circulation.

All of the following statements are true regarding heterozygous FH except that

A. it occurs in 1 in 5,000 persons
B. it is associated with serum low-density lipoprotein cholesterol (LDL-C) two to three times above the average
C. it is associated with four- to sixfold increased risk of premature coronary heart disease (CHD)
D. without treatment, the average age for development of symptomatic CHD is 45 years in men and 55 years in women
E. ninety percent of FH heterozygotes exhibit detectable xanthomas on the extensor tendons of the hands or on the Achilles tendons by the age of 39

Question 2# Print Question

Phenotypic presentation of FH has been demonstrated to be caused by various mutations associated with all but one of the following:

A. Defects in the hepatic LDL receptor (LDL-R)
B. Defects in apolipoprotein B (apoB)
C. Loss-of-function mutation of PCSK9
D. Loss-of-function mutation of LDLRAP1

Question 3# Print Question

A 31-year-old man is referred to you for hyperlipidemia assessment. He has no previous cardiovascular history himself and denies any first-degree relatives with a history of CHD although his father and paternal uncle are treated for elevated cholesterol and triglycerides (TGs). He reports that two uncles and a cousin have had heart attacks at young ages. His physical examination reveals a body mass index (BMI) of 32, arcus cornea and xanthelasmas but no xanthomas, and a blood pressure (BP) of 150/80 mmHg. His fasting lipid profile is as follows: total cholesterol (TC) 300 mg/dL, TGs 430 mg/dL, high-density lipoprotein cholesterol (HDL-C) 50 mg/dL, direct LDL-C 202 mg/dL. Fasting blood glucose is 112 mg/dL.

Which primary dyslipidemia is this patient most likely to have?

A. Polygenic hypercholesterolemia
B. Heterozygous FH
C. Familial combined hyperlipidemia
D. Hyper-apobeta-lipoproteinemia
E. Familial endogenous hypertriglyceridemia

Question 4# Print Question

Which of the following statements regarding FH is NOT true?

A. The Food and Drug Administration (FDA) indications for LDL apheresis after maximal tolerated pharmacologic therapy include (a) homozygous FH patients and (b) heterozygous FH in the absence of CHD when LDLC ≥300 mg/dL and in the presence of CHD when LDL-C ≥200 mg/dL
B. Mipomersen (which inhibits the translation of apoB100 mRNA, thus blocking the production of apoB100 and formation of very low-density lipoprotein [VLDL] and LDL particles) lowers LDL-C by 28% to 36% in individuals with homozygous and heterozygous FH
C. TC levels are generally >600 mg/dL with LDL-C levels 6- to eightfold higher than average in individuals with homozygous FH
D. Lomitapide has been approved to treat homozygous and heterozygous FH
E. Simon Broome Register Group criteria for definite FH requires (a) TC >290 mg/dL in adults or TC >260 mg/dL in children under 16 years OR LDL-C >190 mg/dL in adults or >155 mg/dL in children PLUS (b) tendon xanthomas in the patient, or first- or second-degree relative OR DNA-based evidence of mutations such as LDL-R mutation or familial defective apoB100

Question 5# Print Question

Recent statistics from the American Heart Association (AHA) Statistical Update in 2014 report that all of the following regarding dyslipidemia in the United States are true EXCEPT that:

A. 98,900,000 U.S. adults over 20 years of age have elevated TC >200 mg/dL (43.4%)
B. 35.8% of adults have LDL >130 mg/dL (71 million adults)
C. 48.7 million adults (21.8%) have HDL <40 mg/dL
D. National Health and Nutrition Examination Survey (NHANES) data through 2006 reported that 10.3% of adolescents (12 to 19 years) have abnormal lipid levels
E. inadequate control of dyslipidemia is responsible for 4 million yearly deaths worldwide and 350,000 in the United States

Category: Cardiology--->Hyperlipidemia
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