Deck 17: Familial Hypercholesterolemia

Question 1

Which of the following best describes the result of a having a defective or absent cell surface receptor on low-density lipoprotein cholesterol (LDL-C)?

A) Unregulated synthesis leads to excess cholesterol in tissues
B) There is increased destruction of LDL-C receptors
C) Normal binding of LDL-C particles is inhibited
D) Severe atherosclerosis begins to develop in middle age

Answer 1

A
Explanation: When LDL receptors are absent or defective, unregulated synythesis of LDL-C occurs and excess cholesterol accumulates in the body and is deposited in tissues in abnormal amounts. Therefore, A is the correct answer.

Question 2

Which of the following factors can initiate the development of atherosclerosis from plaques within blood vessel walls?

A) Alcohol use
B) Smoking
C) Hemorrhage
D) High sodium intake

Answer 2

B
Explanation: Lifestyle choices, including diet, exercise, and smoking, strongly influence the amount of cholesterol in the blood, which contributes to the development of atherosclerosis and increased plaque deposits on blood vessel walls.

Question 3

A 35-year-old patient presents to the emergency department complaining of an episode of midsternal chest pain last evening that persisted for 2 hrs. He began to feel nauseous after dinner and went to bed early. He was awoken in the middle of the night with a "squeezing" feeling in his chest. He states the pain was a 6/10. He sat upright until the pain finally decreased. At present, the pain is 4/10. What other findings would support a diagnosis of familial hypercholesterolemia?

A) A history of cigarette smoking for 20 yrs
B) Abnormal electrocardiogram (EKG) findings
C) Presence of xanthelasmata under both eyelids
D) Reported 30 lb weight gain in 2 months

Answer 3

C
Explanation: Xanthelasmatas occur when cholesterol deposits accumulate in the skin. They may also accumulate in the tendons and the peripheral border of the cornea, resulting in arcus corneus. These growths are a clear sign supporting a diagnosis of familial hypercholesterolemia.

Question 4

At what age should screening for familial hypercholesterolemia begin in a family with a positive history for hypercholesterolemia?

A) Screen once other comorbidities are present
B) All persons should be screened routinely at age 20 years
C) Screening should begin at age 2 years
D) Universal screening should begin at age 17 years

Question 5

Once the presence of hyperlipidemia has been confirmed, what would be the purpose of identifying the phenotype by using the Fredrickson classification?

A) To identify which type of mutation is present
B) To assess the degree of atherosclerotic plaque deposition
C) To predict a person's long-term prognosis
D) To assist in determining the appropriate pharmacotherapy

Question 6

According to the US Department of Health and Human Services, what is the management goal for the LDL level in a patient with 2 or more risk factors for coronary heart disease (CHD)?

A) Less than 80 mg/dL
B) Less than 100 mg/dL
C) Less than 130 mg/dL
D) Less than 160 mg/dL

Question 7

Which of the following agents is the most effective agent for lowering LDL-C?

A) Cholesterol absorption inhibitors
B) Statins
C) Fibric acid derivatives
D) Bile-acid-binding resins

Question 8

An obese 32-year-old male has been diagnosed with familial hypercholesterolemia. Despite a 10 lb. weight loss and smoking cessation, his LDL-C remains elevated. He agrees to initiate statin therapy. In addition to monitoring his LDL-C level, what else should be monitored?

A) His continued adherence to weight loss
B) His exercise tolerance
C) His level of cognitive function
D) His liver enzymes

Question 9

What is the mechanism of action of statin drugs?

A) They block intestinal absorption of cholesterol
B) They reduce the synthesis of triglycerides
C) They inhibit the enzyme implicated in cholesterol production
D) They bind the cholesterol in bile acids in the intestines

Question 10

What effect does an increased fiber intake have upon cholesterol?

A) Fiber increases HDL-C levels
B) Fiber decreases cholesterol levels
C) Fiber decreases triglycerides
D) Fiber increases LDL-C levels