Biochemistry Quiz#29 Familial Dyslipidemias

1. A 15-year-old male presents with tendinous xanthomas on his Achilles tendons. His father had a myocardial infarction at the age of 45. Laboratory tests reveal elevated LDL cholesterol levels. Which genetic mutation is most likely responsible for this patient's condition? 

Question 1 of 5

2. A 35-year-old woman with a history of type 2 diabetes mellitus presents for a routine check-up. Her laboratory tests reveal elevated levels of LDL cholesterol and triglycerides. She mentions that her brother and mother both have high cholesterol and her mother had a stroke in her early 50s. Which of the following best explains the pathogenesis of her lipid abnormalities? 

Question 2 of 5

3. A 30-year-old male is referred to a lipid clinic for management of hypertriglyceridemia. He has a history of acute pancreatitis. His fasting lipid profile reveals normal LDL cholesterol levels but significantly elevated triglycerides. Which of the following is the most likely mechanism for his lipid abnormalities? 

Question 3 of 5

4. A 45-year-old male presents with palmar xanthomas. His lipid profile shows elevated cholesterol and triglycerides. Genetic testing reveals he is homozygous for a mutation in apolipoprotein E. Which of the following is a characteristic finding in this condition? 

Question 4 of 5

5. An 8-year-old child presents with episodes of recurrent abdominal pain and pancreatitis. His parents report that he has been having these symptoms since he was a toddler. On physical examination, eruptive xanthomas are noted on his buttocks and the back of his arms. An image of a similar lesion is shown below. A fasting lipid profile shows extremely elevated triglyceride levels and chylomicronemia. Which of the following genetic defects is most likely responsible for this patient's condition? 

Question 5 of 5


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