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A patient presents with creamy supernatant in their blood sample. Which of the following is the most likely familial dyslipidemia?
A patient presents with creamy supernatant in their blood sample. Which of the following is the most likely familial dyslipidemia?
Which familial dyslipidemia is associated with a defect in apolipoprotein E?
Which familial dyslipidemia is associated with a defect in apolipoprotein E?
A patient with a family history of early heart attacks is found to have tendon xanthomas. Which type of familial dyslipidemia is most likely?
A patient with a family history of early heart attacks is found to have tendon xanthomas. Which type of familial dyslipidemia is most likely?
Which type of familial dyslipidemia is primarily caused by hepatic overproduction of VLDL?
Which type of familial dyslipidemia is primarily caused by hepatic overproduction of VLDL?
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In which familial dyslipidemia is the blood level of low-density lipoprotein (LDL) typically normal?
In which familial dyslipidemia is the blood level of low-density lipoprotein (LDL) typically normal?
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Which familial dyslipidemia is characterized by the presence of eruptive xanthomas and a creamy layer in the blood?
Which familial dyslipidemia is characterized by the presence of eruptive xanthomas and a creamy layer in the blood?
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Which of the following familial dyslipidemias is most likely to cause corneal arcus?
Which of the following familial dyslipidemias is most likely to cause corneal arcus?
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Which disorder is associated with an autosomal recessive pattern of inheritance and leads to tuberoeruptive xanthomas?
Which disorder is associated with an autosomal recessive pattern of inheritance and leads to tuberoeruptive xanthomas?
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What is the primary defect in Type IV - Hyper-triglyceridemia?
What is the primary defect in Type IV - Hyper-triglyceridemia?
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In which type of familial dyslipidemia is there a significant risk of acute pancreatitis due to high triglyceride levels?
In which type of familial dyslipidemia is there a significant risk of acute pancreatitis due to high triglyceride levels?
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A patient with hypercholesterolemia has a cholesterol level of 650 mg/dL. Considering typical presentations of familial hypercholesterolemia, which of the following best describes the patient's likely genetic status?
A patient with hypercholesterolemia has a cholesterol level of 650 mg/dL. Considering typical presentations of familial hypercholesterolemia, which of the following best describes the patient's likely genetic status?
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Which of the following familial dyslipidemias is characterized by both increased chylomicrons and very low-density lipoproteins (VLDL) in the blood?
Which of the following familial dyslipidemias is characterized by both increased chylomicrons and very low-density lipoproteins (VLDL) in the blood?
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A patient presents with a combination of eruptive and tendon xanthomas, and has a history of a myocardial infarction at age 30. Which of the following would be the most accurate characterization of their condition?
A patient presents with a combination of eruptive and tendon xanthomas, and has a history of a myocardial infarction at age 30. Which of the following would be the most accurate characterization of their condition?
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In which of the following familial dyslipidemias would you least expect to find elevated levels of low-density lipoprotein (LDL) in a standard blood test?
In which of the following familial dyslipidemias would you least expect to find elevated levels of low-density lipoprotein (LDL) in a standard blood test?
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A patient presents with acute pancreatitis and a triglyceride level of 1200 mg/dL. Which of the following familial dyslipidemias is most likely responsible for these findings?
A patient presents with acute pancreatitis and a triglyceride level of 1200 mg/dL. Which of the following familial dyslipidemias is most likely responsible for these findings?
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A patient is diagnosed with Type III dysbetalipoproteinemia. Which of the following lipid profiles would be most consistent with this diagnosis?
A patient is diagnosed with Type III dysbetalipoproteinemia. Which of the following lipid profiles would be most consistent with this diagnosis?
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Compared to Type IIa familial hypercholesterolemia, what additional lipoprotein is elevated in a patient with Type IIb familial hypercholesterolemia?
Compared to Type IIa familial hypercholesterolemia, what additional lipoprotein is elevated in a patient with Type IIb familial hypercholesterolemia?
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A patient presents with recurrent pancreatitis and a triglyceride level of 1100 mg/dL. Although they have a family history of hyperlipidemia, they do not have any xanthomas. Which is the most likely underlying cause of their condition?
A patient presents with recurrent pancreatitis and a triglyceride level of 1100 mg/dL. Although they have a family history of hyperlipidemia, they do not have any xanthomas. Which is the most likely underlying cause of their condition?
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A patient is diagnosed with a familial dyslipidemia characterized by a defect in apolipoprotein C2. Which of the following clinical manifestations would be the most specific to this condition?
A patient is diagnosed with a familial dyslipidemia characterized by a defect in apolipoprotein C2. Which of the following clinical manifestations would be the most specific to this condition?
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A patient is found to have a blood cholesterol level of 800 mg/dL and has a history of myocardial infarction at a young age. What is most likely to contribute to this specific presentation?
A patient is found to have a blood cholesterol level of 800 mg/dL and has a history of myocardial infarction at a young age. What is most likely to contribute to this specific presentation?
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In Type III dysbetalipoproteinemia, which apolipoprotein is primarily defective?
In Type III dysbetalipoproteinemia, which apolipoprotein is primarily defective?
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A patient is diagnosed with Type IIa hypercholesterolemia. Which of the following would be the most characteristic laboratory finding?
A patient is diagnosed with Type IIa hypercholesterolemia. Which of the following would be the most characteristic laboratory finding?
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Which familial dyslipidemia is most likely associated with a significantly increased risk of acute pancreatitis due to extremely elevated triglyceride levels?
Which familial dyslipidemia is most likely associated with a significantly increased risk of acute pancreatitis due to extremely elevated triglyceride levels?
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A patient presents with premature atherosclerosis, tuberoeruptive xanthomas, and palmar xanthomas. Which familial dyslipidemia is the most likely cause?
A patient presents with premature atherosclerosis, tuberoeruptive xanthomas, and palmar xanthomas. Which familial dyslipidemia is the most likely cause?
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Which of the following is a key difference between Type I and Type IV familial dyslipidemias?
Which of the following is a key difference between Type I and Type IV familial dyslipidemias?
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A patient presents with a family history of early heart attacks, elevated cholesterol levels, and corneal arcus. Which of the following is the most likely diagnosis?
A patient presents with a family history of early heart attacks, elevated cholesterol levels, and corneal arcus. Which of the following is the most likely diagnosis?
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A patient has a blood sample with a creamy layer on top. Which familial dyslipidemia is most likely present?
A patient has a blood sample with a creamy layer on top. Which familial dyslipidemia is most likely present?
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Which familial dyslipidemia is associated with a significantly increased risk of acute pancreatitis due to high triglyceride levels?
Which familial dyslipidemia is associated with a significantly increased risk of acute pancreatitis due to high triglyceride levels?
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A patient presents with tuberoeruptive xanthomas and palmar xanthomas. Which familial dyslipidemia is most likely?
A patient presents with tuberoeruptive xanthomas and palmar xanthomas. Which familial dyslipidemia is most likely?
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What is the primary defect in Type II - Hypercholesterolemia (familial hypercholesterolemia)?
What is the primary defect in Type II - Hypercholesterolemia (familial hypercholesterolemia)?
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Study Notes
Familial Dyslipidemias
-
Type I (Hyper-chylo.micronemia):
- Inheritance: Autosomal recessive
- Pathogenesis: Defect in lipoprotein lipase (enzyme) or apolipoprotein C2
- Blood levels: Chylomicrons and triglycerides are increased; cholesterol is normal or low-density lipoprotein (LDL) is normal
- Clinical presentation: Eruptive/pruritic xanthomas (no increased risk of atherosclerosis); hepatosplenomegaly; pancreatitis; creamy layer in supernatant (blood);
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Type II (Hyper-cholesterolemia):
- Inheritance: Autosomal dominant
- Pathogenesis: Defect in low-density lipoprotein (LDL) receptors or apolipoprotein B100
- Blood levels: Type 2a: Low-density lipoprotein (LDL) and high cholesterol; Type 2b: very low-density lipoprotein (VLDL);
- Clinical presentation: Premature atherosclerosis; corneal arcus; tendon xanthomas; eyelid xanthomas; Possible accelerated atherosclerosis and myocardial infarction (MI) before age 20 in some cases.
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Type III (Dys.beta-lipoproteinemia):
- Inheritance: Autosomal recessive
- Pathogenesis: Defect in apolipoprotein E (ApoE)
- Blood levels: very low-density lipoprotein (VLDL) is increased
- Clinical presentation: Premature atherosclerosis; xanthomas (tuberoeruptive and palmar types);
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Type IV (Hyper-triglyceridemia):
- Inheritance: Autosomal recessive
- Pathogenesis: Hepatic overproduction of very low-density lipoprotein (VLDL)
- Blood levels: Very low-density lipoprotein (VLDL) and triglycerides are increased; cholesterol is normal or low-density lipoprotein (LDL) is normal
- Clinical presentation: Related to insulin resistance (diabetes mellitus); acute pancreatitis (hypertriglyceridemia > 1000 mg/dL); Heterozygotes typically have cholesterol levels around 300 mg/dL, while homozygotes, which are very rare, have extremely high levels (≥ 700 mg/dL).
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Description
Test your knowledge on the types of familial dyslipidemias, their inheritance patterns, pathogenesis, and clinical presentations. This quiz covers Type I, Type II, and Type III dyslipidemias, helping you understand vital concepts related to lipid metabolism disorders.
