Familial Dyslipidemias Overview

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Questions and Answers

A patient presents with creamy supernatant in their blood sample. Which of the following is the most likely familial dyslipidemia?

  • Type IV Hypertriglyceridemia
  • Type II Hypercholesterolemia
  • Type I Hyperchylomicronemia (correct)
  • Type III Dysbetalipoproteinemia

Which familial dyslipidemia is associated with a defect in apolipoprotein E?

  • Type III Dysbetalipoproteinemia (correct)
  • Type IV Hypertriglyceridemia
  • Type I Hyperchylomicronemia
  • Type II Hypercholesterolemia

A patient with a family history of early heart attacks is found to have tendon xanthomas. Which type of familial dyslipidemia is most likely?

  • Type III Dysbetalipoproteinemia
  • Type IV Hypertriglyceridemia
  • Type I Hyperchylomicronemia
  • Type II Hypercholesterolemia (correct)

Which type of familial dyslipidemia is primarily caused by hepatic overproduction of VLDL?

<p>Type IV Hypertriglyceridemia (C)</p> Signup and view all the answers

In which familial dyslipidemia is the blood level of low-density lipoprotein (LDL) typically normal?

<p>Type I Hyperchylomicronemia (C)</p> Signup and view all the answers

Which familial dyslipidemia is characterized by the presence of eruptive xanthomas and a creamy layer in the blood?

<p>Type I - Hyper-chylo.micronemia (C)</p> Signup and view all the answers

Which of the following familial dyslipidemias is most likely to cause corneal arcus?

<p>Type II - Hyper-cholesterolemia (B)</p> Signup and view all the answers

Which disorder is associated with an autosomal recessive pattern of inheritance and leads to tuberoeruptive xanthomas?

<p>Type III - Dys.beta-lipoproteinemia (A)</p> Signup and view all the answers

What is the primary defect in Type IV - Hyper-triglyceridemia?

<p>Defect in hepatic overproduction of VLDL (A)</p> Signup and view all the answers

In which type of familial dyslipidemia is there a significant risk of acute pancreatitis due to high triglyceride levels?

<p>Type IV - Hyper-triglyceridemia (A)</p> Signup and view all the answers

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?

<p>Homozygous for the LDL receptor defect with severe elevations expected. (A)</p> Signup and view all the answers

Which of the following familial dyslipidemias is characterized by both increased chylomicrons and very low-density lipoproteins (VLDL) in the blood?

<p>Type III - Dys.beta-lipoproteinemia (C)</p> Signup and view all the answers

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?

<p>Type II - Hyper-cholesterolemia due to the the presence of tendon xanthomas and premature MI. (C)</p> Signup and view all the answers

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?

<p>Type I - Hyper-chylo.micronemia (C)</p> Signup and view all the answers

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?

<p>Type IV - Hyper-triglyceridemia due to the high triglyceride levels causing pancreatitis. (C)</p> Signup and view all the answers

A patient is diagnosed with Type III dysbetalipoproteinemia. Which of the following lipid profiles would be most consistent with this diagnosis?

<p>Elevated VLDL and chylomicrons, normal LDL (A)</p> Signup and view all the answers

Compared to Type IIa familial hypercholesterolemia, what additional lipoprotein is elevated in a patient with Type IIb familial hypercholesterolemia?

<p>Very low-density lipoprotein (VLDL) (B)</p> Signup and view all the answers

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?

<p>Hepatic overproduction of VLDL causing Familial Type IV hypertriglyceridemia (B)</p> Signup and view all the answers

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?

<p>Eruptive xanthomas and creamy supernatant in blood (B)</p> Signup and view all the answers

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?

<p>Homozygous autosomal dominant defect in the LDL receptor (D)</p> Signup and view all the answers

In Type III dysbetalipoproteinemia, which apolipoprotein is primarily defective?

<p>Apolipoprotein E (A)</p> Signup and view all the answers

A patient is diagnosed with Type IIa hypercholesterolemia. Which of the following would be the most characteristic laboratory finding?

<p>Elevated levels of LDL with normal triglycerides (A)</p> Signup and view all the answers

Which familial dyslipidemia is most likely associated with a significantly increased risk of acute pancreatitis due to extremely elevated triglyceride levels?

<p>Type IV - Hyper-triglyceridemia (C)</p> Signup and view all the answers

A patient presents with premature atherosclerosis, tuberoeruptive xanthomas, and palmar xanthomas. Which familial dyslipidemia is the most likely cause?

<p>Type III - Dys.beta-lipoproteinemia (D)</p> Signup and view all the answers

Which of the following is a key difference between Type I and Type IV familial dyslipidemias?

<p>Type I primarily elevates chylomicrons, whereas type IV elevates VLDL. (D)</p> Signup and view all the answers

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?

<p>Type II - Hypercholesterolemia (D)</p> Signup and view all the answers

A patient has a blood sample with a creamy layer on top. Which familial dyslipidemia is most likely present?

<p>Type I - Hyper-chylomicronemia (A)</p> Signup and view all the answers

Which familial dyslipidemia is associated with a significantly increased risk of acute pancreatitis due to high triglyceride levels?

<p>Type IV - Hypertriglyceridemia (D)</p> Signup and view all the answers

A patient presents with tuberoeruptive xanthomas and palmar xanthomas. Which familial dyslipidemia is most likely?

<p>Type III - Dysbetalipoproteinemia (D)</p> Signup and view all the answers

What is the primary defect in Type II - Hypercholesterolemia (familial hypercholesterolemia)?

<p>Defective LDL receptors or apolipoprotein B100 (B)</p> Signup and view all the answers

Flashcards

Type I Familial Dyslipidemia (Hyperchylomicronemia)

An inherited condition where the body cannot break down chylomicrons, leading to high levels of triglycerides and cholesterol in the blood, a creamy layer in blood, and potential for pancreatitis.

Type II Familial Dyslipidemia (Hypercholesterolemia)

A common inherited disorder that affects cholesterol levels, caused by a deficiency in LDL receptors or ApoB100, leading to high cholesterol levels in blood and accelerated atherosclerosis.

Type III Familial Dyslipidemia (Dysbetalipoproteinemia)

An inherited disorder characterized by a deficiency in Apolipoprotein E (ApoE), resulting in high levels of very low-density lipoprotein (VLDL), chylomicrons, and sometimes premature atherosclerosis.

Type IV Familial Dyslipidemia (Hypertriglyceridemia)

An inherited disorder marked by excessive production of VLDL by the liver, leading to high levels of triglycerides in the blood, and often linked to insulin resistance and pancreatitis.

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Familial Dyslipidemias

A group of inherited disorders that affect the levels of lipids in the blood, specifically cholesterol and triglycerides, leading to increased risk of heart disease.

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What are Familial Dyslipidemias?

A group of inherited disorders affecting the levels of lipids (fats) in the blood, specifically cholesterol and triglycerides. They are often linked to an increased risk of heart disease.

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What is the cause of Type I familial dyslipidemia?

A deficiency in the enzyme lipoprotein lipase (LPL) or apolipoprotein C2, preventing the breakdown of chylomicrons. This leads to a build-up of triglycerides and cholesterol in the blood, causing a creamy layer in the blood and increased risk of pancreatitis.

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What is the underlying cause of Type II familial dyslipidemia?

A deficiency in LDL receptors or apolipoprotein B100, preventing the removal of LDL cholesterol from the bloodstream. This leads to high levels of LDL cholesterol and an increased risk of atherosclerosis, heart attacks, and other cardiovascular complications.

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What is the genetic abnormality in Type III familial dyslipidemia?

A deficiency in apolipoprotein E (ApoE), leading to a build-up of very low-density lipoprotein (VLDL) and chylomicrons in the bloodstream. These abnormal lipids increase the risk of atherosclerosis and heart disease.

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What is the primary cause of Type IV familial dyslipidemia?

An excess production of very low-density lipoprotein (VLDL) by the liver, leading to high levels of triglycerides in the blood. This is often associated with insulin resistance and can increase the risk of pancreatitis.

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What is Type I Familial Dyslipidemia?

A genetic disorder that affects how the body breaks down fats (lipids). It's characterized by high levels of triglycerides and cholesterol in the blood, a creamy layer in the blood, and an increased risk of pancreatitis.

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What is Type II Familial Dyslipidemia?

A common inherited disorder that causes high cholesterol levels in the blood due to a problem with removing LDL cholesterol. It significantly increases the risk of heart disease and related complications.

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What is Type III Familial Dyslipidemia?

A genetic disorder caused by a deficiency in ApoE, a protein that helps remove fats from the blood. It leads to high levels of VLDL and chylomicrons, which also contribute to heart disease.

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What is Type IV Familial Dyslipidemia?

A genetic condition characterized by high levels of triglycerides in the blood due to excessive production of VLDL by the liver. It is commonly associated with insulin resistance and pancreatitis.

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What causes Type I Familial Dyslipidemia?

This type is caused by a defect in the enzyme lipoprotein lipase (LPL) or apolipoprotein C2, leading to a build-up of chylomicrons and triglycerides in the blood.

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What causes Type III Familial Dyslipidemia?

Apolipoprotein E (ApoE) deficiency leads to accumulation of VLDL and chylomicrons in the blood, increasing the chances of atherosclerosis.

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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);

  • 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.

  • 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);

  • 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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