Familial Dyslipidemias Overview

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Questions and Answers

What is the inheritance pattern of Type I - Hyper-chylo.micronemia?

  • Autosomal Recessive (correct)
  • Autosomal Dominant
  • X-linked Recessive
  • Mitochondrial

Which lipoprotein levels are increased in Type II - Hyper-cholesterolemia?

  • Chylomicrons and VLDL
  • LDL and Triglycerides
  • IDL and HDL
  • LDL and VLDL (correct)

What is a common clinical manifestation of Type I - Hyper-chylo.micronemia?

  • Corneal arcus
  • Tendon xanthomas
  • Eruptive xanthomas (correct)
  • Accelerated atherosclerosis

In which type of familial dyslipidemia is there a deficiency of Apolipoprotein E (ApoE)?

<p>Type III - Dys.beta-lipoproteinemia (C)</p>
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Which type of familial dyslipidemia is associated with acute pancreatitis due to hypertriglyceridemia?

<p>Type IV - Hyper-triglyceridemia (D)</p>
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What is increased in the blood in Type III - Dys.beta-lipoproteinemia?

<p>VLDL and Triglycerides (C)</p>
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Which clinical finding is associated with Type II - Hyper-cholesterolemia?

<p>Eyelid xanthomas (B)</p>
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What defect is present in Type IV - Hyper-triglyceridemia?

<p>Hepatic overproduction of VLDL (D)</p>
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Which type of familial dyslipidemia does NOT increase the risk for atherosclerosis?

<p>Type I - Hyper-chylo.micronemia (D)</p>
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What is the consequence of having very high triglyceride levels (> 1000 mg/dL) in Type IV - Hyper-triglyceridemia?

<p>Acute pancreatitis (D)</p>
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What is the primary defect in Type II - Hyper-cholesterolemia?

<p>Defect in Low-density lipoprotein receptors (C)</p>
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Which condition is associated with severe elevation in triglyceride levels resulting in pancreatitis?

<p>Type IV - Hyper-triglyceridemia (D)</p>
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Which of the following types of familial dyslipidemia can lead to premature atherosclerosis?

<p>Type III - Dys.beta-lipoproteinemia (A), Type II - Hyper-cholesterolemia (B)</p>
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What distinguishes the blood lipid profile in Type III - Dys.beta-lipoproteinemia?

<p>Increased VLDL and triglycerides (B)</p>
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Which clinical finding is unique to Type I - Hyper-chylo.micronemia?

<p>Eruptive xanthomas (D)</p>
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Which autoimmune disease is commonly associated with Type IV - Hyper-triglyceridemia?

<p>Diabetes mellitus (B)</p>
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Which type of familial dyslipidemia is characterized by higher levels of both LDL and VLDL?

<p>Type III - Dys.beta-lipoproteinemia (B)</p>
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What is the clinical implication of having cholesterol levels greater than 700 mg/dL in Homozygotes of Type I?

<p>No increased risk for atherosclerosis (A)</p>
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Which condition is described as having a defect in Hepatic overproduction of VLDL?

<p>Type IV - Hyper-triglyceridemia (B)</p>
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What is a significant clinical finding in patients with Type III - Dys.beta-lipoproteinemia?

<p>Palmar xanthomas (B)</p>
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Which statement accurately describes the pathogenesis of Type I - Hyper-chylo.micronemia?

<p>Defect in lipoprotein lipase or Apolipoprotein C2 (C)</p>
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In which type of familial dyslipidemia is there a significant risk of myocardial infarction before age 20?

<p>Type II - Hyper-cholesterolemia (D)</p>
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What lipid profiles are typically observed in Type IV - Hyper-triglyceridemia?

<p>Increased VLDL and triglycerides, normal LDL (B)</p>
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Which condition is associated with tuberoeruptive xanthomas?

<p>Type III - Dys.beta-lipoproteinemia (B)</p>
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How does Type I - Hyper-chylo.micronemia differ in inheritance from Type IV - Hyper-triglyceridemia?

<p>Type I is autosomal recessive, Type IV is autosomal dominant (C)</p>
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What should be expected in terms of blood lipid profile in individuals with Type IIb - Hyper-cholesterolemia?

<p>Increased LDL and VLDL levels (D)</p>
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Which of the following is true about the blood lipid levels in patients with Type II - Hypercholesterolemia?

<p>Increased LDL cholesterol primarily (B)</p>
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The presence of corneal arcus is primarily associated with which type of familial dyslipidemia?

<p>Type II - Hyper-cholesterolemia (B)</p>
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In Type IV - Hyper-triglyceridemia, what is primarily related to the defect associated with the disorder?

<p>Hepatic overproduction of VLDL (C)</p>
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Flashcards

Type I Hyperchylomicronemia

A genetic disorder where the body can't properly break down fats, leading to high levels of chylomicrons and triglycerides in the blood.

Type II Hypercholesterolemia

A genetic disorder where the body has trouble removing LDL cholesterol from the blood because of a defect in the LDL receptor or apolipoprotein B100.

Type III Dysbetalipoproteinemia

A rare genetic disorder where the body struggles to clear fat particles from the blood, leading to higher than normal amounts of VLDL and triglycerides.

Type IV Hypertriglyceridemia

A genetic condition characterized by excessive production of VLDL by the liver, resulting in high triglycerides in the blood.

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Low-density lipoprotein (LDL)

A type of fat molecule found in the blood, responsible for carrying cholesterol to cells throughout the body.

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Very low-density lipoprotein (VLDL)

A type of fat molecule found in the blood, primarily involved in transporting triglycerides to the body's tissues.

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Apolipoprotein

A fatty substance that helps transport cholesterol in the blood.

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Lipoprotein lipase

The enzyme responsible for breaking down triglycerides in chylomicrons and VLDL.

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Autosomal dominant inheritance

A genetic condition passed from parent to child where a specific gene is altered, leading to a specific trait or health condition.

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Autosomal recessive inheritance

A genetic condition where two copies of a faulty gene are required to develop the condition.

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Familial Dyslipidemias

A group of genetic disorders affecting how the body processes fats (lipids).

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Study Notes

Familial Dyslipidemias

  • Type I (Hyper-chylomicronemia):

    • Inheritance: Autosomal recessive
    • Pathogenesis: Defect in lipoprotein lipase or apolipoprotein C2
    • Blood levels: Increased chylomicrons, cholesterol, and triglycerides. Normal LDL.
    • Clinical features: Eruptive/pruritic xanthomas, hepatosplenomegaly, pancreatitis. Creamy layer in blood serum. Family history often shows heterozygotes (1:500) with cholesterol ~300 mg/dL; homozygotes (very rare) with ≥700 mg/dL.

  • Type II (Hypercholesterolemia):

    • Inheritance: Autosomal dominant
    • Pathogenesis: Defect in low-density lipoprotein (LDL) receptors or apolipoprotein B100
    • Blood levels: Increased LDL, Cholesterol, or VLDL depending on specific subtype (2a/2b).
    • Clinical features: Accelerated atherosclerosis (may cause MI before age 20), tendon (Achilles) xanthomas, eyelid xanthomas, and corneal arcus (lipid deposits in the cornea). Type 2a increases LDL; Type 2b increases both LDL and VLDL.

  • Type III (Dysbetalipoproteinemia):

    • Inheritance: Autosomal recessive
    • Pathogenesis: Defect in apolipoprotein E (ApoE)
    • Blood levels: Increased VLDL cholesterol and LDL
    • Clinical features: Premature atherosclerosis, xanthomas (tuberoeruptive and palmar).

  • Type IV (Hypertriglyceridemia):

    • Inheritance: Autosomal dominant
    • Pathogenesis: Hepatic overproduction of very-low-density lipoprotein (VLDL)
    • Blood levels: Increased VLDL, triglycerides. Normal LDL
    • Clinical features: Acute pancreatitis (if triglyceride levels > 1000 mg/dL), related to insulin resistance (diabetes mellitus).

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