Podcast
Questions and Answers
What is the inheritance pattern of Type I - Hyper-chylo.micronemia?
What is the inheritance pattern of Type I - Hyper-chylo.micronemia?
Which lipoprotein levels are increased in Type II - Hyper-cholesterolemia?
Which lipoprotein levels are increased in Type II - Hyper-cholesterolemia?
What is a common clinical manifestation of Type I - Hyper-chylo.micronemia?
What is a common clinical manifestation of Type I - Hyper-chylo.micronemia?
In which type of familial dyslipidemia is there a deficiency of Apolipoprotein E (ApoE)?
In which type of familial dyslipidemia is there a deficiency of Apolipoprotein E (ApoE)?
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Which type of familial dyslipidemia is associated with acute pancreatitis due to hypertriglyceridemia?
Which type of familial dyslipidemia is associated with acute pancreatitis due to hypertriglyceridemia?
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What is increased in the blood in Type III - Dys.beta-lipoproteinemia?
What is increased in the blood in Type III - Dys.beta-lipoproteinemia?
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Which clinical finding is associated with Type II - Hyper-cholesterolemia?
Which clinical finding is associated with Type II - Hyper-cholesterolemia?
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What defect is present in Type IV - Hyper-triglyceridemia?
What defect is present in Type IV - Hyper-triglyceridemia?
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Which type of familial dyslipidemia does NOT increase the risk for atherosclerosis?
Which type of familial dyslipidemia does NOT increase the risk for atherosclerosis?
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What is the consequence of having very high triglyceride levels (> 1000 mg/dL) in Type IV - Hyper-triglyceridemia?
What is the consequence of having very high triglyceride levels (> 1000 mg/dL) in Type IV - Hyper-triglyceridemia?
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What is the primary defect in Type II - Hyper-cholesterolemia?
What is the primary defect in Type II - Hyper-cholesterolemia?
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Which condition is associated with severe elevation in triglyceride levels resulting in pancreatitis?
Which condition is associated with severe elevation in triglyceride levels resulting in pancreatitis?
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Which of the following types of familial dyslipidemia can lead to premature atherosclerosis?
Which of the following types of familial dyslipidemia can lead to premature atherosclerosis?
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What distinguishes the blood lipid profile in Type III - Dys.beta-lipoproteinemia?
What distinguishes the blood lipid profile in Type III - Dys.beta-lipoproteinemia?
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Which clinical finding is unique to Type I - Hyper-chylo.micronemia?
Which clinical finding is unique to Type I - Hyper-chylo.micronemia?
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Which autoimmune disease is commonly associated with Type IV - Hyper-triglyceridemia?
Which autoimmune disease is commonly associated with Type IV - Hyper-triglyceridemia?
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Which type of familial dyslipidemia is characterized by higher levels of both LDL and VLDL?
Which type of familial dyslipidemia is characterized by higher levels of both LDL and VLDL?
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What is the clinical implication of having cholesterol levels greater than 700 mg/dL in Homozygotes of Type I?
What is the clinical implication of having cholesterol levels greater than 700 mg/dL in Homozygotes of Type I?
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Which condition is described as having a defect in Hepatic overproduction of VLDL?
Which condition is described as having a defect in Hepatic overproduction of VLDL?
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What is a significant clinical finding in patients with Type III - Dys.beta-lipoproteinemia?
What is a significant clinical finding in patients with Type III - Dys.beta-lipoproteinemia?
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Which statement accurately describes the pathogenesis of Type I - Hyper-chylo.micronemia?
Which statement accurately describes the pathogenesis of Type I - Hyper-chylo.micronemia?
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In which type of familial dyslipidemia is there a significant risk of myocardial infarction before age 20?
In which type of familial dyslipidemia is there a significant risk of myocardial infarction before age 20?
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What lipid profiles are typically observed in Type IV - Hyper-triglyceridemia?
What lipid profiles are typically observed in Type IV - Hyper-triglyceridemia?
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Which condition is associated with tuberoeruptive xanthomas?
Which condition is associated with tuberoeruptive xanthomas?
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How does Type I - Hyper-chylo.micronemia differ in inheritance from Type IV - Hyper-triglyceridemia?
How does Type I - Hyper-chylo.micronemia differ in inheritance from Type IV - Hyper-triglyceridemia?
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What should be expected in terms of blood lipid profile in individuals with Type IIb - Hyper-cholesterolemia?
What should be expected in terms of blood lipid profile in individuals with Type IIb - Hyper-cholesterolemia?
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Which of the following is true about the blood lipid levels in patients with Type II - Hypercholesterolemia?
Which of the following is true about the blood lipid levels in patients with Type II - Hypercholesterolemia?
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The presence of corneal arcus is primarily associated with which type of familial dyslipidemia?
The presence of corneal arcus is primarily associated with which type of familial dyslipidemia?
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In Type IV - Hyper-triglyceridemia, what is primarily related to the defect associated with the disorder?
In Type IV - Hyper-triglyceridemia, what is primarily related to the defect associated with the disorder?
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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.
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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.
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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).
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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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Description
Test your knowledge on Familial Dyslipidemias, including the inheritance patterns, pathogenesis, and clinical features of Type I, II, and III dyslipidemias. Assess your understanding of the key characteristics that differentiate these types and their implications for health.
