WF- 1. Hypercholesterolemia - clinic: symptoms, findings (copy)

What is hypercholesterolemia characterized by?

Hypercholesterolemia, characterized by elevated cholesterol levels in the blood, is a type of hyperlipidemia, which involves increased blood lipids, including total cholesterol, LDL (low-density lipoprotein), and triglycerides.

How is hypercholesterolemia related to hyperlipidemia?

Hypercholesterolemia, characterized by elevated cholesterol levels in the blood, is a type of hyperlipidemia, which involves increased blood lipids, including total cholesterol, LDL (low-density lipoprotein), and triglycerides.

At what level of total cholesterol is a diagnosis of hypercholesterolemia typically made?

A diagnosis is typically made when total cholesterol levels exceed 5.2 mmol/L. This condition falls under the broader category of lipid disorders, which affect the body's metabolism and are associated with a heightened risk of cardiovascular diseases.

What are some critical functions of cholesterol in the body?

Cholesterol serves critical functions in the body, including being a fundamental component of cell membranes, and acting as a precursor for steroid hormones and bile acids.

How is cholesterol transported through the bloodstream?

However, because cholesterol cannot dissolve in water, it must be transported through the bloodstream within lipoproteins, which are categorized by their density into VLDL (very-low-density lipoprotein), IDL (intermediate-density lipoprotein), LDL, and HDL (high-density lipoprotein).

What are the two main categories of causes for hypercholesterolemia?

The causes of hypercholesterolemia can be either congenital or acquired. Congenital forms are less common and include conditions like:

What are the four types of congenital hypercholesterolemia mentioned in the paragraph?

Type I Hyperchylomicronemia + Type IIa Familial Hypercholesterolemia + Type III Familial Dysbetalipoproteinemia + Type IV Familial Hypertriglyceridemia

What is Type I Hyperchylomicronemia characterized by?

• Type I Hyperchylomicronemia: An autosomal recessive condition that leads to high triglyceride levels but is not associated with an increased risk of atherosclerosis. Symptoms can include eruptive xanthomas, pancreatitis, and hepatosplenomegaly.

What is Type IIa Familial Hypercholesterolemia caused by?

• Type IIa Familial Hypercholesterolemia: An autosomal dominant condition resulting from mutations in the LDL receptor, leading to elevated LDL levels and an early onset of atherosclerotic cardiovascular disease.

What is Type III Familial Dysbetalipoproteinemia caused by?

• Type III Familial Dysbetalipoproteinemia: An autosomal recessive condition caused by defective ApoE, leading to elevated cholesterol and triglycerides and an increased risk of cardiovascular disease.

What is the significant risk associated with Type IV Familial Hypertriglyceridemia?

• Type IV Familial Hypertriglyceridemia: An autosomal dominant condition that significantly increases the risk of acute pancreatitis.

What are some acquired causes of hypercholesterolemia?

Acquired causes are more prevalent and include factors like obesity, diabetes mellitus, physical inactivity, alcoholism, hypothyroidism, nephrotic syndrome, cholestatic liver disease, Cushing's disease, and certain medications such as oral contraceptive pills, high-dose diuretics, and metoprolol.

How is hypercholesterolemia managed?

Managing hypercholesterolemia involves addressing underlying causes, whether lifestyle-related or associated with other health conditions, alongside direct treatments aimed at lowering lipid levels.

What is the Frederickson classification?

The Frederickson classification, also known as the Fredrickson-Levy-Lees classification, organizes dyslipidemias into types based on the pattern of lipoproteins elevated in the plasma.

Why is the Frederickson classification important?

This system helps in understanding the genetic basis of lipid disorders and their clinical implications, especially regarding the risk of atherosclerosis and pancreatitis. Here's a summary of the classification:

Dyslipidemia classification according to Frederickson

Type 1 – Familial Hyperchylomicronemia (Autosomal Recessive)

Type 2a – Familial Hypercholesterolemia (Autosomal Dominant)

Type 2b – Familial Combined Hyperlipidemia (Autosomal Dominant)

Type 3 – Familial Dysbetalipoproteinemia (Autosomal Recessive)

Type 4 – Familial Hypertriglyceridemia (Autosomal Dominant)

What are the clinical manifestations of Type 1 Familial Hyperchylomicronemia?

• Clinical Manifestations: Eruptive xanthomas, hepatosplenomegaly, recurrent episodes of acute pancreatitis and/or abdominal pain, lipemia retinalis, bile duct stenosis.

What is the lipoprotein defect associated with Type 1 Familial Hyperchylomicronemia?

• Lipoprotein Defect: Chylomicrons.

Is the total cholesterol in Type 1 Familial Hyperchylomicronemia normal or increased?

• Total Cholesterol: Normal to mildly increased.

Are the total triglycerides in Type 1 Familial Hyperchylomicronemia normal or increased?

• Total Triglycerides: Very increased.

What is observed in the overnight plasma of individuals with Type 1 Familial Hyperchylomicronemia?

• Overnight Plasma: Creamy top layer.

What is the risk for atherosclerosis in individuals with Type 1 Familial Hyperchylomicronemia?

• Risk for Atherosclerosis: None.

What are the clinical manifestations of Type 2a Familial Hypercholesterolemia?

• Clinical Manifestations: Premature atherosclerosis, arcus lipoides, tuberous/tendon xanthomas.

What is the lipoprotein defect associated with Type 2a Familial Hypercholesterolemia?

• Lipoprotein Defect: LDL.

How does the total cholesterol levels appear in Type 2a Familial Hypercholesterolemia?

• Total Cholesterol: Very increased.

What is the status of total triglycerides in Type 2a Familial Hypercholesterolemia?

• Total Triglycerides: Normal.

How does the overnight plasma appear in Type 2a Familial Hypercholesterolemia?

• Overnight Plasma: Clear.

What are the clinical manifestations of Type 2b Familial Combined Hyperlipidemia?

• Clinical Manifestations: Premature atherosclerosis, arcus lipoides, xanthelasma.

What lipoprotein defect is associated with Type 2b Familial Combined Hyperlipidemia?

• Lipoprotein Defect: LDL and VLDL.

How is the total cholesterol level affected in Type 2b Familial Combined Hyperlipidemia?

• Total Cholesterol: Very increased.

What happens to the total triglycerides in Type 2b Familial Combined Hyperlipidemia?

• Total Triglycerides: Increased.

What is the appearance of overnight plasma in Type 2b Familial Combined Hyperlipidemia?

• Overnight Plasma: Clear.

What are the clinical manifestations of Type 3 Familial Dysbetalipoproteinemia?

• Clinical Manifestations: Premature atherosclerosis, palmar and tuberoeruptive xanthomas.

What lipoprotein defect is associated with Type 3 Familial Dysbetalipoproteinemia?

• Lipoprotein Defect: Remnants of VLDL and chylomicrons.

Is the total cholesterol increased or decreased in Type 3 Familial Dysbetalipoproteinemia?

• Total Cholesterol: Increased.

Are the total triglycerides increased or decreased in Type 3 Familial Dysbetalipoproteinemia?

• Total Triglycerides: Increased.

How does the overnight plasma appear in Type 3 Familial Dysbetalipoproteinemia?

• Overnight Plasma: Turbid.

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What is the clinical manifestation of Type 4 Familial Hypertriglyceridemia?

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Premature atherosclerosis, tuberoeruptive xanthomas, acute pancreatitis, features of hyperglycemia.

What lipoprotein defect is associated with Type 4 Familial Hypertriglyceridemia?

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VLDL.

What is the typical range for Total Cholesterol in Type 4 Familial Hypertriglyceridemia?

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Normal to mildly increased.

What is the characteristic feature of Total Triglycerides in Type 4 Familial Hypertriglyceridemia?

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Very increased.

How does the overnight plasma appear in Type 4 Familial Hypertriglyceridemia?

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Turbid.

What is the Frederickson classification?

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How does dyslipidemia contribute to the risk of cardiovascular diseases?

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What are xanthomas?

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How do xanthomas form?

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What are Eruptive Xanthomas characterized by? Yellow papules with an erythematous border, found on the buttocks, back, and extensor surfaces of the extremities, associated with hypertriglyceridemia or lipoprotein lipase deficiency.

Where are Tendinous Xanthomas commonly found? Firm nodules in tendons, often in the extensor tendons of hands and Achilles tendon, seen in severe hypercholesterolemia with elevated LDL levels.

What do Palmar Xanthomas present as? Yellow plaques on the palms, associated with type III hyperlipoproteinemia and increased VLDL.

What are Xanthelasmas and where are they typically found? Nodular lipid deposits around the eyelids, typically bilateral yellow flat plaques on the upper eyelids (nasal side), associated with various conditions like hypercholesterolemia, hyperapobetalipoproteinemia, and elevated LDL levels.

What is Lipemia Retinalis?

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What is Arcus Lipoides Corneae?

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What is Fatty Liver (Hepatic Steatosis)?

Excess fat accumulation in the liver cells, often associated with obesity, insulin resistance, and high triglyceride levels.

How can severe hypertriglyceridemia lead to acute pancreatitis?

Severe hypertriglyceridemia, typically with levels greater than 11.3 mmol/L, can lead to acute pancreatitis due to the toxic effects of high triglyceride levels on the pancreatic tissue.

What is the definition of Coronary Heart Disease? Narrowing of the coronary arteries supplying blood to the heart, causing angina and increasing the risk of myocardial infarction.

What is a Myocardial Infarction commonly known as? A heart attack, happening when blood flow to a part of the heart is blocked, leading to heart muscle damage or death.

What happens during a Stroke? The blood supply to part of the brain is interrupted, resulting in brain damage.

What is Peripheral Arterial Disease?

Atherosclerosis affecting the legs, causing pain and difficulty walking.

What is Carotid Artery Stenosis?

Narrowing of the carotid arteries, which can lead to reduced blood flow to the brain and stroke.

What is Cholesterol Embolization Syndrome?

Small pieces of cholesterol plaques break off and block small blood vessels, leading to tissue damage.

What is dyslipidemia management focused on? Lifestyle changes and medications aimed at lowering lipid levels to reduce the risk of complications.

What severe cardiovascular diseases can atherosclerosis progression lead to? Coronary heart disease, myocardial infarction, stroke, peripheral arterial disease, carotid artery stenosis, and cholesterol embolization syndrome.

What is the importance of diagnostics for lipid disorders in cardiovascular risk assessment and management?

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Diagnostics for lipid disorders are essential for cardiovascular risk assessment and management.

What does the diagnostic approach for lipid disorders typically involve?

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The diagnostic approach involves initial screening and more detailed investigations to confirm the diagnosis and identify underlying causes or associated risks.

What is the key to initial screening for lipid disorders during routine health examinations?

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A blood lipid profile that includes measurements of total cholesterol, LDL, HDL, and triglycerides.

What is recommended for an accurate diagnosis of dyslipidemia?

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What does a fasting lipid profile measure?

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What LDL level is considered for a diagnosis of dyslipidemia?

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LDL levels greater than 3.4 mmol/L.

What HDL level is considered for a diagnosis of dyslipidemia?

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HDL levels less than 1 mmol/L.

How many separate occasions with pathological values are required for confirmation of dyslipidemia diagnosis?

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Two separate occasions.

What test is used to screen for diabetes mellitus?

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Why is the TSH level checked in lipid level assessment?

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Why are Liver Function Tests included in identifying underlying causes of lipid disorders?

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What is the purpose of conducting a Urine Analysis in lipid level assessment?

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What are the lipid parameters used for assessment?