hyperlipoproteinemia type III

Hyperlipoproteinemia Type III: A Rare Genetic Disorder

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or familial dysbetalipoproteinemia (FD), is a rare genetic disorder characterized by the impaired metabolism of fats (lipids) in the body. This leads to the accumulation of triglyceride-rich remnant lipoproteins in the plasma, resulting in high levels of cholesterol and triglycerides.

Key Features:

• High levels of cholesterol and triglycerides: Type III hyperlipoproteinemia is characterized by elevated concentrations of both plasma cholesterol and triglyceride.
• Accumulation of remnant lipoproteins: The disorder leads to the accumulation of remnants of triglyceride-rich lipoproteins, such as chylomicrons and very-low-density lipoproteins (VLDL).
• Genetic origin: Most patients with type III hyperlipoproteinemia are homozygous for a mutant form of apolipoprotein E (apo E-2), which binds poorly to low-density lipoprotein receptors.
• High risk of premature atherosclerosis and cardiovascular disease: Type III hyperlipoproteinemia is associated with a high risk of developing premature coronary heart disease, restricted blood flow to the legs, and other cardiovascular complications.

Symptoms:

• Fatty yellow bumps on the skin (xanthomas): Patients may develop multiple small, yellow skin growths due to the accumulation of lipids.
• Premature coronary heart disease: Type III hyperlipoproteinemia increases the risk of developing premature coronary heart disease.

References:

• [1] Zannis and Breslow (1980) - The majority of patients with type III hyperlipoproteinemia have homozygous genotype ε2/ε2.
• [3] Summary by ... - Type III hyperlipoproteinemia is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride-rich lipoproteins (TGRL), VLDL, and chylomicrons (CM).
• [14] The primary molecular defect in most patients with type III hyperlipoproteinemia is the presence of a mutant form of apo E (apo E-2) that differs from normal apo E (apo E-3) by only a single amino acid substitution.
• [15] Type III can be distinguished from mixed hyperlipidemia based on a simple diagnostic algorithm, which involves total cholesterol and triglyceride levels.

Common Signs and Symptoms of Hyperlipoproteinemia Type III

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty materials known as lipids, specifically cholesterol and triglycerides. This results in the abnormal accumulation of lipids in the body.

Possible Symptoms:

• Yellow, crusty, fatty deposits on the skin called xanthomas, particularly on the palms of the hands [3]
• Enlargement of the spleen or liver [3]
• Pancreatitis (type 1) and abdominal pain (types 1 and 5) [2]
• Chest pain (angina) or other signs of coronary artery disease may be present at a young age [7]

Other Possible Signs:

• Cramping of one or both calves when walking
• Sores on the skin
• Shortness of breath
• Excessive sweating
• Cough
• Diarrhea

Important Note: Some individuals with hyperlipoproteinemia type III may not show any symptoms (asymptomatic) [1]. Symptoms often do not appear unless additional conditions are present such as diabetes, obesity, or hypothyroidism.

References:

[1] Signs & Symptoms. The symptoms of hyperlipoproteinemia type III may vary from person to person. Some individuals may not show any symptoms (asymptomatic). Symptoms of hyperlipoproteinemia type III often do not appear unless additional conditions are present such as diabetes, obesity, or hypothyroidism.

[2] Other signs and symptoms of hyperlipoproteinemia include: pancreatitis (type 1) abdominal pain (types 1 and 5) enlarged liver or spleen (type 1)

[3] For example, type III hyperlipoproteinemia can cause: yellow, crusty, fatty deposits on the skin called xanthomas , particularly on the palms of the hands enlargement of the spleen or liver

[7] Symptoms · Chest pain (angina) or other signs of coronary artery disease may be present at a young age · Cramping of one or both calves when walking · Sores on the ...

Diagnostic Tests for Hyperlipoproteinemia Type III

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or familial dysbetalipoproteinemia (FD), is a genetic lipid disorder characterized by increased accumulation of triglyceride-rich remnant lipoproteins. Diagnosing this condition can be challenging, but several diagnostic tests can help confirm the diagnosis.

• Genetic Testing: Genetic testing for the APOE gene can confirm the presence of two e2 versions in individuals experiencing symptoms such as xanthomas, high cholesterol, and triglycerides [1].
• Blood Test: A doctor can diagnose hyperlipoproteinemia with a blood test, which may include measuring lipid profiles, thyroid function, glucose, protein in the urine, liver function, and uric acid levels [2].
• Specialized Blood Test: A specialized blood test is used to diagnose Hyperlipoproteinaemia Type 3. This test measures the ratio of apo B to total cholesterol and/or triglycerides in serum [6][8].
• Lipid Profile: Measuring plasma cholesterol, TG, and ApoB can help diagnose type III hyperlipoproteinemia [4][5][12].
• Apo E Genotyping: A combination of apo E genotyping and examining the ratio of apo B to total cholesterol and/or triglycerides in serum can help establish the diagnosis [6].

Confirmatory Tests

If the initial tests suggest type III hyperlipoproteinemia, confirmatory tests such as lipoprotein ultracentrifugation or electrophoresis may be performed to confirm the diagnosis [3][15].

Effective Drug Treatments for Hyperlipoproteinemia Type III

Hyperlipoproteinemia Type III, also known as Familial Dysbetalipoproteinemia, is a rare genetic disorder characterized by high levels of cholesterol and triglycerides in the blood. The condition increases the risk of premature atherosclerosis and cardiovascular disease.

Recommended Drug Treatments:

According to various studies and medical sources [3][4][5], the following drugs have shown effectiveness in reducing lipid levels and treating hyperlipoproteinemia Type III:

• Fibrates: Clofibrate, Fenofibrate, and Gemfibrozil have been found to be effective in lowering triglyceride and LDL cholesterol levels [2][6].
• Statin Drugs: Statins such as Atorvastatin, Pravastatin, and Rosuvastatin have also been shown to be effective in reducing LDL cholesterol levels [9][10].
• Nicotinic Acid: Nicotinic acid has been found to be effective in lowering triglyceride and LDL cholesterol levels [3].

Other Considerations:

It's essential to note that the treatment of hyperlipoproteinemia Type III may vary depending on individual cases, and a comprehensive approach including diet and lifestyle modifications is often recommended [1][2]. Additionally, cardiovascular risk is high in this condition, making aggressive lipid-lowering therapy necessary.

References:

[1] Drugs.com Mobile App. Access drug & treatment information, identify pills, check interactions and set up personal medication records. [2] Pravastatin Completed Phase 3 Trials for Hyperlipoproteinemia Type III Treatment [3] Guyton JR. Treatment of type III hyperlipoproteinemia. Am Heart J. 1999 Jul;138(1 Pt 1):17-8. [4] Cardiovascular risk is so high in type III hyperlipoproteinemia that type III, just like heterozygous familial hypercholesterolemia (FH) 2, is a treat-on-diagnosis disorder (1– 3). [5] Hyperlipoproteinemia Type III / drug therapy* [6] Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Subjects With A Genetic Cholesterol Disorder. [7] NCT00145431.

Differential Diagnosis of Hyperlipoproteinemia Type III

Hyperlipoproteinemia type III, also known as familial dysbetalipoproteinemia (FD), is a genetic lipid disorder characterized by increased accumulation of triglyceride-rich remnant lipoproteins. The differential diagnosis of this condition involves distinguishing it from other similar disorders.

Key Features to Consider:

• Hypercholesterolemia and Hypertriglyceridemia: Type III hyperlipoproteinemia is characterized by high levels of cholesterol and triglycerides in the blood.
• Presence of β-VLDL: The presence of beta-VLDL (very-low-density lipoprotein) particles is a key feature of type III hyperlipoproteinemia.
• Xanthomas: Fatty yellow bumps on the skin, known as xanthomas, are a common sign of this condition.

Differential Diagnoses:

• Mixed Hyperlipidemia: This condition involves high levels of both cholesterol and triglycerides, but it can be distinguished from type III hyperlipoproteinemia based on a simple diagnostic algorithm.
• Familial Dysbetalipoproteinemia (FD): Also known as dysbetalipoproteinemia, this is another genetic lipid disorder characterized by impaired remnant clearance.
• Broad β Disease: This term refers to the accumulation of triglyceride-rich remnant lipoproteins due to impaired clearance.

Other Conditions to Consider:

• Dysbetahyperlipoproteinemia (Type III Hyperlipidemia): This is a rare genetic condition that causes high cholesterol and triglycerides.
• Familial Ligand Defective ApoB-100: This is a genetic disorder that affects the apolipoprotein B-100 protein.

Diagnostic Algorithm:

A simple diagnostic algorithm can be used to distinguish type III hyperlipoproteinemia from other conditions. This involves analyzing plasma total cholesterol, triglyceride, and apolipoprotein (Apo) B levels.

References: * [12] of type III hyperlipoproteinemia. * Type III hyperlipidemia or dysbetalipoproteinemia is one of the classical atherogenic dyslipoproteinemias. 1–4 * Objective: Our objective was to develop a simple algorithm that could be applied in routine clinical practice to diagnose type III hyperlipoproteinemia based on plasma total cholesterol, triglyceride and apolipoprotein (Apo) B. Methods: Analysis of plasma lipid, lipoprotein lipid, and apolipoprotein data from 1771 patients in a tertiary care lipid clinic, from whom all data had been collected ...