Familial hyperlipoproteinemia type III

A genetic disorder affecting lipid metabolism

Familial hyperlipoproteinemia type III
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Synonyms	Dysbetalipoproteinemia, Broad beta disease
Pronounce	N/A
Specialty	N/A
Symptoms	Xanthomas, atherosclerosis, coronary artery disease
Complications	N/A
Onset
Duration
Types	N/A
Causes	Genetic mutation in Apolipoprotein E
Risks
Diagnosis	Lipid profile, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Diet, statins, fibrates
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Familial hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by the improper metabolism of lipoproteins, leading to elevated levels of cholesterol and triglycerides in the blood. This condition is associated with an increased risk of atherosclerosis and coronary artery disease.

Pathophysiology

Familial hyperlipoproteinemia type III is primarily caused by a genetic mutation in the Apolipoprotein E (ApoE) gene. ApoE is a critical protein involved in the metabolism of lipoproteins, which are complexes that transport lipids through the bloodstream. In individuals with this condition, the mutation leads to the accumulation of intermediate-density lipoproteins (IDL) and chylomicron remnants, resulting in elevated plasma cholesterol and triglyceride levels.

Clinical Presentation

Patients with familial hyperlipoproteinemia type III often present with characteristic skin lesions known as xanthomas, which are deposits of cholesterol-rich material. These can appear as tuberous xanthomas on the elbows and knees or as palmar xanthomas on the creases of the hands. Additionally, patients are at a higher risk for developing atherosclerosis, which can lead to coronary artery disease, peripheral artery disease, and cerebrovascular disease.

Diagnosis

The diagnosis of familial hyperlipoproteinemia type III is typically made through a combination of clinical evaluation, lipid profile analysis, and genetic testing. A lipid profile will often reveal elevated levels of cholesterol and triglycerides, with a characteristic broad beta band on lipoprotein electrophoresis. Genetic testing can confirm the presence of mutations in the ApoE gene, particularly the E2/E2 genotype, which is commonly associated with this condition.

Management

Management of familial hyperlipoproteinemia type III involves lifestyle modifications and pharmacological interventions. Dietary changes, such as reducing saturated fat and cholesterol intake, are recommended. Pharmacological treatment often includes the use of statins and fibrates to lower lipid levels and reduce cardiovascular risk. Regular monitoring of lipid levels and cardiovascular health is essential for managing this condition.

Prognosis

With appropriate management, individuals with familial hyperlipoproteinemia type III can significantly reduce their risk of cardiovascular complications. However, lifelong adherence to treatment and lifestyle modifications is necessary to maintain optimal health outcomes.

Also see

• Hyperlipidemia
• Apolipoprotein E
• Xanthoma
• Coronary artery disease