Dysbetalipoproteinemia

Screening

There are no known screening recommendations for dysbetalipoprotenemia.

Natural History, Complication, Prognosis

Complications

Dysbetalipoprtenemia can cause the following complications

• Atherosclerotic complications like coronary artery disease
• Pancreatitis
• Stroke
• Peripheral vascular disease
• Intermittent claudication
• Gangrene of the lower extremities

Prognosis

• Patients with dysbetalipoproteinemia have an increased risk for coronary artery disease and peripheral vascular disease.
• With treatment, most people show a significant reduction in lipid levels and thus the complications.

Diagnosis

Diagnosis of dysbetalipoprotenemia is confirmed by the

• Presence of a palmar crease xanthoma, which is a rare diagnostic finding of dysbetalipoproteinemia.
• Lipid profile

Molecular and Genetic testing

• Genotyping apoE. apo E-2 presence causes defective binding of apo E containing lipid particles.
• Ultracentrifugation or nuclear magnetic resonance lipid profiling

History and Symptoms

Symptoms of dysbetalipoprotenemia include

Physical Exam

Physical examination in dybetalipoproteinemia may range from being normal to the presence of these findings

• Xanthoma Striatum Palmare-consisting of yellow streaks in the palmar creases.
• Tuberoeruptive xanthomas on the elbow or tibial tuberosities
• Cutaneous xanthomas
• Tendon xanthomas may also be seen rarely

Laboratory Findings

The laboratory findings consistent with dysbetalipoprotenemia includethe following

	Appearance	VLDL cholesterol	Cholesterol	Triglycerides	Isoelectric focusing
	Floating beta lipoproteins	VLDL cholesterol >0.35	Elevated	Elevated	ApoE-2 homozygote

Treatment

Non-pharmacological therapy

• Dietary therapy with low cholesterol and fat diet has been shown to be effective.

Medical Therapy

Dysbetalipoprotenemia can be treated with the following options if non pharmacological approaches are not effective

• Bile acid binding agents are an option if TG levels are <200mg/dL
• Statins can be used if TG levels are <500mg/dL
• Fibrates and Nicotinic acid can otherwise be used.

Lipid lowering therapies can help decrease the symptoms e.g xanthomas and the complications associated with dysbetalipoprotenemia like the

Genetic counselling

Genetic Counselling can be used to help the patients with dysbetalipoproteinemia and their families.

Prevention

• Screening the family members of those with familial dysbetalipoproteinemia may lead to early detection and treatment.
• Early treatment and avoiding other risk factors for vascular disease (such as smoking) are crucial to preventing early heart attacks, strokes, and blocked blood vessels.

References

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