Hypolipoproteinemia

Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood.

Cause

Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, familial hypobetalipoproteinemia, and chylomicron retention disease.

Signs and symptoms

Signs and symptoms in the the genetic or familial form of hypolipoproteinemia vary. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. Other forms result in absent or near absent LDL levels and can cause serious symptoms in infancy and early childhood.

The signs and symptoms associated with familial hypolipoproteinemia vary depending on the underlying cause. While some individuals may have mild signs or symptoms or no detectable associated health issues, others may have serious symptoms in infancy and early childhood. To view more detailed information on the associated signs and symptoms for the different genetic causes click on the links below:

• Abetalipoproteinemia
• Familial hypobetalipoproteinemia
• Chylomicron retention disease

Diagnosis

It can be diagnosed via blood study that identifies fat particles. The patient must fast overnight to prevent interference from fat in the blood due to food intake. The criteria for this (without the involvement of cholesterol-lowering drugs) are total cholesterol levels below 120 mg/dL and LDL cholesterol levels under 50 mg/dL.

Treatment

• Treatment for hypoproteinemia varies depending on the underlying cause and signs and symptoms present in each individual.
• Vitamin E supplements have shown to help children with the deficiency.

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NIH genetic and rare disease info

• NIH info on Hypolipoproteinemia

Hypolipoproteinemia is a rare disease.

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