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Genetic and Rare Diseases Information Center (GARD)


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Your Question

Hypolipoproteinemia runs in my family. I can't find much information on this topic. I'd like to know if the symptoms I am experiencing are due to this condition. Who can I talk to?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hypolipoproteinemia?

Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. 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.[1] Associated genetic disorders includes abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease. Symptoms of the genetic or familial form of hypolipoproteinemia varies. 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.[1]
Last updated: 8/28/2009

What causes familial or genetic hypolipoproteinemia?

Cholesterol levels in general are thought to be influenced by genetic factors.[2] Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention disease.[1] 

Hypobetalipoproteinemia is inherited in an autosomal dominant fashion. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.[3]  In some families the condition is due to mutations in a gene called APOB, in other families the underlying mutation has not been identified.[2] People with this condition usually do not experience symptoms. People who inherit two hypobetalipoproteinemia gene mutations may have extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Some of these individuals have no symptoms while others  have developed fatty liver, intestinal fat malabsorption, and neurological problems.[4]

Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. Mutations in the MTTP gene cause abetalipoproteinemia. It is passed through families in an autosomal recessive pattern. Click here to learn more about autosomal recessive inheritance. The signs and symptoms of abetalipoproteinemia may include failure to thrive, diarrhea, abnormal star-shaped red blood cells, and fatty, foul-smelling stools in infants, nervous system impairment in children, retinitis pigmentosa and difficulty with balance and walking in childhood or adulthood.[5]

Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide and is also inherited in an autosomal recessive pattern. The signs and symptoms appear in the first few months of life and may include failure to thrive, diarrhea, fatty, foul-smelling stools, and later nervous system impairment.[6]

Other genetic conditions characterized by hypolipoproteinemia include, but is not limited to:

Lecithin acyltransferase deficiency
Tangier Disease
Last updated: 8/28/2009

Are there other symptoms associated with hypolipoproteinemia?

Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers.[2]
Last updated: 8/28/2009

Who can I speak to regarding my diagnosis, symptoms, and treatment options?

To learn more about familial hypolipoproteinemia and whether or not your symptoms are caused by this condition we recommend that you speak with a genetic professional. Genetic professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. They will review your medical history and family medical history and assist in determining the underlying cause for your symptoms and hypolipoproteinemia. Click here to learn more about genetic consultations.
Last updated: 8/28/2009

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.