National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hypolipoproteinemia

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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?

The following information may help to address your question:


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. Associated genetic disorders includes abetalipoproteinemia, familial hypobetalipoproteinemia, and chylomicron retention disease.[1][2] 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.[1] Treatment for hypoproteinemia varies depending on the underlying cause and signs and symptoms present in each individual. 
Last updated: 12/1/2016

What causes familial or genetic hypolipoproteinemia?

Very low levels of lipids (hypolipoproteinemia) can be caused by certain genetic conditions, including familial hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention disease.[1] 

Familial hypobetalipoproteinemia is usually caused by mutations in the APOB gene. In a few cases, it may be caused by mutations in other genes, or the cause may be unknown. It is inherited in an autosomal codominant manner. This means that a mutation in one copy of the APOB gene can cause the condition, but changes in both copies of the gene cause more severe symptoms.[3]

Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner.[4]

Chylomicron retention disease is caused by mutations in the SAR1B gene and is inherited in an autosomal recessive manner.[5]

Last updated: 12/1/2016

What are the signs and symptoms associated with familial hypolipoproteinemia?

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.[1] To view more detailed information on the associated signs and symptoms for the different genetic causes click on the links below:


Last updated: 12/2/2016

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: 12/2/2016

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 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: 12/6/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Hypolipoproteinemia. MERCK Manuals. August 2015; http://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/lipid-disorders/hypolipidemia. Accessed 12/1/2016.
  2. RR Elmehdawi. Hypolipidemia: A Word of Caution. Libyan Journal of Medicine. 2008; 3(2):84-90. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3074286/.
  3. Familial hypobetalipoproteinemia. Genetics Home Reference (GHR). August 2012; http://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia.
  4. Abetalipoproteinemia. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition/abetalipoproteinemia. Accessed 12/1/2016.
  5. Chylomicron retention disease. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition/chylomicron-retention-disease. Accessed 12/1/2016.