Hepatic lipase deficiency

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Reviewed December 2015

What is hepatic lipase deficiency?

Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large.

Normally, high levels of HDL (known as "good cholesterol") and low levels of LDL (known as "bad cholesterol") are protective against an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease. However, some individuals with hepatic lipase deficiency, who have this imbalance of HDL and LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do not. It is unknown whether people with hepatic lipase deficiency have a greater risk of developing atherosclerosis or heart disease than individuals in the general population. Similarly, it is unclear how increased blood triglycerides and cholesterol levels affect the risk of atherosclerosis and heart disease in people with hepatic lipase deficiency.

How common is hepatic lipase deficiency?

Hepatic lipase deficiency is likely a rare disorder; only a few affected families have been reported in the scientific literature.

What genes are related to hepatic lipase deficiency?

Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs) to LDLs. The enzyme also assists in transporting HDLs that carry cholesterol and triglycerides from the blood to the liver, where the HDLs deposit these fats so they can be redistributed to other tissues or removed from the body.

LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result, VLDLs and IDLs are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglycerides remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency.

How do people inherit hepatic lipase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of hepatic lipase deficiency?

These resources address the diagnosis or management of hepatic lipase deficiency and may include treatment providers.

You might also find information on the diagnosis or management of hepatic lipase deficiency inEducational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about hepatic lipase deficiency?

You may find the following resources about hepatic lipase deficiency helpful. These materials are written for the general public.

MedlinePlus - Health information (4 links)
Additional NIH Resources - National Institutes of Health
National Heart, Lung, and Blood Institute: What is Cholesterol?
Educational resources - Information pages (8 links)
Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Genetic Testing Registry - Repository of genetic test information (1 link)
PubMed - Recent literature
OMIM - Genetic disorder catalog

What other names do people use for hepatic lipase deficiency?

HL deficiency
hyperlipidemia due to hepatic triglyceride lipase deficiency
LIPC deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about hepatic lipase deficiency?

Ask the Genetic and Rare Diseases Information Center

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding hepatic lipase deficiency?

artery ; atherosclerosis ; autosomal ; autosomal recessive ; cell ; cholesterol ; deficiency ; enzyme ;gene ; HDL ; hepatic ; inherited ; LDL ; lipase ; lipid ; low-density lipoproteins ; population ;recessive ; triglycerides

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (3 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook