What are the other Names for this Condition? (Also known as/Synonyms)

• Hyperlipidemia due to Hepatic Lipase Deficiency
• Hyperlipidemia due to Hepatic Triacylglycerol Lipase Deficiency
• LIPC Deficiency Disorder

What is Hepatic Lipase Deficiency Disorder? (Definition/Background Information)

• Hepatic Lipase Deficiency Disorder is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood
• Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body
• Hepatic Lipase Deficiency Disorder is caused by changes (mutations) in the LIPC gene and is inherited in an autosomal recessive manner
• Treatment is based on the signs and symptoms present in each person

(Source: Hepatic Lipase Deficiency; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Hepatic Lipase Deficiency Disorder? (Age and Sex Distribution)

• Hepatic Lipase Deficiency Disorder is a rare congenital disorder. The presentation of symptoms may occur at any age
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Hepatic Lipase Deficiency Disorder? (Predisposing Factors)

• A positive family history may be an important risk factor, since Hepatic Lipase Deficiency Disorder can be inherited
• Currently, no other risk factors have been clearly identified for this disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Hepatic Lipase Deficiency Disorder? (Etiology)

• Hepatic Lipase Deficiency Disorder is caused by mutations in the LIPC gene, which codes for the enzyme hepatic lipase
• This enzyme is produced in the liver, and is involved in the conversion of very low density lipoprotein (VLDL) to low density lipoproteins (LDL), as well as the transport of high density lipoprotein (HDL)
• The condition is inherited in an autosomal recessive manner

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Hepatic Lipase Deficiency Disorder?

The signs and symptoms of Hepatic Lipase Deficiency Disorder may vary among affected individuals in type and severity.

Based on the frequency of symptoms observed, the following information may be noted:

• Angina pectoris
• Eruptive xanthomas
• Hypertriglyceridemia
• Increased circulating high-density lipoprotein levels

(Source: Hepatic Lipase Deficiency; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Hepatic Lipase Deficiency Disorder Diagnosed?

Hepatic Lipase Deficiency Disorder is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Hepatic Lipase Deficiency Disorder?

The complications of Hepatic Lipase Deficiency Disorder may include:

• Cosmetic issues causing emotional stress
• Premature coronary artery atherosclerosis

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Hepatic Lipase Deficiency Disorder Treated?

There is no cure for Hepatic Lipase Deficiency Disorder, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Hepatic Lipase Deficiency Disorder be Prevented?

Hepatic Lipase Deficiency Disorder may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Hepatic Lipase Deficiency Disorder? (Outcomes/Resolutions)

• The prognosis of Hepatic Lipase Deficiency Disorder is dependent upon the severity of the signs and symptoms and associated complications, if any
• Some of those affected may develop atherosclerosis and heart disease in mid-adulthood
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Hepatic Lipase Deficiency Disorder:

Hepatic Lipase Deficiency Disorder may also be known by the following addiitonal synonyms:

• Hyperlipidemia due to Hepatic Triglyceride Lipase Deficiency
• Hyperlipidemia due to HL Deficiency
• Hyperlipidemia due to HTGL Deficiency

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/