Introduction:
Hepatic lipase deficiency is a rare condition that limits the body’s ability to break down fats, leading to increased levels of certain fats called triglycerides and cholesterol in the body. Also, affected individuals can have increased levels of specific substances called HDL (high-density lipoprotein or good cholesterol) and LDL (low-density lipoprotein or bad cholesterol). HDL and LDL function by transporting triglycerides and cholesterol throughout the body.
HDL is called the good cholesterol as it transports the cholesterol to the liver to be expelled by the body. LDL is the bad cholesterol as it takes the cholesterol to the arteries, where it builds up, increasing the risk of blood clots and stroke. An imbalance in the levels of HDL and LDL in patients affected with hepatic lipase disorder can lead to fat deposition in the arteries of the heart, thereby increasing the risk of heart disease. People develop atherosclerosis (buildup of fats and cholesterol on the artery walls, which leads to the narrowing of the arteries) and heart diseases in mid-adulthood, which is more common in those with hepatic lipase deficiency disorder.
What Are the Other Names of Hepatic Lipase Deficiency Disorder?
The other names of the condition include:
-
LIPC deficiency.
-
HL deficiency.
-
Hyperlipidemia due to hepatic triglyceride lipase deficiency.
-
Hyperlipidemia due to hepatic lipase deficiency.
Who Is More Prone to Get Hepatic Lipase Deficiency?
Hepatic lipase deficiency is a rare disorder present since birth. Both males and females are equally affected, and the symptoms may start showing at any age. It occurs worldwide, with individuals of all ethnic and racial groups being diagnosed with the condition.
What Is the Cause of Hepatic Lipase Deficiency Disorder?
Hepatic lipase is an enzyme produced by the liver cells that helps in the breakdown of fat in the body. This enzyme, when released into the bloodstream, helps in converting VLDL (very low-density lipoprotein) and IDL (intermediate-density lipoprotein) into LDL (low-density lipoprotein). Also, the enzyme helps HDLs to transport cholesterol and triglycerides from the blood into the liver. The fats deposited in the liver are either redistributed to different body tissues or removed from the body.
Hepatic lipase deficiency occurs due to changes (mutations) in a gene called LIPC, which provides instructions to make the hepatic lipase enzyme. Changes in the gene restrict the release of hepatic lipase or reduce its activity in the bloodstream. Due to this, VLDL and IDL do not get converted into LDL. Also, HDL, which carries cholesterol and triglycerides, remains in the blood. It is unclear what are the effects of these changes in the body in patients with hepatic lipase deficiency. However, it is believed that high-fat levels in the blood can pose a risk of heart disease.
What Factors Increase the Risk of Developing Hepatic Lipase Deficiency Disorder?
Hepatic lipase deficiency is an inherited disorder, which means the abnormal genes are transferred from both parents to the child. Positive family history indicates that the parents who have the disorder greatly increase the chance of risk being passed on to the child. Having a risk factor does not confirm the occurrence of a disease. It means that the chances of disease are more in a particular set of people. Also, having no risk factors does not make a person immune to diseases.
What Are the Symptoms of Hepatic Lipase Deficiency Disorder?
Signs and symptoms of the disorder can vary from mild to severe. Also, the affected people may have different symptoms based on the severity of the condition. Symptoms are noted due to conditions like:
-
Hypertriglyceridemia.
-
Angina pectoris.
-
Eruptive xanthomas.
-
Premature coronary artery atherosclerosis.
-
Increase in circulating HDL levels.
Hypertriglyceridemia:
Hypertriglyceridemia is a condition in which there are elevated levels of triglycerides in the blood for very long periods. This can lead to a high risk of heart disease. The normal range of triglycerides is less than 150 mg/dL (milligrams per deciliter). Very high levels, exceeding 500 mg/dL, can cause an inflammation of the pancreas, known as pancreatitis.
Angina Pectoris:
A condition that causes discomfort or pain in the chest because the heart muscle does not receive enough oxygen. Blockage of arteries can be the main reason for angina pectoris.
Eruptive Xanthomas:
Eruptive xanthoma is a skin condition in which there are yellow-red bumps on the skin that occur due to high levels of cholesterol and triglycerides in the blood.
Premature Coronary Artery Atherosclerosis:
Reduction of the diameter of heart arteries that occurs due to abnormal accumulation of fats on the inner parts of the artery before the age of 45 years. Medicines, regular physical activity, lifestyle changes, and a healthy diet help in preventing the condition from worsening.
How Is Hepatic Lipase Deficiency Disorder Diagnosed?
Doctors may suggest the following tests to diagnose hepatic lipase deficiency disorder, which include:
-
Physical examination of the patient.
-
Taking down a thorough medical history.
-
Assessing the signs and symptoms.
-
Laboratory tests to determine the blood levels of triglycerides and cholesterol.
-
Imaging tests help to know if there is a deposition of fats in the arteries.
-
Biopsy, in which a sample of tissue is taken to be assessed. It is done only in required cases.
Many conditions may have similar symptoms to that of hepatic lipase deficiency. Therefore, the doctor may advise further tests to rule out any other possible causes.
How Is Hepatic Lipase Deficiency Disorder Treated?
Signs, symptoms, and complications are managed based on the severity, with there being no definite treatment for the condition as it is a genetic disorder.
Can Hepatic Lipase Deficiency Disorder Be Prevented?
Hepatic lipase deficiency cannot be prevented as it is a genetic disorder. People with a family history of the disorder are advised to go for genetic counseling before planning a pregnancy to assess the risks. Parents who are already expecting are advised to go for genetic testing and prenatal screening (done during pregnancy to determine if the unborn child has any risks of having genetic conditions) and take counseling accordingly.
Conclusion:
Hepatic lipase deficiency is a genetic disorder that causes a buildup of high levels of fats in the body. Management of the condition depends on early detection and treatment given based on the symptoms and complications. As it can cause serious heart disease and stroke when left untreated, regular testing and periodic monitoring of the blood levels of fats is mandatory. Doctors may recommend a healthy lifestyle, a nutritious, low-fat diet, and regular exercise to keep the symptoms under control.
