Chylomicronemia syndrome is a disorder passed down through families in which the body does not break down fats (lipids) correctly. This causes fat particles called chylomicrons to build up in the blood.

Familial lipoprotein lipase deficiency

Chylomicronemia syndrome is a rare genetic disorder. It occurs when a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle and helps break down certain lipids. When LpL is missing or broken, fat particles called chylomicrons build up in the blood. This build up is called chylomicronemia.

Symptoms may start in infancy and include:

• Abdominal pain due to pancreatitis (inflammation of the pancreas)
• Yellow deposits of fatty material in the skin called xanthomas may appear on the eyelids, palms of the hands, soles of the feet, or on the extensor surfaces of the knees and elbows

Examination and tests may show an enlarged liver and spleen, inflammation of the pancreas, fatty deposits under the skin, and possibly deposits in the retina of the eye.

A creamy layer due to chylomicrons in the blood will appear when blood spins in a laboratory machine.

The triglyceride level is extremely high.

A completely fat-free diet is required.

Symptoms tend to be dramatically reduced when patients adhere to a fat-free diet.

When untreated, the excess chylomicrons may lead to bouts of pancreatitis, which can be extremely painful and even life threatening. There seems to be no increased risk for atherosclerotic heart disease.

Seek immediate medical care if you have abdominal pain or other warning signs of pancreatitis.

Call for an appointment with your health care provider if you have a personal or family history of high triglyceride levels.

There is no way to prevent this syndrome, but sticking to a fat-free diet and avoiding alcohol can prevent its symptoms.

Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.

Apolipoprotein CII (apoCII) is a protein found in large fat particles absorbed from the gastrointestinal tract. It is also found in very low density lipoprotein (VLDL), which is made up of mostly triglycerides.

This article discusses the test used to check for apoCII in a sample of your blood.

ApoCII; Apoprotein CII; ApoC2

Blood is typically drawn from a vein, usually from the inside of the elbow or the back of the hand. The site is cleaned with germ-killing medicine (antiseptic). The health care provider wraps an elastic band around the upper arm to apply pressure to the area and make the vein swell with blood.

Next, the health care provider gently inserts a needle into the vein. The blood collects into an airtight vial or tube attached to the needle. The elastic band is removed from your arm.

Once the blood has been collected, the needle is removed, and the puncture site is covered to stop any bleeding.

In infants or young children, a sharp tool called a lancet may be used to puncture the skin and make it bleed. The blood collects into a small glass tube called a pipette, or onto a slide or test strip. A bandage may be placed over the area if there is any bleeding.

You may be told not to eat or drink anything for 4 - 6 hours before the test.

When the needle is inserted to draw blood, you may feel moderate pain, or only a prick or stinging sensation. Afterward, there may be some throbbing.

ApoCII measurements can help to determine the specific type or cause of high blood lipids (hyperlipidemia).

Usually, apoCII is reported as present or absent. If the specific level is measured, the normal value may vary according to the institution performing the test.

Note: Normal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.

High levels of apoCII may be due to:

• Angina pectoris
• Familial lipoprotein lipase deficiency
• Heart attack

Low apoCII levels are seen in persons with a rare condition called familial apoprotein CII deficiency. This causes chylomicronemia syndrome.

Veins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others.

Other risks associated with having blood drawn are slight but may include:

• Excessive bleeding
• Fainting or feeling light-headed
• Hematoma (blood accumulating under the skin)
• Infection (a slight risk any time the skin is broken)

Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.