Lipoprotein Lipase Deficiency (Familial Chylomicronemia)

A rare genetic disease with extremely high triglyceride levels and a risk of acute pancreatitis.

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 10, 2026

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Lipoprotein Lipase Deficiency (Familial Chylomicronemia)?

Familial lipoprotein lipase (LPL) deficiency or familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder in which chylomicrons cannot be metabolized due to mutations in LPL or its cofactors (APOC2, APOA5, GPIHBP1, LMF1), resulting in extremely high triglyceride levels (usually >1000 mg/dL).

The disease can be recognized in infancy or childhood; the plasma appears milky, and the presence of chylomicrons is shown by a 'plasma layering' test. Its most serious complication is recurrent attacks of acute pancreatitis.

Strict fat restriction (less than 15% of daily energy from fat) is the cornerstone of treatment; recently approved APOC3 inhibitors (volanesorsen) have been added to the treatment options.

Symptoms

Extremely high triglyceride levels

Abdominal pain and recurrent acute pancreatitis

Milky plasma

Eruptive xanthomas

Hepatosplenomegaly

Lipemia retinalis

Difficulty concentrating and fatigue

Risk Factors

Autosomal recessive inheritance

Consanguineous marriage

Mutations in LPL, APOC2, APOA5, GPIHBP1, LMF1

Onset in childhood

Pregnancy (may increase triglycerides)

High-fat diet

Alcohol consumption (trigger)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

Unexplained very high triglycerides
Recurrent abdominal pain and pancreatitis
Childhood lipemia and xanthomas
Excessive triglyceride elevation during pregnancy
Milky plasma in pancreatitis

Treatment Methods

Strict fat restriction (<15% of daily energy from fat)

Addition of medium-chain triglycerides (MCT) to the diet

Omega-3 fatty acids and fibrates (limited efficacy)

Volanesorsen and other APOC3 inhibitors

Standard treatment of acute pancreatitis

Multidisciplinary approach in pregnancy planning

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.