Familial lipoprotein lipase deficiency

Familial lipoprotein lipase (LPL) deficiency is a rare inherited metabolic disorder that affects how your body breaks down fats (triglycerides) in the blood. It is also known as type I hyperlipoproteinemia, familial chylomicronemia syndrome, or hyperlipoproteinemia type Ia. In this condition, the enzyme lipoprotein lipase — which normally breaks down fat-carrying particles called chylomicrons — is either missing or does not work properly. As a result, triglyceride levels in the blood become extremely high, often exceeding 1,000 mg/dL and sometimes reaching over 10,000 mg/dL. The disease usually appears in infancy or early childhood. Key symptoms include repeated episodes of severe abdominal pain caused by inflammation of the pancreas (acute pancreatitis), an enlarged liver and spleen, yellowish fatty deposits under the skin (eruptive xanthomas), and milky-appearing blood due to the high fat content. Some patients also experience fatigue, poor appetite, and failure to thrive in childhood. Treatment has traditionally centered on a very strict low-fat diet, typically limiting dietary fat to 15–20 grams per day or less. Medium-chain triglyceride (MCT) oil supplements may be used because they are absorbed differently and do not require LPL for processing. In 2021, the FDA approved volanesorsen (Waylivra) for certain patients with familial chylomicronemia syndrome in some countries, though access varies. Gene therapy (alipogene tiparvovec, marketed as Glybera) was previously approved in Europe but has since been withdrawn from the market. Managing this condition requires lifelong dietary vigilance and close medical follow-up to prevent life-threatening pancreatitis episodes.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What should my daily fat intake limit be, and can you refer me to a dietitian experienced with this condition?,What are the warning signs of pancreatitis, and what should I do if they occur?,Am I a candidate for volanesorsen or any other medication to help lower my triglycerides?,How often should I have blood tests to monitor my triglyceride levels and nutritional status?,Are there any clinical trials or new treatments being studied that I might be eligible for?,Should my family members be tested to see if they are carriers?,What fat-soluble vitamin and essential fatty acid supplements should I be taking?

Common questions about Familial lipoprotein lipase deficiency