[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Conditions](https://durgical.com/en/conditions/) › Familial chylomicronemia syndrome (lipoprotein lipase deficiency) [Conditions](https://durgical.com/en/conditions/) · [Metabolism: cholesterol and lipoproteins](https://durgical.com/en/conditions/) # Familial chylomicronemia syndrome (lipoprotein lipase deficiency) A rare inherited disorder in which chylomicrons are not emptied: triglycerides rise enormously and cause pancreatitis. Updated 2026-11-01 ## Structures involved Tap one to see what it is and open it in 3D. - [Pancreas](https://durgical.com/en/anatomy/pancreas/) - [Liver](https://durgical.com/en/anatomy/liver/) - [Spleen](https://durgical.com/en/anatomy/spleen/) - [Retina](https://durgical.com/en/anatomy/retina/) ## In biochemistry - [Lipoprotein lipase (LPL)](https://durgical.com/en/biochemistry/enzymes/lipoprotein-lipase/) - [Lipoprotein metabolism](https://durgical.com/en/biochemistry/topics/lipoprotein-metabolism/) - [Chylomicron](https://durgical.com/en/biochemistry/topics/chylomicron/) - [Lipase as a lab test](https://durgical.com/en/biochemistry/topics/lipase-as-a-lab-test/) - [Centrifugation and ultracentrifugation](https://durgical.com/en/biochemistry/topics/centrifugation-and-ultracentrifugation/) - [Fredrickson classification of hyperlipoproteinaemias](https://durgical.com/en/biochemistry/topics/fredrickson-classification-of-hyperlipoproteinaemias/) ## In physiology - [Fat digestion and absorption](https://durgical.com/en/physiology/fat-digestion-and-absorption/) ## What it is An autosomal recessive disorder caused by absent lipoprotein lipase activity, or of the proteins that activate or anchor it, with persistent chylomicrons and extremely high triglycerides. ## Who gets it Very rare: about 1 per million people. It usually shows in childhood or adolescence and is more common where consanguinity is frequent. ## Causes - Two LPL variants (the most common cause) - Variants of APOC2, GPIHBP1, APOA5 or LMF1 ## Risk factors - Carrier or related parents - Triggers: high-fat meals, alcohol, pregnancy and oestrogens ## Pathophysiology Without LPL chylomicron triglyceride is not hydrolysed: particles accumulate and plasma turns milky, with triglycerides often above 1000 mg/dL. In the [pancreas](https://durgical.com/en/anatomy/pancreas/), pancreatic lipase frees fatty acids from this triglyceride that injure the tissue and cause pancreatitis; the excess deposits in [skin](https://durgical.com/en/anatomy/skin/) (eruptive xanthomas), liver and spleen. ## Symptoms and signs - Recurrent abdominal pain - Repeated acute pancreatitis - Eruptive xanthomas (yellow papules on buttocks, back and elbows) - Hepatosplenomegaly - Lipaemia retinalis (creamy-white retinal vessels) ## Red flags - Severe abdominal pain radiating to the back with vomiting - Milky serum in a child - Triglycerides of 1000 mg/dL or more - Pancreatitis during pregnancy ## Diagnosis **Clinical** Recurrent pancreatitis or abdominal pain from childhood with milky plasma and eruptive xanthomas. **Tests** Very high fasting triglycerides with chylomicrons (creamy layer on refrigerated serum); amylase and lipase during attacks; post-heparin LPL activity; genetic testing of LPL, APOC2, GPIHBP1, APOA5 and LMF1. **Imaging** Abdominal ultrasound or CT for pancreatitis, [liver](https://durgical.com/en/anatomy/liver/) and [spleen](https://durgical.com/en/anatomy/spleen/); fundus examination for lipaemia retinalis. ## Treatment **Lifestyle** Very-low-fat diet with dietitian support and no alcohol **Medical** Medium-chain triglycerides in the diet (absorbed without chylomicrons) and fat-soluble vitamins as needed **Medical** Drugs against ApoC-III (volanesorsen, olezarsen) where approved **Acute** Acute pancreatitis care: bowel rest, fluids and analgesia; sometimes plasmapheresis to lower triglycerides **Follow-up** Triglyceride follow-up, especially in pregnancy ## Complications - Necrotising pancreatitis - Chronic pancreatitis and pancreatic insufficiency - Diabetes from pancreatic damage ## Prognosis A strict diet reduces pancreatitis; the outlook depends mainly on preventing it. ## Test yourself Think of the answer, then tap the question to see it. ## Which lipoprotein builds up in lipoprotein lipase deficiency? Chylomicrons (type I hyperlipoproteinaemia). ## What is the most dangerous complication of this syndrome? Acute pancreatitis, driven by extremely high triglycerides. ## Why are medium-chain triglycerides used in the diet? They are absorbed straight into the portal vein without forming chylomicrons, so they do not need LPL. ## Why do these patients respond poorly to fibrates and statins? These drugs work through LPL or the LDL receptor; without working LPL they cannot clear chylomicrons. [Add to my cards (4)](https://durgical.app/estudiar/?add=/en/conditions/familial-chylomicronemia-syndrome/) ## Related conditions - [Acute pancreatitis](https://durgical.com/en/conditions/acute-pancreatitis/) Educational information, not medical advice. For any symptom, see a health professional. Sources: [Familial lipoprotein lipase deficiency: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency/) (MedlinePlus, US National Library of Medicine, 2026); [Familial lipoprotein lipase deficiency: MedlinePlus Medical Encyclopedia](https://medlineplus.gov/ency/article/000408.htm) (MedlinePlus, US National Library of Medicine, 2026); [LPL gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/lpl/) (MedlinePlus, US National Library of Medicine, 2026). [← All conditions](https://durgical.com/en/conditions/) ## **Spotted a mistake?** We are always improving for the community. Tell us what is wrong and our team will review it. Report a mistake Representative model, for educational purposes only. --- Source: https://durgical.com/en/conditions/familial-chylomicronemia-syndrome/ License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/familial-chylomicronemia-syndrome/