Clinical characteristics.

The following description of lipoprotein lipase (LPL) deficiency may be ameliorated if the diagnosis is made early in life and the affected individual is started on targeted therapies, including an ultra-low-fat diet. LPL deficiency usually presents in childhood with episodes of abdominal pain, recurrent acute pancreatitis, eruptive xanthomata, and hepatosplenomegaly. Approximately 25% of affected children develop symptoms before age one year and the majority develop symptoms before age ten years; however, some individuals present for the first time during pregnancy. The severity of symptoms correlates with the degree of chylomicronemia. When triglyceride concentrations exceed 4,000 mg/dL, the retinal arterioles and venules, and often the fundus itself, develop a pale pink color ("lipemia retinalis"), caused by light scattering by large chylomicrons. This coloration is reversible and vision is not affected. Neuropsychiatric findings, including emotional, cognitive, and psychosocial symptoms, have been reported in some affected individuals, which significantly impact quality of life but may be reversible.

Diagnosis/testing.

The diagnosis of LPL deficiency is established in a proband with biallelic pathogenic variants in LPL identified by molecular genetic testing.

Management.

Targeted therapies: Morbidity and mortality can be prevented by maintaining plasma triglyceride concentration at less than 2,000 mg/dL; a good clinical goal is less than 1,000 mg/dL. Restriction of dietary fat to no more than 20 g/day or 15% of total energy intake is usually sufficient to reduce plasma triglyceride concentration to keep affected individuals free of symptoms. Olezarsen (Tryngolza^®) 80 mg administered subcutaneously once a month or plozasiran (Redemplo^®) 25 mg injected subcutaneously once every three months can also keep plasma triglycerides in a therapeutic range.

Supportive care: Standard treatment for pancreatitis. Enlarged liver and spleen can return to normal size within one week of lowering plasma triglyceride concentrations; xanthomata can clear over the course of weeks to months as triglyceride levels improve. Abdominal pain is usually a nonspecific symptom but can sometimes be a warning sign of subsequent deterioration to acute pancreatitis, with symptoms improving as triglyceride levels improve.

Surveillance: For an asymptomatic stable person with LPL deficiency, fasting triglyceride levels should be checked once every three months, or more frequently if symptoms occur.

Agents/circumstances to avoid: Avoidance of agents known to increase endogenous triglyceride concentration such as alcohol, oral estrogens, diuretics, isotretinoin, glucocorticoids, selective serotonin reuptake inhibitors, and beta-adrenergic blocking agents is recommended; fish oil supplements are contraindicated as they can raise triglyceride and chylomicron levels.

Evaluation of relatives at risk: Evaluate at-risk sibs during infancy in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive measures: evaluations can include molecular genetic testing for the familial LPL pathogenic variants and measurement of plasma triglyceride concentration. Screen first-degree relatives at risk of being heterozygous with a routine lipid panel.

Pregnancy management: During pregnancy in a woman with LPL deficiency, extreme dietary fat restriction to less than two grams per day during the second and third trimester with close monitoring of plasma triglyceride concentration can result in delivery of a normal infant with normal plasma concentrations of essential fatty acids.

Genetic counseling.

LPL deficiency is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an LPL pathogenic variant, each sib of an affected individual has at conception a 25% chance of inheriting biallelic pathogenic variants and being affected, a 50% chance of being heterozygous, and a 25% chance of inheriting neither of the familial pathogenic variants. Heterozygosity for LPL deficiency is associated with predisposition to hypertriglyceridemia. Once the LPL pathogenic variants have been identified in an affected family member, heterozygote testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.

Suggestive Findings

There are two accepted clinical scoring systems (European and North American) for familial chylomicronemia syndrome (FCS), of which LPL deficiency is a subtype [Moulin et al 2018, Hegele et al 2025]. Both scoring systems have been validated in multiethnic populations.

• The European FCS score has a maximum score of 14, with 10 or greater indicating that FCS is very likely [Moulin et al 2018, Figure 3; Bashir et al 2024].
• The North American FCS score has a maximum score of 100, with 45 or greater indicating that FCS is very likely and 60 or greater indicating definite FCS [Hegele et al 2025].

Note: Both the European and North American FCS scores have been evaluated for specificity, sensitivity, positive predictive value, and negative predictive value against the gold standard of a positive genetic diagnosis of LPL deficiency. For both scores, the negative predictive value is very high (>90%), while the positive predictive value is between 70% and 80%. In practice, a diagnostic FCS score serves as a placeholder or surrogate for a positive genetic diagnosis. Regulators will accept either a genetic diagnosis or clinical score, and access to novel biological therapies is being approved based on the clinical scoring systems [Hegele et al 2025].

LPL deficiency should be suspected in individuals (particularly those age <40 years) with the following clinical and supportive laboratory findings and family history.

Clinical findings

• Abdominal pain
• Recurrent acute pancreatitis
• Eruptive xanthomata
• Hepatosplenomegaly

Supportive laboratory findings

• Impaired clearance of chylomicrons from plasma causing the plasma to have a milky (lactescent or lipemic) appearance
• Plasma triglyceride concentrations greater than 2,000 mg/dL in the untreated state, regardless of fasting status

Family history is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Rarely, the family history may appear to be consistent with autosomal dominant inheritance, as a heterozygous parent may have sustained hypertriglyceridemia, often accompanied by secondary factors that lead to hypertriglyceridemia (see Clinical Description, Heterozygotes). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of LPL deficiency is established in a proband with biallelic pathogenic (or likely pathogenic) variants in LPL identified by molecular genetic testing (see Table 1).

Note: (1) Per American College of Medical Genetics and Genomics / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) Identification of biallelic LPL variants of uncertain significance (or of one known LPL pathogenic variant and one LPL variant of uncertain significance) does not establish or rule out the diagnosis.

Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see Option 1), whereas comprehensive genomic testing does not (see Option 2).

Clinical Description

Chylomicrons are large triglyceride-rich lipoprotein particles that appear in the circulation shortly after the ingestion of dietary fat; normally, they are cleared from plasma after an overnight fast. The degree of chylomicronemia in people with lipoprotein lipase (LPL) deficiency varies by dietary fat intake.

The following description of the condition may be ameliorated if the diagnosis is made early in life and the affected individual is started on targeted therapies, including an ultra-low-fat diet (see Management, Targeted Therapies). However, as this diet can be difficult to maintain throughout a lifetime, symptoms may occur even if diet and targeted therapies are instituted very early in life.

LPL deficiency usually presents in childhood with episodes of abdominal pain, recurrent acute pancreatitis, eruptive xanthomata, and hepatosplenomegaly. Approximately 25% of affected children develop symptoms before age one year and the majority develop symptoms before age ten years; however, some individuals present for the first time during pregnancy. The severity of symptoms correlates with the degree of chylomicronemia.

To date, more than 1,500 individuals have been identified with biallelic pathogenic or likely pathogenic variants in LPL [Perera et al 2025]. The following description of the phenotypic features associated with this condition is based on these reports.

Abdominal pain, which can vary from mildly bothersome to incapacitating, is usually mid-epigastric with radiation to the back. It may be diffuse and mimic an acute abdomen, often leading to unnecessary abdominal exploratory surgery. The pain probably results from chylomicronemia leading to pancreatitis.

Pancreatitis. The secondary complications of pancreatitis – diabetes mellitus, steatorrhea, and pancreatic calcification – are unusual in individuals with LPL deficiency and rarely occur before middle age. Pancreatitis in LPL deficiency may rarely be associated with total pancreatic necrosis and death.

Eruptive xanthomas. About 50% of individuals with LPL deficiency have eruptive xanthomas (small yellow papules localized over the trunk, buttocks, knees, and extensor surfaces of the arms). However, xanthomas may become generalized.

• Xanthomas are deposits of lipid in the skin that result from the extravascular phagocytosis of chylomicrons by macrophages.
• They can appear rapidly when plasma triglyceride concentration exceeds 2,000 mg/dL and can sometimes regress if plasma triglyceride concentration is normalized.
• As a single lesion, they may be several millimeters in diameter; rarely, they may coalesce into plaques.
• They are usually not tender unless they occur at a site susceptible to repeated abrasion.

Hepatosplenomegaly often occurs when plasma triglyceride concentrations are markedly increased. The organomegaly results from triglyceride uptake by macrophages, which become foam cells.

Eyes. When triglyceride concentrations exceed 4,000 mg/dL, the retinal arterioles and venules, and often the fundus itself, develop a pale pink color ("lipemia retinalis"), caused by light scattering by large chylomicrons. This coloration is reversible and vision is not affected.

Neuropsychiatric findings, including emotional, cognitive, and psychosocial symptoms, have been reported with familial chylomicronemia syndrome (FCS), including individuals with LPL deficiency. These significantly impact quality of life but may be reversible [Davidson et al 2018, Williams et al 2023].

Although some individuals with LPL deficiency can lead a normal life on a diet very low in total fat content, many experience emotional, cognitive, and psychosocial symptoms in addition to LPL deficiency-related comorbidities that significantly reduce their quality of life [Davidson et al 2018, Williams et al 2023]. There is some early evidence that psychosocial and subjective quality of life concerns are improved in individuals taking plozasiran and olezarsen (see Management, Targeted Therapies).

Heterozygotes. Heterozygosity for LPL deficiency is associated with a predisposition to hypertriglyceridemia, with plasma triglyceride levels ranging from normal to mild, moderate, or severely elevated depending on secondary factors. About 10% of individuals with multifactorial chylomicronemia syndrome (MCS) are heterozygous for a pathogenic LPL variant [Hegele 2025].

Genotype-Phenotype Correlations

As most pathogenic LPL variants have been reported in individual case reports or small case series, reliable systematic correlation of genotype-phenotype relationships is challenging. Biallelic pathogenic variants that lead to complete loss of LPL enzyme activity are associated with younger age of symptom onset, while individuals with LPL deficiency that retain residual LPL function (6%-7%) have delayed symptom onset with milder symptoms [Zhang et al 2023].

Nomenclature

LPL deficiency is the most common form of FCS (formerly known as "type I hyperlipoproteinemia").

Prevalence

The prevalence of FCS has been estimated at one in 300,000 [Javed et al 2025].

The disease has been described in individuals from all ancestral backgrounds. The prevalence is much higher in some areas of Quebec, Canada, as a result of a founder effect, with a prevalence of one in 10,000-30,000.

Consanguinity is observed in some families with LPL deficiency caused by homozygous pathogenic LPL variants.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with LPL deficiency, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

There is no cure for LPL deficiency.

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 7 are recommended.

Agents/Circumstances to Avoid

Avoidance of agents known to increase endogenous triglyceride concentration such as alcohol, oral estrogens, diuretics, isotretinoin, glucocorticoids, selective serotonin reuptake inhibitors, and beta-adrenergic blocking agents is recommended.

Fish oil supplements are contraindicated as they can raise triglyceride and chylomicron levels. However, pharmaceutical grade omega-3 fatty acid preparations (e.g., icosapent ethyl) have been used without deleterious effects.

Evaluation of Relatives at Risk

It is appropriate to evaluate at-risk sibs during infancy in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive measures. Early diagnosis and implementation of dietary fat intake restriction can prevent symptoms and related medical complications. Evaluations can include:

• Molecular genetic testing for the familial LPL pathogenic variants;
• Measurement of plasma triglyceride concentration.

Note: Because heterozygotes for LPL deficiency have susceptibility to hypertriglyceridemia (ranging from mild to severe), screening of first-degree relatives with a routine lipid panel is recommended.

See Genetic Counseling for issues related to evaluation of at-risk relatives for genetic counseling purposes.

Pregnancy Management

Women who have FCS (including women with LPL deficiency) have an estimated 120-fold increased risk of developing acute pancreatitis during pregnancy compared to pregnant women who do not have chylomicronemia [Larouche et al 2026].

During pregnancy in a woman with LPL deficiency, extreme dietary fat restriction to less than two grams per day during the second and third trimester with close monitoring of plasma triglyceride concentration can result in delivery of a normal infant with normal plasma concentrations of essential fatty acids [Al-Shali et al 2002]. There are some reports of selective intermittent use of plasmapheresis in the third trimester [Pećin et al 2022]; however, this procedure is generally not recommended in clinical guidance statements [Javed et al 2025].

One woman with LPL deficiency delivered a normal child following a 1 g/day fat diet and treatment with gemfibrozil (600 mg/day) [Tsai et al 2004]. Other case reports suggest that fibrates were safely used in the third trimester [Goldberg & Hegele 2012]. Despite concerns about the possibility of essential fatty acid deficiency in the newborn, normal essential fatty acids were found in cord blood, as were normal levels of fibrate metabolites.

See MotherToBaby for further information on medication use during pregnancy.

Therapies Under Investigation

Several targeted therapies are in development or under investigation, including inhibitors of microsomal triglyceride transfer protein [Giammanco et al 2026], apolipoprotein C-III, and angiopoietin-like protein 3 [Spagnuolo & Hegele 2024].

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Other

The lipid-lowering drugs that are used to treat other disorders of lipid metabolism are not effective in individuals with LPL deficiency.

Although plasmapheresis and antioxidant therapy have been suggested as treatment for pancreatitis, they do not appear to be needed for either acute therapy or long-term care.

Mode of Inheritance

Lipoprotein lipase (LPL) deficiency is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

• The parents of an affected individual are presumed to be heterozygous for an LPL pathogenic variant. A heterozygous parent may have sustained hypertriglyceridemia, often accompanied by secondary factors that lead to hypertriglyceridemia [Hegele 2025].
• Molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for an LPL pathogenic variant and to allow reliable recurrence risk assessment.
• If a pathogenic LPL variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a de novo event in the proband or as a postzygotic de novo event in a mosaic parent [Jónsson et al 2017]. If the proband appears to have homozygous pathogenic LPL variants (i.e., the same two pathogenic variants), additional possibilities to consider include:
  • A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;
  • Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.
• Heterozygosity for LPL deficiency is associated with a predisposition to hypertriglyceridemia. Depending on secondary factors, plasma triglyceride levels in heterozygotes range from normal to mild, moderate, or severe hypertriglyceridemia, with increased risk for premature atherosclerotic cardiovascular disease at mild-to-moderate levels and increased risk of acute pancreatitis at high levels.

Sibs of a proband

• If both parents are known to be heterozygous for an LPL pathogenic variant, each sib of an affected individual has at conception a 25% chance of inheriting biallelic pathogenic variants and being affected, a 50% chance of being heterozygous, and a 25% chance of inheriting neither of the familial pathogenic variants.
• Heterozygosity for LPL deficiency is associated with a predisposition to hypertriglyceridemia. Depending on secondary factors, plasma triglyceride levels in heterozygotes range from normal to mild, moderate, or severe hypertriglyceridemia, with increased risk for premature atherosclerotic cardiovascular disease at mild-to-moderate levels and increased risk of acute pancreatitis at high levels.

Offspring of a proband. Unless an affected individual's reproductive partner also has LPL deficiency or is heterozygous for an LPL pathogenic variant, offspring will be obligate heterozygotes for a pathogenic variant in LPL.

Other family members. Each sib of the proband's parents is at a 50% risk of being heterozygous for an LPL pathogenic variant.

Heterozygote Detection

Heterozygote testing for at-risk relatives requires prior identification of the LPL pathogenic variants in the family.

The lipid phenotype of heterozygotes varies widely from completely normal to moderate-to-severe hypertriglyceridemia and cannot be used to predict genetic status.

Related Genetic Counseling Issues

See Evaluation of Relatives at Risk for information on evaluating at-risk sibs for the purpose of early diagnosis and treatment.

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are heterozygous, or are at risk of being heterozygous.
• Heterozygote testing should be considered for the reproductive partners of known heterozygotes and for the reproductive partners of individuals affected with LPL deficiency, particularly if consanguinity is likely and/or both partners are of the same ancestry. The prevalence of LPL deficiency is much higher in some areas of Quebec, Canada, as a result of a founder effect.

Prenatal Testing and Preimplantation Genetic Testing

Once the LPL pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

Lipoprotein lipase (LPL) is a glycoprotein that is synthesized in adipose tissue and cardiac and skeletal muscle but not in the postpartum liver. It is transported to the luminal surface of the capillary endothelium of extrahepatic tissues. It is essential for the hydrolysis of chylomicron and very-low-density lipoprotein triglycerides to provide free fatty acids to tissue for energy production. LPL has two major domains: a larger NH₂-terminal domain linked by a short region to a COOH-terminal domain of approximately half its size. The globular NH₂-terminal domain specifies the catalytic properties of the lipase, whereas the COOH-terminal domain specifies substrate specificity and heparin-binding properties.

Mechanism of disease causation. Loss of function

Missing variants. If the clinical diagnosis has been established but only one LPL pathogenic variant has been identified in the proband, it is possible that the proband has a pathogenic variant on the other allele that has not yet been detected or is undetectable by current molecular diagnostic methods (e.g., a deep intronic pathogenic variant) or has not been reported by a molecular testing laboratory. Also, a few heterozygotes may transiently develop severe hypertriglyceridemia within a range that resembles genuine LPL deficiency, but they are generally very responsive to control of secondary factors and standard pharmacotherapy such as fibrates.

Author History

John D Brunzell, MD; University of Washington (1999-2017)
John R Burnett, MB ChB, MD, PhD, FRCPA (2017-present)
Robert A Hegele, MD, FRCPC, FACP (2017-present)
Amanda J Hooper, PhD (2017-present)

Revision History

• 23 July 2026 (ma) Comprehensive update posted live
• 22 June 2017 (ma) Comprehensive update posted live
• 15 December 2011 (me) Comprehensive update posted live
• 28 July 2009 (me) Comprehensive update posted live
• 24 April 2006 (me) Comprehensive update posted live
• 9 April 2004 (me) Comprehensive update posted live
• 18 February 2002 (me) Comprehensive update posted live
• 12 October 1999 (me) Review posted live
• April 1999 (jb) Original submission

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