NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.

Cover of GeneReviews®

GeneReviews® [Internet].

Show details

Familial Lipoprotein Lipase Deficiency

Synonyms: Familial LPL deficiency, Type I Hyperlipoproteinemia
, MD
Professor of Medicine Emeritus (active), Division of Metabolism, Endocrinology, and Nutrition
Clinical Director, Northwest Lipid Research Laboratories
University of Washington School of Medicine
Seattle, Washington

Initial Posting: ; Last Update: December 15, 2011.


Clinical characteristics.

Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky ("lactescent" or "lipemic") appearance. Symptoms usually resolve with restriction of total dietary fat to 20 grams/day or less.


Familial LPL deficiency is caused by extremely low or absent activity of LPL, encoded by LPL. The diagnosis of familial LPL deficiency is based on the assay of LPL enzyme activity in plasma following intravenous administration of heparin. Detection of very low or absent LPL enzyme activity in an assay system that contains either normal plasma or apoprotein C-II and excludes hepatic lipase is diagnostic of familial LPL deficiency.


Treatment of manifestations: Treatment is based on medical nutrition therapy to maintain plasma triglyceride concentration at less than 1000 mg/dL. Maintenance of triglyceride levels below 2000 mg/dL prevents recurrent pain. Restriction of dietary fat to no more than 20 g/day or 15% of a total energy intake is usually sufficient to reduce plasma triglyceride concentration and to keep the individual with familial LPL deficiency free of symptoms. The acute pancreatitis episode is treated with standard care.

Surveillance: Monitoring of plasma triglycerides.

Agents/circumstances to avoid: Agents known to increase endogenous triglyceride concentration such as alcohol, oral estrogens, diuretics, isotretinoin, glucocorticoids, Zoloft®, and beta-adrenergic blocking agents; fish oil supplements are contraindicated because they contribute to chylomicron levels.

Genetic counseling.

Familial lipoprotein lipase deficiency is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family are known.


Clinical Diagnosis

Familial lipoprotein lipase (LPL) deficiency is suspected in individuals with the following:

  • Childhood-onset very severe hypertriglyceridemia (>2000 mg/dL) with episodic abdominal pain
  • Recurrent acute pancreatitis
  • Eruptive cutaneous xanthomata
  • Hepatosplenomegaly


Chylomicronemia / plasma triglyceride concentration

  • Affected individuals
    • Chylomicrons are large lipoprotein particles that appear in the circulation shortly after the ingestion of dietary fat; normally, they are cleared from plasma after an overnight fast. In familial LPL deficiency, clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky ("lactescent" or "lipemic") appearance.
    • Plasma triglyceride concentrations
      • In the presence of chylomicrons plasma triglyceride concentrations can be estimated fairly accurately by visual inspection. Plasma triglyceride concentrations are usually greater than 2000 mg/dL in the untreated state.
      • It is important to measure the plasma triglyceride concentration once as a baseline.
      • Routine measurement of non-fasting plasma triglyceride concentration can be used when fasting samples are difficult to obtain (e.g., in infants).
      • Plasma triglyceride concentration is an excellent measure of compliance with dietary fat restrictions.
  • Carriers. Heterozygotes have normal to moderately elevated plasma triglyceride concentrations.

Measurement of lipoprotein lipase enzyme activity

  • Affected individuals. The diagnosis of familial lipoprotein lipase deficiency is confirmed by detection of low or absent LPL enzyme activity in an assay system that contains either normal plasma or apoprotein C-II (a cofactor of LPL) and excludes hepatic lipase (HL).
    • LPL enzyme activity can be assayed in plasma ten minutes following intravenous administration of heparin (60 U/kg body wt). The absence of lipoprotein lipase enzyme activity in postheparin plasma is diagnostic of familial LPL deficiency.
    • LPL enzyme activity may be assayed directly in biopsies of adipose tissue.
    • LPL enzyme activity can be measured in selected children and young adults. For more information, contact the author at ude.notgnihsaw.u@lleznurb.
  • Carriers. Heterozygotes exhibit a 50% decrease of LPL enzyme activity in plasma following intravenous administration of heparin.

Molecular Genetic Testing

Gene. LPL is the only gene in which pathogenic variants are known to cause familial lipoprotein lipase deficiency.

Clinical testing

Table 1.

Summary of Molecular Genetic Testing Used in Familial Lipoprotein Lipase Deficiency

Gene 1Test MethodVariants Detected 2Variant Detection Frequency by Test Method 3
LPLSequence analysisSequence variants 4 (including p.Gly188Glu 5)~97% 6
Deletion/duplication analysis 7Partial- and whole-gene deletions and duplications~3% 8

See Molecular Genetics for information on allelic variants.


The ability of the test method used to detect a pathogenic variant that is present in the indicated gene


Examples of pathogenic variants detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


The pathogenic variant p.Gly188Glu, common in Europe, is present in fewer than 40% of individuals with LPL deficiency.


Testing that identifies exon or whole-gene deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.


Testing Strategy

To confirm/establish the diagnosis in a proband. Persistent severe hypertriglyceridemia (1000-2000 mg/dL) in an infant or child that is responsive to dietary fat intake is indicative of LPL deficiency.

  • When LPL deficiency is first suspected, a history of failure to thrive as an infant or recurrent abdominal pain as a child should be sought.
  • A fasting plasma triglyceride concentration should be obtained at least once for documentation.

Note: Neither measurement of post-heparin plasma LPL enzyme activity nor LPL molecular genetic testing is required to make a presumptive clinical diagnosis.

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

Note: Carriers are heterozygotes for this autosomal recessive disorder and are not at risk of developing the disorder.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the pathogenic variants in the family.

Clinical Characteristics

Clinical Description

Familial lipoprotein lipase (LPL) deficiency usually presents in childhood with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Males and females are affected equally.

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, which varies by dietary fat intake.

The 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.

Kawashiri et al [2005] reported that individuals with LPL deficiency can lead a fairly normal life on a diet very low in total fat content. The secondary complications of pancreatitis — diabetes mellitus, steatorrhea, and pancreatic calcification — are unusual in individuals with familial LPL deficiency and rarely occur before middle age. Pancreatitis in LPL deficiency may rarely be associated with total pancreatic necrosis and death.

About 50% of individuals with familial LPL deficiency have eruptive xanthomas, small yellow papules localized over the trunk, buttocks, knees, and extensor surfaces of the arms. 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 2000 mg/dL.

Xanthomas may become generalized. 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.

Hepatomegaly and splenomegaly often occur when plasma triglyceride concentrations are markedly increased. The organomegaly results from triglyceride uptake by macrophages, which become foam cells.

When triglyceride concentrations exceed 4000 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.

Reversible neuropsychiatric findings, including mild dementia, depression, and memory loss, have also been reported with chylomicronemia.

Genotype-Phenotype Correlations

There are no known genotype-phenotype correlations.


Familial LPL deficiency was previously included in the term "type 1 hyperlipoproteinemia."


The prevalence of familial LPL deficiency is approximately one in 1,000,000 in the general US population.

The disease has been described in all races. The prevalence is much higher in some areas of Quebec, Canada, as a result of a founder effect.

Consanguinity is often observed in families with homozygous familial LPL deficiency.

Differential Diagnosis

Familial LPL deficiency should be considered in young persons with the chylomicronemia syndrome, defined as abdominal pain, eruptive xanthomata, and plasma triglyceride concentrations greater than 2000 mg/dL. However, the majority of individuals with chylomicronemia and plasma triglyceride concentration greater than 2000 mg/dL do not have familial LPL deficiency; rather, they have one of the more common genetic disorders of triglyceride metabolism (i.e., familial combined hyperlipidemia and monogenic familial hypertriglyceridemia) occurring simultaneously with, and independently of, a common acquired secondary form of hypertriglyceridemia [Brunzell & Deeb 2001].

Secondary causes of hypertriglyceridemia are diabetes mellitus, paraproteinemic disorders, use of alcohol, and therapy with estrogen, glucocorticoids, Zoloft®, isotretinoin, and certain antihypertensive agents. In one series of 123 individuals evaluated for marked hypertriglyceridemia, 110 had an acquired cause of hypertriglyceridemia combined with a common genetic form of hypertriglyceridemia, five had familial LPL deficiency, five had other rare genetic forms of hypertriglyceridemia, and three had an unknown cause.

Other extremely rare genetic disorders can present with chylomicronemia with severe hypertriglyceridemia [Brunzell & Deeb 2001, Deeb 2009]. Compared to LPL deficiency, apoCIII deficiency, LMF1 deficiency and GPIHBP1 deficiency are very rare, as are deletions and duplications in APOA5, which encodes apo5.

  • Familial apolipoprotein C-II (apoC-II) deficiency. Apolipoprotein C-II is a cofactor for lipoprotein lipase. Familial apolipoprotein C-II deficiency is an extremely rare autosomal recessive disorder that differs from familial LPL deficiency in that (1) symptoms generally develop at a later age (13-60 years) and (2) individuals may develop chronic pancreatic insufficiency with steatorrhea and insulin-dependent diabetes mellitus. The diagnosis is based on assay of plasma apo C-II concentration or activation of a purified LPL standard and on gel electrophoresis of VLDL apolipoproteins. Infusion of normal plasma into an individual with familial apolipoprotein C-II deficiency results in dramatic reduction of the plasma triglyceride concentration. Treatment is a low-fat diet throughout life. Apolipoprotein C-II is encoded by APOA2C.
  • Familial lipase maturation factor 1 (LMF1) deficiency. LMF1 is a transmembrane protein localized to the endoplasmic reticulum involved in the maturation of both LPL and hepatic lipase. One patient, homozygous for a pathogenic variant, has very low LPL activity, modestly low hepatic lipase activity, and chylomicronemia [Péterfy et al 2007].
  • Familial glycosylphosphatidylinositol-anchored HDL-binding protein 1 (GPIHBP1) deficiency. GPIHBP1 appears to be a binding site for LPL on the capillary endothelial surface, perhaps through binding with apoAV [Beigneux et al 2007]. Several individuals with GPIHBP1 deficiency have been described.
  • Familial apolipoprotein A-V (apoA5) deficiency. It has been suggested that apoA5 facilitates the interaction of endothelial heparan sulfate with apoCII on triglyceride-rich lipoproteins and the interaction of apoCII with LPL on the vascular endothelium. Several families with apoA5 deficiency have been reported to have severe hypertriglyceridemia. These defects may be more prevalent among Asians [Pullinger et al 2008].


Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with familial lipoprotein lipase (LPL) deficiency, measurement of plasma triglyceride concentration is recommended.

Treatment of Manifestations

Medical nutrition therapy. Morbidity and mortality can be prevented by maintaining plasma triglyceride concentration at less than 2000 mg/dL. A good clinical goal is less than 1000 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 and to keep the individual with familial LPL deficiency free of symptoms.

Medium-chain triglycerides may be used for cooking, as they are absorbed directly into the portal vein without becoming incorporated into chylomicron triglyceride.

The success of therapy depends on the individual's acceptance of the fat restriction, including both unsaturated and saturated fat. Note: Fish oil supplements, which are effective in disorders of excess hepatic triglyceride production, are not effective in LPL deficiency and are contraindicated.

The enlarged liver and spleen can return to normal size within one week of lowering of triglyceride concentrations.

The xanthomas can clear over the course of weeks to months. Recurrent or persistent eruptive xanthomas indicate inadequate therapy.

Pancreatitis associated with the chylomicronemia syndrome is treated in the manner typical for other forms of pancreatitis.

  • Discontinuation of oral intake stops chylomicron triglyceride formation, and replacement with hypocaloric parenteral nutrition decreases VLDL triglyceride production.
  • Administration of excess calories, as in hyperalimentation, is contraindicated in the acute state. The intravenous administration of lipid emulsions may lead to persistent or recurrent pancreatitis.

If recurrent pancreatitis with severe hypertriglyceridemia occurs, total dietary fat intake needs to be reduced.

Prevention of Primary Manifestations

Medical nutrition therapy. Maintaining the plasma triglyceride concentration at less than 2000 mg/dL keeps the individual with familial LPL deficiency free of symptoms. This can be accomplished by restriction of dietary fat to no more than 20 g/day or 15% of total energy intake.

Prevention of Secondary Complications

Prevention of acute recurrent pancreatitis decreases the risk of development of diabetes mellitus. Fat malabsorption is very rare.


Plasma triglyceride levels need to be followed over time to evaluate the patient’s success in following the very low-fat dietary recommendations. When the triglyceride level is above 1000 mg/dL, the sample does not need to be fasting for this evaluation. Other components of the lipid profile do not need to be routinely measured.

Affected individuals who develop abdominal pain need to contact their physician.

Agents/Circumstances to Avoid

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

Fish oil supplements are contraindicated as they contribute to chylomicron levels.

Evaluation of Relatives at Risk

It is appropriate to measure plasma triglyceride concentration in at-risk sibs during infancy; early diagnosis and implementation of dietary fat intake restriction can prevent symptoms and related medical complications.

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

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 [Al-Shali et al 2002].

One woman with LPL deficiency delivered a normal child following a one-gram fat diet and treatment with gemfibrozil (600 mg 1x/day) [Tsai et al 2004]. 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.

Therapies Under Investigation

Investigations aimed at determining the feasibility of gene replacement therapy are underway [Nierman et al 2005]. Such studies remain strictly experimental at this time.

Search for access to information on clinical studies for a wide range of diseases and conditions.


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

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

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Familial LPL deficiency is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected individual are obligate heterozygotes and therefore carry a single copy of a pathogenic variant in LPL.
  • Heterozygotes (carriers) are asymptomatic but may have moderate hypertriglyceridemia and may be at mild risk for premature atherosclerosis.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3.
  • Heterozygotes (carriers) are asymptomatic but may have moderate hypertriglyceridemia and may be at mild risk for premature atherosclerosis.

Offspring of a proband. The offspring of an individual with familial lipoprotein lipase deficiency are obligate heterozygotes (carriers) for a pathogenic variant in LPL.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier.

Carrier Detection

Carrier testing is possible if the pathogenic variants in the family are known.

Related Genetic Counseling Issues

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

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal 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 carriers, or are at risk of being carriers.

Prenatal Testing and Preimplantation Genetic Diagnosis

Once the LPL pathogenic variants have been identified in an affected family member, prenatal testing and preimplantation genetic diagnosis for a pregnancy at increased risk for familial lipoprotein lipase deficiency are possible options.

Requests for prenatal testing for conditions which (like familial lipoprotein lipase deficiency) do not affect intellect and have effective treatment available are not common. Differences in perspective may exist among medical professionals and in families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Although most centers would consider decisions about prenatal testing to be the choice of the parents, discussion of these issues is appropriate. In practice, prenatal testing is rarely requested because of the availability of effective treatment.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Familial Lipoprotein Lipase Deficiency: Genes and Databases

GeneChromosome LocusProteinLocus SpecificHGMD
LPL8p21​.3Lipoprotein lipaselipoprotein lipase (LPL)LPL

Data are compiled from the following standard references: gene from HGNC; chromosome locus, locus name, critical region, complementation group from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B.

OMIM Entries for Familial Lipoprotein Lipase Deficiency (View All in OMIM)


Gene structure. LPL is 30 kb in length and contains ten exons, from which two mRNAs are transcribed because of alternative sites of polyadenylation. The vertebrate family of lipase genes includes LPL (encoding lipoprotein lipase [LPL]), LIPC (hepatic lipase [HL]), LIPG (endothelial lipase [EL]), and PNLIP (pancreatic lipase [PL]). These lipase genes have similar exon/intron boundaries and the encoded proteins have significant amino acid sequence similarity. The sequence of LPL is highly conserved among mammalian species.

Pathogenic allelic variants. More than 220 pathogenic variants have been identified [Brunzell & Deeb 2001, Gilbert et al 2001]. Approximately 70% of these variants are missense, 10% nonsense, 18% gene rearrangements, and 2% unknown. At least 28 pathogenic missense variants associated with markedly reduced or absent LPL activity have been described. Many missense variants result in LPL deficiency secondary to LPL homodimer instability. Five single base-pair substitutions causing stop codons have been noted. One involves residue 447 and may be associated with elevated LPL activity. In addition to the original individual with two major gene rearrangements, a 3-kb deletion involving exon 9 and four smaller insertion-deletion defects have been noted. An acceptor splice site defect and a donor splice site defect, both involving intron 2, have been reported. To date, very few LPL mutated alleles from studied individuals with classic familial lipoprotein lipase deficiency remain uncharacterized.

The insertion-deletion variants, the splice site defects, and the nonsense variants presumably lead to absent or truncated LPL protein with defective catalytic activity. Most of the variants are in the highly conserved central homology region [Brunzell & Deeb 2001, Gilbert et al 2001], involving LPL exons 4, 5, and 6. The two variants at residue 156 involve aspartic acid of the catalytic triad. Many of the variants change hydrophobic residues to ones that are less so, particularly those involving residues 142, 157, 176, 188, 194, 205, and 225. Some are part of beta-sheet strands (residues 154, 204, 205, and 207) and some involve alpha-helical structures (residues 136, 139, 142, 243, 244, 250, and 251). In addition to the structural variants, regulatory variants of the LPL promoter have been identified.

Normal gene product. Lipoprotein lipase 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 VLDL 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, which contains the catalytic triad, specifies the catalytic properties of the lipase, whereas the COOH-terminal domain specifies substrate specificity and heparin-binding properties. The protein is 448 amino acids.

Abnormal gene product. In individuals with pathogenic missense variants, catalytically inactive protein can sometimes be found in post-heparin plasma. However, since the defective protein is unstable, protein mass is usually absent and LPL activity is deficient [Peterson et al 2002].


Literature Cited

  1. Al-Shali K, Wang J, Fellows F, Huff MW, Wolfe BM, Hegele RA. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase. Clin Biochem. 2002;35:125–30. [PubMed: 11983347]
  2. Beigneux AP, Davies BS, Gin P, Weinstein MM, Farber E, Qiao X, Peale F, Bunting S, Walzem RL, Wong JS, Blaner WS, Ding ZM, Melford K, Wongsiriroj N, Shu X, de Sauvage F, Ryan RO, Fong LG, Bensadoun A, Young SG. Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. Cell Metab. 2007;5:279–91. [PMC free article: PMC1913910] [PubMed: 17403372]
  3. Brunzell JD, Deeb SS. Familial lipoprotein lipase deficiency, apo CII deficiency and hepatic lipase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. New York, NY: McGraw-Hill; 2001:2789-816.
  4. Deeb SS. Association of variants in lipase genes with lipid levels and coronary artery disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G, eds. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). New York, NY: McGraw-Hill. Chap 117S. Available online. 2009. Accessed 5-3-16.
  5. Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P, Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6. Ann Genet. 2001;44:25–32. [PubMed: 11334614]
  6. Kawashiri MA, Higashikata T, Mizuno M, Takata M, Katsuda S, Miwa K, Nozue T, Nohara A, Inazu A, Kobayashi J, Koizumi J, Mabuchi H. Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. J Clin Endocrinol Metab. 2005;90:6541–4. [PubMed: 16174715]
  7. Nierman MC, Rip J, Twisk J, Meulenberg JJ, Kastelein JJ, Stroes ES, Kuivenhoven JA. Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice. Neth J Med. 2005;63:14–9. [PubMed: 15719847]
  8. Péterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Nat Genet. 2007;39:1483–7. [PubMed: 17994020]
  9. Peterson J, Ayyobi AF, Ma Y, Henderson H, Reina M, Deeb SS, Santamarina-Fojo S, Hayden MR, Brunzell JD. Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene. J Lipid Res. 2002;43:398–406. [PubMed: 11893776]
  10. Pullinger CR, Aouizerat BE, Movsesyan I, Durlach V, Sijbrands EJ, Nakajima K, Poon A, Dallinga-Thie GM, Hattori H, Green LL, Kwok PY, Havel RJ, Frost PH, Malloy MJ, Kane JP. An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients. J Lipid Res. 2008;49:1846–54. [PMC free article: PMC2444008] [PubMed: 18441017]
  11. Tsai EC, Brown JA, Veldee MY, Anderson GJ, Chait A, Brunzell JD. Potential of essential fatty acid deficiency with extremely low fat diet in lipoprotein lipase deficiency during pregnancy: A case report. BMC Pregnancy Childbirth. 2004;4:27. [PMC free article: PMC544881] [PubMed: 15610556]

Chapter Notes

Revision History

  • 15 December 2011 (me) Comprehensive update posted live
  • 28 July 2009 (me) Comprehensive update posted live
  • 1 October 2007 (cd) Revision: deletion/duplication analysis available; prenatal testing available; mutation analysis for p.Gly188Glu done by sequence analysis
  • 24 April 2006 (me) Comprehensive update posted to live Web site
  • 9 April 2004 (me) Comprehensive update posted to live Web site
  • 18 February 2002 (me) Comprehensive update posted to live Web site
  • 12 October 1999 (me) Review posted to live Web site
  • April 1999 (jb) Original submission
Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source ( and copyright (© 1993-2017 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Bookshelf ID: NBK1308PMID: 20301485


  • PubReader
  • Print View
  • Cite this Page
  • Disable Glossary Links

Tests in GTR by Condition

Related information

  • MedGen
    Related information in MedGen
  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed
  • Gene
    Locus Links

Similar articles in PubMed

See reviews...See all...

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...