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Pancreatic triacylglycerol lipase deficiency(PNLIPD)

MedGen UID:
482157
•Concept ID:
C3280527
•
Disease or Syndrome
Synonyms: LIPASE, CONGENITAL ABSENCE OF PANCREATIC; Pancreatic lipase deficiency; PL DEFICIENCY
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Gene (location): PNLIP (10q25.3)
 
Monarch Initiative: MONDO:0013700
OMIM®: 614338
Orphanet: ORPHA309031

Definition

Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980). [from OMIM]

Clinical features

From HPO
Steatorrhea
MedGen UID:
20948
•Concept ID:
C0038238
•
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
See: Feature record | Search on this feature
Fat malabsorption
MedGen UID:
108215
•Concept ID:
C0554103
•
Pathologic Function
Abnormality of the absorption of fat from the gastrointestinal tract.
See: Feature record | Search on this feature
Hypocholesterolemia
MedGen UID:
57479
•Concept ID:
C0151718
•
Disease or Syndrome
An decreased concentration of cholesterol in the blood.
See: Feature record | Search on this feature
Elevated sweat chloride
MedGen UID:
347278
•Concept ID:
C1856646
•
Finding
An increased concentration of chloride in the sweat.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPancreatic triacylglycerol lipase deficiency
Follow this link to review classifications for Pancreatic triacylglycerol lipase deficiency in Orphanet.

Professional guidelines

PubMed

The role of genetic testing in dyslipidaemia.
Berberich AJ, Hegele RA
Pathology 2019 Feb;51(2):184-192. Epub 2018 Dec 14 doi: 10.1016/j.pathol.2018.10.014. PMID: 30558903
Demystifying the management of hypertriglyceridaemia.
Watts GF, Ooi EM, Chan DC
Nat Rev Cardiol 2013 Nov;10(11):648-61. Epub 2013 Sep 24 doi: 10.1038/nrcardio.2013.140. PMID: 24060958
Diagnosis and treatment of severe hypertriglyceridemia.
Viljoen A, Wierzbicki AS
Expert Rev Cardiovasc Ther 2012 Apr;10(4):505-14. doi: 10.1586/erc.12.21. PMID: 22458582

Recent clinical studies

Etiology

Lipoprotein Lipase Deficiency.
Kuthiroly S, Yesodharan D, Radhakrishnan N, Ganapathy A, Mannan AU, Hoffmann MM, Nampoothiri S
Indian J Pediatr 2021 Feb;88(2):147-153. Epub 2020 May 30 doi: 10.1007/s12098-020-03305-z. PMID: 32472350
Phase II Open-Label Study of Pembrolizumab in Treatment-Refractory, Microsatellite Instability-High/Mismatch Repair-Deficient Metastatic Colorectal Cancer: KEYNOTE-164.
Le DT, Kim TW, Van Cutsem E, Geva R, Jäger D, Hara H, Burge M, O'Neil B, Kavan P, Yoshino T, Guimbaud R, Taniguchi H, Elez E, Al-Batran SE, Boland PM, Crocenzi T, Atreya CE, Cui Y, Dai T, Marinello P, Diaz LA Jr, André T
J Clin Oncol 2020 Jan 1;38(1):11-19. Epub 2019 Nov 14 doi: 10.1200/JCO.19.02107. PMID: 31725351Free PMC Article
Hospital Management of Severe Hypertriglyceridemia in Children.
Valaiyapathi B, Ashraf AP
Curr Pediatr Rev 2017;13(4):225-231. doi: 10.2174/1573400514666180117092707. PMID: 29345595
Chronic pancreatitis.
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896
Primary hyperlipidaemia.
Thompson GR
Br Med Bull 1990 Oct;46(4):986-1004. doi: 10.1093/oxfordjournals.bmb.a072449. PMID: 2100694

Diagnosis

Lipoprotein Lipase Deficiency.
Kuthiroly S, Yesodharan D, Radhakrishnan N, Ganapathy A, Mannan AU, Hoffmann MM, Nampoothiri S
Indian J Pediatr 2021 Feb;88(2):147-153. Epub 2020 May 30 doi: 10.1007/s12098-020-03305-z. PMID: 32472350
The role of genetic testing in dyslipidaemia.
Berberich AJ, Hegele RA
Pathology 2019 Feb;51(2):184-192. Epub 2018 Dec 14 doi: 10.1016/j.pathol.2018.10.014. PMID: 30558903
Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.
Falko JM
Endocr Pract 2018 Aug;24(8):756-763. doi: 10.4158/EP-2018-0157. PMID: 30183397
Chronic pancreatitis.
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896
Pancreatic enzyme pharmacotherapy.
Ferrone M, Raimondo M, Scolapio JS
Pharmacotherapy 2007 Jun;27(6):910-20. doi: 10.1592/phco.27.6.910. PMID: 17542772

Therapy

Phase II Open-Label Study of Pembrolizumab in Treatment-Refractory, Microsatellite Instability-High/Mismatch Repair-Deficient Metastatic Colorectal Cancer: KEYNOTE-164.
Le DT, Kim TW, Van Cutsem E, Geva R, Jäger D, Hara H, Burge M, O'Neil B, Kavan P, Yoshino T, Guimbaud R, Taniguchi H, Elez E, Al-Batran SE, Boland PM, Crocenzi T, Atreya CE, Cui Y, Dai T, Marinello P, Diaz LA Jr, André T
J Clin Oncol 2020 Jan 1;38(1):11-19. Epub 2019 Nov 14 doi: 10.1200/JCO.19.02107. PMID: 31725351Free PMC Article
Gene therapy for lipoprotein lipase deficiency.
Gaudet D, Méthot J, Kastelein J
Curr Opin Lipidol 2012 Aug;23(4):310-20. doi: 10.1097/MOL.0b013e3283555a7e. PMID: 22691709
Chronic pancreatitis.
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896
Pancreatic enzyme pharmacotherapy.
Ferrone M, Raimondo M, Scolapio JS
Pharmacotherapy 2007 Jun;27(6):910-20. doi: 10.1592/phco.27.6.910. PMID: 17542772
Pancreatic enzyme replacement therapy.
Layer P, Keller J, Lankisch PG
Curr Gastroenterol Rep 2001 Apr;3(2):101-8. doi: 10.1007/s11894-001-0005-8. PMID: 11276376

Prognosis

Molecular and functional characterization of familial chylomicronemia syndrome.
Teramoto R, Tada H, Kawashiri MA, Nohara A, Nakahashi T, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K
Atherosclerosis 2018 Feb;269:272-278. Epub 2017 Nov 14 doi: 10.1016/j.atherosclerosis.2017.11.006. PMID: 29153744
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.
Steinhagen-Thiessen E, Stroes E, Soran H, Johnson C, Moulin P, Iotti G, Zibellini M, Ossenkoppele B, Dippel M, Averna MR; GENIALL Investigators
Atherosclerosis 2017 Jul;262:146-153. Epub 2016 Aug 21 doi: 10.1016/j.atherosclerosis.2016.08.023. PMID: 28284702
Chronic pancreatitis.
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896
Prevalence of vitamin K and vitamin D deficiency in patients with hepatobiliary and pancreatic disorders.
Fisher L, Byrnes E, Fisher AA
Nutr Res 2009 Sep;29(9):676-83. doi: 10.1016/j.nutres.2009.09.001. PMID: 19854384
Clinical laboratory assessment of acute pancreatitis.
Al-Bahrani AZ, Ammori BJ
Clin Chim Acta 2005 Dec;362(1-2):26-48. Epub 2005 Jul 18 doi: 10.1016/j.cccn.2005.06.008. PMID: 16024009

Clinical prediction guides

Serum Amylase and Lipase Estimation in Diabetic Ketoacidosis.
Chandra D, Bsavaraju M, Mr R, Av A, R S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443366
Molecular and functional characterization of familial chylomicronemia syndrome.
Teramoto R, Tada H, Kawashiri MA, Nohara A, Nakahashi T, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K
Atherosclerosis 2018 Feb;269:272-278. Epub 2017 Nov 14 doi: 10.1016/j.atherosclerosis.2017.11.006. PMID: 29153744
Gene therapy for lipoprotein lipase deficiency.
Gaudet D, Méthot J, Kastelein J
Curr Opin Lipidol 2012 Aug;23(4):310-20. doi: 10.1097/MOL.0b013e3283555a7e. PMID: 22691709
Chronic pancreatitis.
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896
Clinical laboratory assessment of acute pancreatitis.
Al-Bahrani AZ, Ammori BJ
Clin Chim Acta 2005 Dec;362(1-2):26-48. Epub 2005 Jul 18 doi: 10.1016/j.cccn.2005.06.008. PMID: 16024009

Supplemental Content

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    • ClinVar
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      Related information in GTR
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      Clinical tests in GTR
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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