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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.
 
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.
Fat malabsorption
MedGen UID:
108215
Concept ID:
C0554103
Pathologic Function
Abnormality of the absorption of fat from the gastrointestinal tract.
Hypocholesterolemia
MedGen UID:
57479
Concept ID:
C0151718
Disease or Syndrome
An decreased concentration of cholesterol in the blood.
Elevated sweat chloride
MedGen UID:
347278
Concept ID:
C1856646
Finding
An increased concentration of chloride in the sweat.

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

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
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
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

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
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
Valaiyapathi B, Ashraf AP
Curr Pediatr Rev 2017;13(4):225-231. doi: 10.2174/1573400514666180117092707. PMID: 29345595
Gaudet D, Méthot J, Kastelein J
Curr Opin Lipidol 2012 Aug;23(4):310-20. doi: 10.1097/MOL.0b013e3283555a7e. PMID: 22691709
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896

Diagnosis

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
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
Falko JM
Endocr Pract 2018 Aug;24(8):756-763. doi: 10.4158/EP-2018-0157. PMID: 30183397
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896
Ferrone M, Raimondo M, Scolapio JS
Pharmacotherapy 2007 Jun;27(6):910-20. doi: 10.1592/phco.27.6.910. PMID: 17542772

Therapy

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
Alkaade S, Vareedayah AA
Am J Manag Care 2017 Jul;23(12 Suppl):S203-S209. PMID: 28727474
Gaudet D, Méthot J, Kastelein J
Curr Opin Lipidol 2012 Aug;23(4):310-20. doi: 10.1097/MOL.0b013e3283555a7e. PMID: 22691709
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896
Ferrone M, Raimondo M, Scolapio JS
Pharmacotherapy 2007 Jun;27(6):910-20. doi: 10.1592/phco.27.6.910. PMID: 17542772

Prognosis

Ikezawa K, Urabe M, Kai Y, Takada R, Akita H, Nagata S, Ohkawa K
Jpn J Clin Oncol 2024 Mar 9;54(3):271-281. doi: 10.1093/jjco/hyad176. PMID: 38109477Free PMC Article
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
Stroes E, Moulin P, Parhofer KG, Rebours V, Löhr JM, Averna M
Atheroscler Suppl 2017 Jan;23:1-7. Epub 2016 Dec 18 doi: 10.1016/j.atherosclerosissup.2016.10.002. PMID: 27998715
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896
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

Xia Y, Zheng W, Du T, Gong Z, Liang L, Wang R, Yang Y, Zhang K, Lu D, Chen X, Sun Y, Sun Y, Xiao B, Qiu W
J Clin Lipidol 2023 Nov-Dec;17(6):808-817. Epub 2023 Sep 27 doi: 10.1016/j.jacl.2023.09.012. PMID: 37858495
Chandra D, Bsavaraju M, Mr R, Av A, R S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443366
Stroes E, Moulin P, Parhofer KG, Rebours V, Löhr JM, Averna M
Atheroscler Suppl 2017 Jan;23:1-7. Epub 2016 Dec 18 doi: 10.1016/j.atherosclerosissup.2016.10.002. PMID: 27998715
Gaudet D, Méthot J, Kastelein J
Curr Opin Lipidol 2012 Aug;23(4):310-20. doi: 10.1097/MOL.0b013e3283555a7e. PMID: 22691709
DiMagno MJ, DiMagno EP
Curr Opin Gastroenterol 2010 Sep;26(5):490-8. doi: 10.1097/MOG.0b013e32833d11b2. PMID: 20693896

Supplemental Content

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