Lipoprotein lipase deficiency presenting with neonatal perianal abscesses

Abstract

Lipoprotein lipase (LPL), a member of the triglyceride lipase gene family, is synthesised by parenchymal cells of the heart, skeletal muscle and adipose tissues before being transported to luminal surfaces of vascular endothelial cells to exert its main physiological function to hydrolyse plasma lipoproteins. LPL deficiency is a rare autosomal recessive disorder, resulting in severe hypertriglyceridaemia from birth. The effect of marked hypertriglyceridaemia on the immune function in children has not been described.

We present a case of a neonate with LPL deficiency and grossly elevated plasma triglyceride levels, presenting with recurrent and recalcitrant perianal abscesses suggestive of underlying immunodeficiency. With reduced levels of plasma triglycerides, the recurrent perianal infections resolved.

This case report reviews evidence for potential deleterious effects of hypertriglyceridaemia on immune function, however, underlying mechanisms are poorly understood. Whether hypertriglyceridaemia contributes to immune dysfunction in this context is unknown. If there is a pathophysiological link, this may have implications for hypertriglyceridaemia management.

PMID:

26825936

DOI:

10.1136/bcr-2015-212587

BMJ Case Rep. 2016 Jan 29;2016. pii: bcr2015212587. doi: 10.1136/bcr-2015-212587.

The utility of amylase and lipase as reliable predictive markers for functioning renal graft.

Abstract


Background: The aim of this study was to evaluate the utility of amylase and lipase as reliable predictive markers for functioning renal grafts, either short- or long-term.

Material/Methods: Serum amylase (Amyl), lipase, creatinine (Cr), creatinine clearance (Cr Cl) and 24-hr proteinuria (Prot) were studied in 190 kidney recipients. The correlation of these outcomes for each parameter was tested. Sensitivity and specificity of the variables were obtained in patients with graft failure (GF) and acute cellular rejection (ACR). Results: Mean follow-up was 66.7 month.

Amylase and lipase were elevated 67% vs. 45% in GF (N=23); 60% vs. 44% in ACR (N=42) patients and were inversely correlated with Cr Cl (p>.05). Lipase was notably superior to amylase and creatinine; the specificity of lipase (Amyl, Cr) was 87% (59%, 28%). Increases in amylase were more predictive in the presence of mild or moderate kidney failure (33% and 52%, respectively). However, the highest intensity of lipase elevation (39%) was in advanced kidney failure (Cr Cl <30 min="min" ml="ml">
Conclusions: Serum amylase and lipase should be used as markers monitoring graft function. For early detection of graft dysfunction, amylase seems to be superior to lipase

Royal College of Surgeons in Ireland, Dublin, Ireland.
-Annual Transplant. 2012 Sep 26;17(3):77-84

ENZYMES INDIGENOUS TO MILK | Lipases and Esterases

Abstract
Bovine milk contains a native lipoprotein lipase (LPL) that preferentially acts on emulsified substrates at water–oil interfaces and several esterases that preferentially act on soluble ester substrates. The lipase is by far the most abundant, most studied, best characterized, and of most practical significance. It is synthesized in the mammary gland and transported to the milk where, under certain circumstances, it catalyzes the hydrolysis of triacylglycerols to free fatty acids and mono- and diacylglycerols. It is mostly bound to the casein micelles but can move to the milk fat globule membrane under conditions that induce lipolysis of the globular fat. It is a glycoprotein of molecular mass 100 kDa and requires lipoproteins or apolipoproteins for full activity. By contrast, the esterases in milk are not well characterized. They are present in low concentrations except in abnormal milks such as colostrum and mastitic milks. The types reported include arylesterases, carboxylesterases, and cholinesterases. They seem to have no significant technological importance in milk. Human milk contains a relatively high concentration of a bile salt-stimulated lipase, in addition to LPL, which does not appear to be present in bovine milk. It has a role in the digestion of milk fat in neonates.

Encyclopedia of Dairy Sciences (Second Edition)
Pages 304-307

White and green tea polyphenols inhibit pancreatic lipase in vitro

Abstract
Green, white and black teas were assayed for inhibition of pancreatic lipase activity in vitro. White tea proved to be more effective than green tea with black tea showing little inhibition even at 200 μg GAE/ml. The EC50 values for inhibition were 22 μg/ml for white tea and 35 μg/ml for green tea; both easily achievable from normal infusions of tea. Liquid chromatography-mass spectroscopy analysis showed that white and green teas had essentially equal amounts of flavan-3-ols but green tea had higher levels of flavonols. White tea had higher levels of 5-galloyl quinic acid, digalloyl glucose, trigalloyl glucose and the tannin, strictinin.

After chromatography on Sephadex LH-20, the main inhibitory fraction was enriched in strictinin and fractions enriched in other components were ineffective. This suggests that strictinin content may be crucial for inhibition of pancreatic lipase. However, the possibility of synergies between the polyphenols cannot be disregarded.

Anais Gondoina, Dominic Grussua, Derek Stewarta and Gordon J. McDougall

Gut Wall Compromise in the Presence of Pancreatic Enzymes Causes Circulatory Shock

ABSTRACT

Pancreatic proteolytic enzymes (PEs) in the ischemic intestine play a central role in multisystem organ failure, which can be prevented by protease inhibition in the small intestine lumen. PEs, if allowed to circulate systemically may also result in shock. However, it is unclear whether enzyme liberation in an intestine with increased permeability alone leads to shock. To test this idea the non-ischemic rat small intestinal lumen was perfused for two hours with either (A) PEs, (B) interventions designed to increase lumenal permeability (N-acetylcysteine (NAC) + atropine + increased flow) or (C) both, and animals were observed for shock and organ failure. PEs perfused (Groups A and C) included trypsin, chymotrypsin, elastase, amylase and lipase at concentrations 2 log greater than baseline values. Group A (n=6) maintained baseline blood pressures as did other groups perfused with single enzymes alone. However all animals in Group C (n=6) developed hypotension, significant increases in gut permeability (p<0.001) and died (p<0.001). Group B (n=6) developed mild hypotension (NS) and increased gut permeability (p<0.05) compared to controls but there were no deaths. These experiments demonstrate for the first time that increased gut permeability in the presence of lumenal PEs is sufficient to induce shock. PEs, if allowed to penetrate the gut wall result in multiorgan failure and death. Supported by NIH Grant GM085072

Erik B. Kistler1,2 and Geert W. Schmid-Schonbein1
1 Department of Bioengineering
2 Department of Anesthesia, University of California, San Diego, San Diego, CA

Inhibition of Pancreatic Lipase and the Renin Angiotensin System Synergistically Decreases Body Fat

We have recently demonstrated that mice lacking renin are lean, and excrete more fat in the feces, which is associated with less than 20 % expression of pancreatic lipase and colipase. Treating wild type (WT) mice with an angiotensin receptor blocker losartan (ARB) or an angiotensin converting enzyme (ACE) inhibitor enalapril does not affect body weight, body fat, fecal fat excretion and pancreatic lipase expression, although their colipase expression in the pancreas is decreased to the low levels of the Ren1c–/– mice. Because colipase is necessary for activation of lipase, we hypothesized that inhibition of both pancreatic lipase and colipase by combination of ARB or ACE inhibitor and lipase inhibitor (orlistat) more effectively decreases body weight and body fat than either of them alone. Treating WT mice with both losartan (0.45g/L in drinking water) and orlistat (200 mg/kg diet) for two weeks reduced the body fat significantly more than mice treated with losartan alone or orlistat alone (control 12.5±1.42 %, losartan 8.7±1.9 %, orlistat 3.8±0.8 %, losartan + orlistat 0.2±2.5 %).

The fecal fat content in mice treated with losartan and orlistat is also significantly higher than that of mice treated with losartan alone or orlistat alone (control 46.1±6.2 mg/day, losartan 32.0±4.0 mg/day, orlistat 137.1±9.6 mg/day, losartan + orlistat 186.0±39.6 mg/day). We conclude that inhibiting pancreatic lipase and colipase by using combination of lipase inhibitor and ARB or ACE inhibitor is a promising treatment of the metabolic syndrome.

Feng Li; Nobuyuki Takahashi
Univ of North Carolina at CH, Chapel Hill, NC


This research has received full or partial funding support from the American Heart Association, Mid-Atlantic Affiliate (Maryland, North Carolina, South Carolina, Virginia & Washington, DC

A Study of Pancreatic Function among Subjects over Ninety Years of Age

Pancreatology 2009;9:240-244 (DOI: 10.1159/000212090)

Background: Among the various studies of pancreatic function in the elderly published so far, none have dealt with subjects over 90 years of age. The aim of this study was to examine pancreatic function in healthy individuals over 90 years old.

Methods: Sixty-eight healthy noninstitutionalized elderly persons, aged 91-104 years, with a mean age of 95 years, and 63 younger controls were studied. Pancreatic function was studied by determining fecal elastase 1 concentration. In addition to this test, we also measured serum amylase, pancreatic isoamylase and lipase in 53 of the 68 elderly subjects.

Results: All but 1 of the 68 elderly subjects had normal elastase 1 values; the one who did not had a value slightly below normal. No significant difference with controls was found.

Serum pancreatic enzymes were normal in almost all of the 53 elderly studied; 3 had a mild elevation only of amylase and 1 had a persistent elevation of amylase, pancreatic isoamylase and lipase. Conclusions: In subjects over 90 years of age, exocrine pancreatic function continues to be normal; if an impairment occurs, it is mild and not significant for digestion of food.

In addition, serum pancreatic enzymes remain within normal limits in the vast majority of cases.






Lucio Gulloa, Patrizia Simonia, Marina Miglioria, Laura Lucrezioa, Michela Bassia, Franca Fraua, Pier Lorenzo Costaa, Vincenzo Nesticòb

aInstitute of Internal Medicine, University of Bologna, St. Orsola Hospital, Bologna, and
bInstitute of Internal Medicine, Civile Hospital, Catanzaro, Italy


Address of Corresponding Author