Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lipoprotein lipase is a key enzyme in hydrolysis of triglyceride and exchange of lipids between lipoproteins in circulation. It has also been found for lipoprotein lipase to play key roles in number of pathophysiological conditions. Over hundred different lipoprotein lipase gene variants have been described in the literature. Lipoprotein lipase gene has been observed as a key factor involved in the pathogenesis of hypertriglyceridemia, coronary heart disease and pancreatitis. In Croatian population the following gene variants have been described: -93T/G, D9N, V108V, N291S, S447X, Pvu II i Hind III. The most important finding was the first mutation W86R which caused familial hypertriglyceridemia. The investigation of mutations and polymorphisms may open the new directions for molecular diagnostics of hypertriglyceridemia and help us recognize the new mutations. Differential diagnosis of hypertriglyceridemia and medical practice involved in their prevention and treatment may be improved by knowing the frequency of lipoprotein lipase gene variants as well as their influence on lipid profile.
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PMID:[Lipoprotein lipase--physiological and pathophysiological roles of this gene variant in Croatian population]. 1748 16

Hypertriglyceridemia is a risk factor for atherosclerotic coronary heart disease. Very high triglyceride (TG) levels (> or =500 mg/dl [5.65 mmol/l]) increase the risk of pancreatitis. One therapeutic option to lower TG levels is omega-3 fatty acids, which are derived from the oil of fish and other seafood. The American Heart Association has acknowledged that fish oils may decrease dysrhythmias, decrease sudden death, decrease the rate of atherosclerosis and slightly lower blood pressure, and has recommended fish consumption or fish oil supplementation as a therapeutic strategy to reduce cardiovascular disease. A prescription omega-3-acid ethyl esters (P-OM3) preparation has been available in many European nations for at least a decade, and was approved by the US FDA in 2004 to reduce very high TG levels (> or =500 mg/dl [5.65 mmol/l]). Mechanistically, most evidence suggests that omega-3 fatty acids reduce the synthesis and secretion of very-low-density lipoprotein (VLDL) particles, and increase TG removal from VLDL and chylomicron particles through the upregulation of enzymes, such as lipoprotein lipase. Omega-3 fatty acids differ mechanistically from other lipid-altering drugs, which helps to explain why therapies such as P-OM3 have complementary mechanisms of action and, thus, complementary lipid benefits when administered with statins. Additional human studies are needed to define more clearly the cellular and molecular basis for the TG-lowering effects of omega-3 fatty acids and their favorable cardiovascular effects, particularly in patients with hypertriglyceridemia.
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PMID:Prescription omega-3 fatty acids and their lipid effects: physiologic mechanisms of action and clinical implications. 1832 98

Chronic and excessive consumption of alcohol is an important factor responsible for the onset of pancreatitis. However, the incidence of chronic pancreatitis in heavy drinkers differs in individuals, suggesting that these individual differences may involve various genetic and environmental factors. In the present study, we investigated an association of alcoholic pancreatitis with polymorphisms of the various genes related to metabolism of the oxidative compounds. We analyzed polymorphisms of NADPH-quinone oxidoreductase 2 (NQO2), multidrug resistance 1 (MDR1), alcohol dehydrogenase 1B (ADH1B) and lipoprotein lipase (LPL). The subjects consisted of 53 patients with chronic alcoholic pancreatitis (AlCP), 54 alcoholic patients without pancreatic dysfunction (Alc), and 42 healthy individuals. DNA samples were prepared from the peripheral blood of all subjects, and the genetic mutations were analyzed by polymerase chain reaction and restriction fragment length polymorphism methods. The ADH1B gene frequencies were significantly different between healthy controls and Alc patients (P < 0.001), and also between AlCP and Alc patients (P < 0.05). However, no significant difference was found between healthy controls and AlCP patients. The gene frequencies of MDR1 (3435C > T) and MDR1 (2677G > A/T) of patients with AlCP or Alc were different when compared with healthy controls, although the difference was not significant. The NQO2 and LPL genes showed no relation with Alc and AlCP patients. The ADH1B*1 gene frequency in AlCP was significantly lower compared with Alc. We speculate that the ADH1B*1 gene may function by reducing vulnerability to the onset of alcoholic pancreatitis. Other genes analyzed in the present study lacked association with AlCP.
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PMID:Association analysis among polymorphisms of the various genes and chronic alcoholic pancreatitis. 1833 68

Regardless of the fact, that pancreatitis during pregnancy is rare; this disease is characterized by high indices of maternal and perinatal mortality. Among variety of etiological and pathogenetic aspects of pregnant women's acute pancreatitis, leading role in its development belongs to bile-excreting system diseases, conditioned by physiological processes in women's organism during gestational period. Also there is a genetic theory of acute pancreatitis genesis in pregnant women, based on dislipoproteinemia development caused by lipoprotein lipase insufficiency, when severity of pancreatitis course is correlated with morphotype of this enzyme gene mutation. Chronic pancreatitis is conditioned by the same causes and can develop and recur during pregnancy and right after parturition. Diagnostics of pregnant women's pancreatitis is complicated because of limitation of the use of some methods (radiation and endoscopic). Pancreatitis clinical course does not differ from the one in nonpregnant women and is manifested by pain abdominal and dyspeptic syndromes, and also by syndromes of exocrine and endocrine pancreatic insufficiency. The main clinical feature of pregnant women's pancreatitis is high occurrence of painless forms. Approaches to treatment include pain relief disintoxication, use of pancreatic secretion blockers, multienzyme complexes, glycemia correction.
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PMID:[Pancreatitis in pregnant women]. 1872 Jul 7

Plasmapheresis for the treatment of hypertriglyceridemia has previously been performed in patients with sudden onset severe hypertriglyceridemia and acute pancreatitis; however, only a few reports of this procedure have been published. We report here on a case showing severe hypertriglyceridemia during asparaginase (Asp) treatment for acute lymphocytic leukemia (ALL), and give an overview of a lipid-lowering apheresis therapy. To prevent the complication of pancreatitis due to hypertriglyceridemia, we performed plasma exchange (PE) three times using fresh frozen plasma. PE remarkably reduced both serum triglyceride and total cholesterol levels from 5430 mg/dL to 403 mg/dL and from 623 mg/dL to 204 mg/dL, respectively. The causes of severe hyperlipidemia in this patient were considered to include: the Asp treatment for ALL, and a genetic background with a heterozygote of familial lipoprotein lipase (LPL) defect syndrome, because the patient's plasma LPL level after intravenous heparin injection was low at 137 ng/mL. Hence, PE using fresh frozen plasma may be useful not only to remove lipoproteins, but also to supply defective factors, such as LPL, in similar cases.
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PMID:A case report of an adult with severe hyperlipidemia during acute lymphocytic leukemia induction therapy successfully treated with plasmapheresis. 1914 Aug 51

Hypertriglyceridemia is one of the known causes of pancreatitis. Estrogen treatment can aggravate hypertriglyceridemia by increasing very low density lipoprotein secretion and reducing hepatic triglyceride lipase. In this paper, we present 3 patients who developed severe hypertriglyceridemia with conditions that increased estrogen. Two patients were found to have genetic lipoprotein lipase deficiency and were treated with birth control pills. The third was a patient with polycystic ovary disease who was receiving ovulation induction therapy for in vitro fertilization.
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PMID:Hypertriglyceridemia-induced pancreatitis created by oral estrogen and in vitro fertilization ovulation induction. 1919 Jul 17

Hypertriglyceridemia is the etiology of acute nonbiliary pancreatitis in up to 3% of patients. Along with the supportive treatment of acute pancreatitis, treating the precipitating cause is important as well. There have been reports where heparin and insulin have been used for acute reduction of triglycerides, although there are no established guidelines for efficacy of these modalities. Heparin and insulin decrease triglycerides by stimulating lipoprotein lipase activity, which degrades triglycerides into fatty acids and glycerol. We present a case where a 54-year-old male presented with hypertriglyceridemia-induced acute pancreatitis. The serum triglyceride level was 10,320 mg/dl (normal: 0-15 mg/dl) at the time of admission. We started the patient on intravenous insulin and heparin infusion, and within 24 h of induction of treatment, the levels decreased by 50% to 5407 mg/dl. Thus, heparin and insulin can be considered a safe treatment modality for rapidly reducing triglyceride levels.
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PMID:Heparin and insulin for hypertriglyceridemia-induced pancreatitis: case report. 1988 92

Amsterdam Molecular Therapeutics BV is developing alipogene tiparvovec (Glybera, AMT-011, AAV1-LPLS447X), a Ser(447)X variant of the human lipoprotein lipase (LPL) gene (LPLSer(447)X) in an adeno-associated virus vector, as a potential intramuscular gene therapy for the treatment of LPL deficiency. Familial LPL deficiency is a rare, autosomal-recessive disorder of lipoprotein metabolism that is characterized by severe hypertriglyceridemia with episodes of abdominal pain, acute pancreatitis and eruptive cutaneous xanthomatosis. The lack of functional LPL in patients with LPL deficiency causes an accumulation of triglyceride (TG)-rich lipoproteins in the plasma. The LPLSer(447)X variant is associated with decreased levels of plasma TGs and increased HDL cholesterol concentrations compared with wild-type LPL. Preclinical studies evaluating alipogene tiparvovec in a mouse model of LPL deficiency demonstrated a long-term, dose-dependent correction of the lipid abnormalities. The first clinical trials in patients with LPL deficiency appear promising, with a significant decrease in the levels of plasma TGs observed in the first 3 months following the administration of alipogene tiparvovec, and an increase in local LPL activity and protein levels observed after 6 months. In addition, a decrease in pancreatitis frequency was observed during a 3-year follow-up period. At the time of publication, a phase II/III trial in patients with LPL deficiency, being conducted to further support the submission of an MAA to the EMEA for alipogene tiparvovec, was ongoing. The compound is also under investigation for the treatment of type V hyperlipoproteinemia, Syndrome X and non-alcoholic steatohepatitis.
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PMID:Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency. 2007 45

Alipogene tiparvovec (AAV1-LPL(S447X)) gene therapy is developed to prevent complications and decrease the clinical morbidity of lipoprotein lipase deficiency (LPLD). LPLD is an autosomal recessive disease associated with severe hypertriglyceridemia (hyperTG), severe chylomicronaemia, and low HDL. Acute pancreatitis, the most frequent serious clinical LPLD complication, is a complex and heterogeneous inflammatory condition having many causes including hyperTG and chylomicronaemia. In many patients, low fat diet and currently available lipid lowering drugs are ineffective to prevent hyperTG or pancreatitis in LPLD. The clinical development program of alipogene tiparvovec includes observational studies as well as phase I/II and II/III clinical trials. Pooled data are collected on safety and efficacy issues, including the incidence of pancreatitis.
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PMID:Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency. 2042 44

Heparin and/or insulin stimulate lipoprotein lipase and are known to decrease serum triglyceride level. However, their efficacy in hypertriglyceridemia-induced acute pancreatitis in nondiabetic patients is not well documented. We report a case of hypertriglyceridemia-induced pancreatitis in 43-year-old nondiabetic woman in whom treatment with insulin was accompanied by reduction in serum triglyceride level and the resolution of pancreatitis. She presented to the emergency department with abdominal pain and biochemical evidence of acute pancreatitis. Her medical history was unremarkable. There was no history of alcohol consumption, and biliary imaging was not remarkable. Subsequent laboratory investigation revealed marked hypertriglyceridemia (1,951 mg/dL), impaired fasting glucose, and normal HbAlc level. The Ransons score and APATCH II score were 1 and 4. Abdominal CT showed diffuse enlargement of pancreas, peripancreatic fat infiltration, and multiple fluid collections around the pancreas. We treated the patient with the infusion of 5% dextrose and 1.5 unit/hr regular insulin to reduce serum triglyceride level. The level of serum triglyceride was decreased to 305 mg/dL on day 5. During the remainder of hospitalization, her clinical symptoms and laboratory values gradually improved.
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PMID:[Hypertriglyceridemia-induced pancreatitis treated with insulin in a nondiabetic patient]. 2057 9


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