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)

A study of the relatives of a patient with apolipoprotein C-II deficiency showed that the defect is inherited as an autosomal recessive trait. The kindred studied originated from an isolated population in which considerable inbreeding has occurred for 140 years. Seven homozygotes had marked fasting chylomicronemia and triglyceridemia, and lacked detectable apolipoprotein C-II by several assay methods. Five homozygotes had experienced one to many attacks of pancreatitis from as early as six years of age. Obligate heterozygotes had apolipoprotein C-II concentrations about 30 to 50 per cent of normal values and had normal plasma triglyceride concentrations. This metabolic defect should be considered in patients with markedly elevated plasma triglycerides who have apparent lipoprotein lipase deficiency, and usually also have pancreatitis.
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PMID:Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. 21 19

Hypertriglyceridaemia, as defined by fasting triglyceride levels of greater than 2.8 mmol l-1, is a prevalent dyslipoproteinaemia in our population. The underlying pathophysiological mechanisms that result in elevations of plasma triglycerides are heterogeneous and, in most cases, incompletely understood. However, in a subset of patients presenting with this lipid disorder, the biochemical and genetic defects that lead to hypertriglyceridaemia have been well characterized. These individuals present with the familial chylomicronaemia syndrome, a rare genetic disorder that is inherited as an autosomal recessive trait, and is characterized by severe fasting hypertriglyceridaemia, massive accumulations of chylomicrons in plasma, and recurrent bouts of pancreatitis. The two major causes of the familial chylomicronaemia syndrome are a deficiency of the enzyme, lipoprotein lipase (LPL), or its cofactor, apolipoprotein (apo) C-II. Together, these two proteins initiate the hydrolysis of triglycerides present in chylomicrons and very low density lipoproteins. In the past decade our understanding of the underlying molecular defects that lead to familial chylomicronaemia has been greatly enhanced by the identification of mutations in the genes for LPL and apoC-II. Characterization of these defects has provided new insights into the structure and function of apoC-II and LPL and established the important role that these two proteins play in normal triglyceride metabolism.
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PMID:Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II. 161 90

Fibric acid derivatives (FADs) are a class of drugs that have been shown to reduce the production of very low-density lipoprotein (VLDL) while enhancing VLDL clearance due to the stimulation of lipoprotein lipase activity. The drugs can reduce plasma triglyceride levels while raising high-density lipoprotein (HDL) cholesterol levels. Their effects on low-density lipoprotein (LDL) cholesterol levels are less marked and more variable. There is evidence that oral gemfibrozil (Lopid, Parke-Davis, Morris Plains, NJ) can reduce the risk of serious coronary events, specifically in those patients who had elevations of both LDL cholesterol levels and total plasma triglyceride levels with lower HDL cholesterol levels. Newer FADs (bezafibrate, ciprofibrate, fenofibrate) have been shown to have greater efficacy in reducing LDL cholesterol than gemfibrozil but, in general, these drugs are not as effective as the other primary drugs used to lower LDL levels. The FADs are also used to treat adult patients with very high levels of triglycerides who have pancreatitis and whose disease cannot be managed with dietary therapy. The FADs are well tolerated, with dyspepsia and abdominal pain the most common adverse effects. A small risk of cholelithiasis exists with these drugs, and caution should be used when combining these drugs with HMG-CoA reductase inhibitors because the combination increases the incidence of hyperlipidemic myositis and rhabdomyolysis.
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PMID:Effects of gemfibrozil and other fibric acid derivatives on blood lipids and lipoproteins. 204 26

Defective lipoprotein lipase (LpL) was found in the postheparin plasma (PHP) of a patient with severe hypertriglyceridaemia. The patient was a 14-year-old girl with a maximum plasma triglyceride (TG) level of 3600 mg d-1 who had been suffering from recurrent pancreatitis. The patient's LpL purified from the PHP by heparin-Sepharose and phenyl-Sepharose chromatographies hydrolysed tributryrin, but not triolein emulsified with Triton X-100 and phosphatidylcholine (PC), or in chylomicrons, whereas normal LpL hydrolysed these substrates. Moreover, unlike normal LpL, LpL from the patient did not associate with VLDL, as shown by Sepharose 4B column chromatography. The patient's LpL hydrolysed triolein emulsified with lysophospholipid at a normal rate in the presence of apolipoprotein CII. These findings suggest that this patient has LpL with a normal catalytic site for tributyrin but with a defect in lipid interface recognition resulting in loss of ability to recognize VLDL or chylomicrons, but not of triolein emulsified with lysophospholipid.
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PMID:Lipoprotein lipase with a defect in lipid interface recognition in a case with type I hyperlipidaemia. 251 Oct 18

Serum lipase levels are much greater in cases of chronic alcoholics (without any marked symptom of pancreatitis) than in healthy subjects. In fact, about 43 p. cent of the studied samples from alcoholics exhibit a lipase activity above the reference interval (0-160 U/l). On the other hand, the lipase activity present in the serum of alcoholics exhibits different properties than lipoprotein lipase or post-heparin plasma lipase. Furthermore the enzyme from alcoholics presents similar properties to those of the serum lipase released in cases of pancreatitis mainly concerning the sensitivity versus colipase and biliary salt concentration. This similarity with the "pancreatitis" enzyme suggests a pancreatic disorder in number of cases of chronic alcoholics. Therefore, the authors think that serum lipase activity could be taken into account in the evaluation of the risk of any abnormality in the pancreatic function in all alcoholics.
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PMID:Lipase activity and properties in serum of chronic alcoholics. 318 69

We optimized a commercial turbidimetric method for lipase (EC 3.1.1.3) activity (Boehringer Mannheim Diagnostics) and overcame some of its deficiencies. Increasing the bile salt concentration to 35 mmol/L and the colipase concentration to 6 mg/L and using a continuous recording of the reaction-rate curve greatly improved the reaction kinetics, eliminated false results from increases in absorbance, reduced the lag phase, and increased the analytical sensitivity and accuracy. Differentiation of pancreatitis from nonpancreatitis sera by adding NaCl, 140 mmol/L, to the assay mixture to observe the degree of enzyme activation has important limitations. Sera from patients with pancreatitis and only slight or modest increases in lipase behave like sera from healthy individuals or from patients with nonpancreatic disease. The assay shows no interference by lipoprotein lipase and carboxyl esterase. Results compare well by this optimized method and by an optimized "pH-Stat" titrimetric method.
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PMID:Turbidimetric measurement of lipase activity--problems and some solutions. 362 61

Studies of simultaneous autologous 131I-chylomicron (Sf greater than 400) and 125I-very low density lipoprotein (VLDL) (Sf 20 to 400) apolipoprotein B (apo B) were performed both before (triglyceride level c 1500 mg/dL) and during treatment with stanozolol, a 17 alpha-methyl anabolic androgenic steroid (triglyceride level c 750 mg/dL) in a 74-year-old woman with a past history of recurrent chylomicronemic pancreatitis. Both before and during stanozolol treatment chylomicron apo B disappeared rapidly and directly, little appearing in VLDL and virtually none in intermediate (IDL) or low density lipoproteins (LDL). Multicompartmental analysis indicated that the great majority of chylomicron apo B was removed via an extremely rapid compartment (estimated fractional catabolic rate [FCR], 5.0/h), accounting for 66% before and 88% during stanozolol treatment. The remaining 131I-apo B decayed biphasically, with total Sf greater than 400 residence times of 8.6 hours before and 3.7 hours during stanozolol treatment. Hence, despite a moderately depressed adipose tissue lipoprotein lipase activity, the subject's hypertriglyceridemia did not appear to proceed solely from retarded chylomicron removal, nor was the dramatic decrease in triglyceride in response to stanozolol a function only of the acceleration of such removal. VLDL apo B kinetics were analyzed by a multicompartmental model featuring a rapid, stepwise delipidation chain which proceeds either rapidly to IDL and LDL or to a slowly turning over compartment within VLDL. While VLDL. apo B synthesis remained essentially constant, the major effect of stanozolol was a substantial reduction in the fraction of VLDL apo B diverted to this slowly turning over compartment, which decreased from 5.0% before to 1.2% during treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Chylomicron and very low-density lipoprotein apolipoprotein B metabolism: mechanism of the response to stanozolol in a patient with severe hypertriglyceridemia. 648 32

Type I hyperlipoproteinemia is a rare disorder characterized by the presence of chylomicrons in fasting plasma and dysfunction of the lipoprotein lipase system. The disease may result from primary genetic defects leading to the lack of the enzyme lipoprotein lipase or to a deficiency in the CII apoprotein activator of that enzyme. It may also appear secondary to underlying systemic diseases. We now describe a case of hyperchylomicronemia and pancreatitis with a lack of lipoprotein lipase activity as assessed by three different methods. The patient had no evidence of a plasma inactivator of lipoprotein lipase, and his plasma was able to activate the enzyme in control postheparin plasma. The postheparin plasma hepatic triglyceride lipase was normal. Tests for associated systemic diseases were negative. Six weeks after presentation, that patient's lipoprotein levels and postheparin plasma lipase activities were normal. This was a unique case of hyperchylomicronemia which for a limited time was indistinguishable from primary lipoprotein lipase deficiency by current biochemical techniques.
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PMID:Transient lipoprotein lipase deficiency with hyperchylomicronemia. 661 44

Lipoprotein lipase deficiency, characterized by recurrent pancreatitis, profound hypertriglyceridemia, and delayed clearance of chylomicrons, is generally first diagnosed in childhood. Although patients with this condition have died during episodes of acute pancreatitis in the fourth and fifth decades, no patient older than 50 years has been previously reported. The de novo diagnosis of lipoprotein lipase deficiency in a 75-year-old man illustrates important points about this disease. This inborn error in metabolism may have a relatively benign clinical course resulting in normal life span, particularly if there is strict adherence to a low-fat diet and abstinence from alcohol. Moreover, measurement of lipoprotein lipase activity in persons with severe hypertriglyceridemia and recurrent abdominal pain, even in elderly patients, should lead to the correct diagnosis and treatment of this condition.
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PMID:Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man. 663 56

Chylomicrons accumulating in plasma obtained after an overnight fast are always abnormal and can be detected in association with triglyceride levels above 1000 mg per dl. The chylomicronemia syndrome is associated with marked hypertriglyceridemia (plasma triglyceride level above 2000 mg per dl), abdominal pain or pancreatitis, eruptive xanthomata, lipemia retinalis, dyspnea, mental aberrations, and other minor findings. The marked hypertriglyceridemia is usually due to the interaction of a common familial form of hypertriglyceridemia and a common acquired form of hypertriglyceridemia secondary to another disease, drug, or alcohol. Rarely, genetic abnormalities in lipoprotein lipase are the cause of the marked hypertriglyceridemia. Therapy that successfully lowers plasma triglyceride levels is associated with clearing of the symptoms and signs of the chylomicronemia syndrome and prevention of its recurrence.
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PMID:Chylomicronemia syndrome. Interaction of genetic and acquired hypertriglyceridemia. 704 Aug 47


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