The hyperlipoproteinemias are the disturbance of lipid transport resulted from accelerated synthesis or retarded degradation of lipoproteins that transport cholesterol and trigycerides through plasma. These diseases are classified as type I, type IIa, type IIb, type III, type IV, type V, and hyper- -lipoproteinemia by lipoprotein phenotype. Type V hyperlipoproteinemia is uncommon in childhood and characterized by elevation of triglyceride levels due to increases in both VLDL and chylomicrons and lipoprotein electrophoresis shows increased pre- , , and chylomicron bands. We experienced a case of hyperlipoproteinemia type V in a 12 year old male who presented no specific signs and symptoms. So, we report a case of hyperlipoproteinemia type V with brief review of the literatures.
Child ; Cholesterol ; Chylomicrons ; Electrophoresis ; Humans ; Hyperlipoproteinemia Type V* ; Hyperlipoproteinemias ; Lipoproteins ; Male ; Phenotype ; Plasma ; Triglycerides

We report the case of a 25-year-old woman presenting with left hip pain. A lesion was found in the proximal femoral metaphysis. Benign bone tumor, such as intraosseous lipoma or liposclerosing myxofibrous tumor, was suspected based on simple radiographs and magnetic resonance images. Curettage of the lesion and bone grafting was performed. Histologic findings reflected primary intraosseous xanthoma of the proximal femur. Laboratory tests revealed the patient to be normolipidemic, while immunoelectrophoretic fractionation of lipoproteins revealed normal values for alpha, pre-beta, beta, and chylomicrons. At the one-year follow-up, there was no evidence of local recurrence. This is the first reported case of primary intraosseous xanthoma of the proximal femur in a normolipidemic patient.
Adult ; Bone Transplantation ; Chylomicrons ; Curettage ; Female ; Femur* ; Follow-Up Studies ; Hip ; Humans ; Lipoma ; Lipoproteins ; Recurrence ; Reference Values ; Xanthomatosis*

Type V hyperlipoproteinemia result from the accumulation of trglyceride(TG)-rich lipoproteins, very low density lipoprotein(VLDL), and chylomicrons. A 53-year old woman has showed asmptomatic, yellowish patches on tie palms and eyelids and papules on the knees with various types of xanthoma including xanthelasma palpebraum, xanthoma striatum palmare, anrl nonspecific papular xanthoma. The blood chemistry revealed a marked elevation of cholesterol and TG, and lipoprotein electrophoresis showed fasting chylomicronemia, prep-b and b-band, On histologic studies, typical foam cells were shown.
Chemistry ; Cholesterol ; Chylomicrons ; Electrophoresis ; Eyelids ; Fasting ; Female ; Foam Cells ; Humans ; Hyperlipoproteinemia Type V* ; Knee ; Lipoproteins ; Middle Aged ; Xanthomatosis

BACKGROUND AND PURPOSE: Remnant lipoproteins (RLPs) are products of partially catabolized chylomicrons and very-low-density lipoprotein, from which some triglycerides have been removed. These particles are smaller and denser than the parent particles and are believed to be strongly atherogenic. We explored the association between RLP cholesterol (RLP-C) and ischemic stroke, including stroke subtypes. METHODS: A cohort of 142 ischemic stroke patients (90 men and 52 women; age, 65.2+/-12.8 years, mean+/-SD) was enrolled; all had acute infarcts confirmed by diffusion-weighted MRI, and had fasting lipograms. A full stroke-related evaluation was conducted on each patient. An outpatient population of 88 subjects without a history of cerebrovascular or cardiovascular disease served as a control group. Serum RLP fractions were isolated using an immunoaffinity gel containing specific antiapolipoprotein (anti-apo)B-100 and anti-apoA-I antibodies. RLP-C values were considered to be high when they were in the highest quartile of all values in the study. RESULTS: High RLP-C values were more common in stroke patients than in control patients (31.0% vs. 14.8%, p=0.01), when 5.6 mg/dL (>75th percentile) was used as the cutoff value. Multivariable analyses indicated that RLP-C was a risk factor for stroke, with an odds ratio of 2.54 (p=0.045). The RLP-C level was higher in the large artery atherosclerosis subgroup (5.7+/-3.9 mg/dL) than in any other stroke subgroup (small vessel occlusion, 4.9+/-5.9 mg/dL; cardioembolism, 1.8+/-2.3 mg/dL; stroke of undetermined etiology, 3.1+/-2.9 mg/dL). CONCLUSIONS: We have found an association between high RLP-C levels and ischemic stroke, and in particular large artery atherosclerotic stroke.
Antibodies ; Arteries ; Atherosclerosis ; Cardiovascular Diseases ; Cholesterol ; Chylomicrons ; Cohort Studies ; Fasting ; Glycosaminoglycans ; Humans ; Lipoproteins ; Male ; Odds Ratio ; Outpatients ; Parents ; Risk Factors ; Stroke ; Triglycerides

BACKGROUND AND OBJECTIVES: Apolipoprotein E (apoE), a 34-kD plasma glycoapolipoprotein, plays a key role in lipoprotein metabolism by facilitating cellular uptake of remnants of triglyceride-rich chylomicrons and VLDL and may have other important biological functions. Various studies using apoE-knockout mice have elucidated the role of apoE in lipolysis, remnant clearance, and atherogenesis. Despite the growing evidence of the protective role exerted by apoE against atherosclerosis, the direct in vivo effects of the apoE overexpression on lipoprotein metabolism in the presence of endogenous mouse apoE are not yet fully understood. In this study, the technique of adenovirus-mediated gene transfer was employed to investigate the in vivo effect of apoE overexpression on lipid level and lipoprotein profile in mice fed on normal chow or high cholesterol diet. MATERIALS AND METHODS: Recombinant adenovirus (rAd.mApoE) containing mouse apoE cDNA driven by a cytomegalovirus promoter was generated and infused via tail vein in mice fed on normal chow or high cholesterol diet. Recombinant adenoviruses have emerged as the most efficient vectors for transient delivery of functional genes to the mammalian liver. RESULTS: rAd.mApoE in the various mouse tissues one week after injection was expressed mainly in the liver. ApoE overexpression decreased the cholesterol and triglyceride concentration in mice fed on normal chow. In mice fed on high cholesterol diet, apoE overexpression resulted in decrease in triglyceride concentration and increase in cholesterol. VLDL and LDL fraction were decreased, HDL was increased by apoE overexpression in both mice fed on normal chow and high cholesterol diet. CONCLUSION: These data suggest that overexpression of mouse apoE in mice with endogenous apoE may exert antiatherogenic effect by inducing favorable change in the lipoprotein profile, regardless of diet and consequent plasma lipid level. In the future, the studies regarding the effect of human apoE overexpression on the lipid and lipoprotein profile in mice fed on normal chow and high cholesterol diet will be helpful to understand the species differences or similarities in apoE activity.
Adenoviridae ; Animals ; Apolipoproteins E ; Apolipoproteins* ; Atherosclerosis ; Cholesterol* ; Chylomicrons ; Cytomegalovirus ; Diet* ; DNA, Complementary ; Humans ; Lipolysis ; Lipoproteins* ; Liver ; Metabolism ; Mice* ; Plasma* ; Triglycerides ; Veins

Chylothorax is the most common cause of pleural effusion in the neonatal period and is defined as an effusion of lymph in the pleural cavity. We report a case of chylothorax in 8-day-old male who was admitted due to respiratory difficulty. Chest AP roentgenogram showed pleural effusion of the left lung, and milky yellow fluid was aspirated via thoracentesis. Diagnosis was confirmed by chemistry studies of pleural lipid and lipoprotein electrophoresis. Chyle obtained from pleural space was diagnosed by their high triglyceride levels and the finding of chylomicrons on lipid electrophoresis. He was treated by thoracentesis, chest tube insertion, feeding with formulas containing medium-chain triglyceride and total parenteral nutrition without oral feeding. He was discharged on the 45th hospital day in good health.
Chemistry ; Chest Tubes ; Chyle ; Chylomicrons ; Chylothorax* ; Diagnosis ; Electrophoresis ; Humans ; Infant, Newborn ; Lipoproteins ; Lung ; Male ; Parenteral Nutrition, Total ; Pleural Cavity ; Pleural Effusion ; Thorax ; Triglycerides

Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. His chylomicronemia was discovered incidentally when lactescent plasma was noticed during routine blood sampling during a hospital admission for fever and irritability. Laboratory investigation revealed marked triglyceridemia (>5,000 mg/dL) with high chylomicron levels. We therefore decided to perform a therapeutic plasmapheresis to prevent acute pancreatitis. Sequence analysis revealed a homozygous novel mutation in exon 4 of GPIHBP1: c.476delG (p.Gly159Alafs). Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) stabilizes the binding of chylomicrons near lipoprotein lipase and supports lipolysis. Mutations of GPIHBP1, the most recently discovered gene, can lead to severe hyperlipidemia and are known to make up only 2% of the monogenic mutations associated with chylomicronemia. The patient maintains mild hypertriglyceridemia without rebound after single plasmapheresis and maintenance fibrate medication so far. Here, we report an infant with chylomicronemia due to GPIHBP1 mutation, successfully treated by plasmapheresis.
Chylomicrons ; Exons ; Fever ; Humans ; Hyperlipidemias ; Hypertriglyceridemia ; Infant* ; Infant, Newborn* ; Lipolysis ; Lipoprotein Lipase ; Multiple Organ Failure ; Necrosis ; Pancreatitis ; Plasma ; Plasmapheresis* ; Sequence Analysis

Hypertriglyceridemia a major cause of acute pancreatitis, accounting for up to 10% of all cases. The pathophysiological mechanism of hypertriglyceridemia-induced acute pancreatitis (HTGP) is presumed to involve the hydrolysis of triglycerides by pancreatic lipase resulting in an excess of free fatty acids and elevated chylomicrons, which are thought to increase plasma viscosity and induce ischemia and inflammation in pancreatic tissue. Although the clinical course of HTGP is similar to other forms of acute pancreatitis, the clinical severity and associated complications are significantly higher in patients with HTGP. Therefore, an accurate diagnosis is essential for treatment and prevention of disease recurrence. At present, there are no approved guidelines for the management of HTGP. Different treatment modalities such as apheresis/plasmapheresis, insulin, heparin, fibric acids, and omega-3 fatty acids have been successfully implemented to reduce serum triglycerides. Following acute phase management, lifestyle modifications including dietary adjustments and drug therapy are important for the long-term management of HTGP and the prevention of relapse. Additional studies are required to produce generalized and efficient treatment guidelines for HTGP.
Chylomicrons ; Diagnosis ; Drug Therapy ; Fatty Acids, Nonesterified ; Fatty Acids, Omega-3 ; Fibric Acids ; Heparin ; Humans ; Hydrolysis ; Hypertriglyceridemia ; Inflammation ; Insulin ; Ischemia ; Life Style ; Lipase ; Pancreatitis* ; Plasma ; Recurrence ; Triglycerides ; Viscosity