1/35. lipodystrophy associated with protease inhibitors.Lipodystrophies, characterized by reduction of subcutaneous fat over part or all of the body surface, are uncommon. Their causes are unknown. Recently, lipodystrophy has been reported in human immunodeficiency virus (hiv)-infected patients taking protease inhibitors, which have been recommended since 1996 as standard therapy for hiv disease in combination with nucleoside analogues. In these cases, lipodystrophy consists of an association of peripheral lipoatrophy with central adiposity. We report four hiv-infected men on protease inhibitors who developed a disfiguring lipodystrophy. In three of them, the protease inhibitor was administered for a mean duration of 21.5 months (range 19-23) with good immunological and virological responses. Patient 4 had been treated for 2 years with successive combinations of protease inhibitors with nucleoside analogues without success. The four patients progressively developed an increase in abdominal girth associated with fat wasting of the face and legs. Two of them had recurrent paronychia of the great toes. Triglyceride levels were moderately increased in all patients, and one had a slightly increased cholesterol level. One patient had elevated glucose and insulin plasma levels during a glucose tolerance test. In two patients, a deep biopsy taken from the thigh showed thinning of the subcutaneous fat without other morphological changes. Computed tomographic scans of the face and abdomen confirmed the loss of almost all subcutaneous fat of the cheek and temporal regions, and abdominal perivisceral fat accumulation. For patients 1-3, the protease inhibitor was replaced by a non-nucleoside reverse transcriptase inhibitor. Nine months later, dysmorphic changes had not regressed, but lipid abnormalities had returned to normal and the paronychia had disappeared.- - - - - - - - - - ranking = 1keywords = subcutaneous fat, fat (Clic here for more details about this article) |
2/35. Chronic hepatitis c beta-interferon-induced severe hypertriglyceridaemia with apolipoprotein E phenotype E3/2.The mechanisms of hypertriglyceridaemia and changes in plasma lipoprotein subfractions by beta-interferon treatment were studied in a hepatitis c patient with apo E phenotype E3/2. plasma levels of triglyceride (TG) were increased by treatment with 6 x 10(6) beta-interferon and reached 8.06 mmol/l at 4 weeks of treatment. Low energy and low fat diet reduced them to half the maximal level. plasma levels of LDL1 (1.019 < d < 1.045)-C, LDL2 (1.045 < d < 1.063)-C, HDL2-C and HDL3-C were 0.39, 0.31, 0.21 and 0.28 mmol/l, respectively, which are low, but the plasma levels of IDL, which is a remnant of TG-rich lipoproteins, was normal at 7 weeks of treatment. The distribution of plasma lipoprotein subfractions returned to normal after interferon treatment was discontinued. The mass and activity of lipoprotein lipase (LPL) were reduced to half the baseline level by interferon treatment. The activity of hepatic triglyceride lipase (HTGL) which transforms IDL to LDL was normal. The patient's apo E phenotype was E3/2; with that phenotype the removal of TG-rich lipoproteins and IDL through the receptors of the remnant and LDL is impaired. But the IDL plasma level was normal, probably because of normal HTGL activity and high LDL-receptor activity. Lymphocyte LDL-receptor activity was double that of the control. We conclude that interferon caused the low mass and activity of LPL which in turn caused the hypertriglyceridaemia. And no retention of the remnant of TG-rich lipoproteins in this patient with apo E3/2 and low levels of LDL subfractions was due to the active removal of them through LDL-receptors as well as the impaired production of them by suppression of LPL by interferon.- - - - - - - - - - ranking = 0.0016223212890606keywords = fat (Clic here for more details about this article) |
3/35. A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.CASE REPORT: A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members (n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (GG(716)C-->GTC/Gly(154) Val) in exon 5 and a novel splice mutation (Int8/5'-dss/t( 2)c; a T-to-C transition in the invariant GT at position 2 of the 5' donor splice site (dss)) in intron 8 of the LPL gene. RESULTS: The patient's father and paternal grandmother were heterozygotes for the Int8/5'-dss/t( 2)c allele, while the patient's mother and maternal grandmother were heterozygotes for the G154V allele. These four heterozygous carriers with one defective LPL allele showed 45-57% of the mean LPL activity and mass in the post-heparin plasma (PHP) observed in normal individuals. Among the four heterozygous carriers, the patient's father, who was <40 years old, nonobese and hyperinsulinemia, manifested mild hypertriglyceridemia (type IV hyperlipoproteinemia). The remaining three healthy heterozygous carriers (two were >40 years old and the other was <40 years old) were all normolipidemic state. CONCLUSION: In this family, hyperinsulinemia as a marker of insulin resistance may be a strong determinant of hypertriglyceridemia in the carrier with heterozygous LPL deficiency.- - - - - - - - - - ranking = 0.0048669638671818keywords = fat (Clic here for more details about this article) |
4/35. Severe hypertriglyceridemia and pancreatitis following hormone replacement prior to cryothaw transfer.PURPOSE: A case of acute pancreatitis with severe hypertriglyceridemia occurred following use of intramuscular estradiol valerate during endometrial preparation for cryopreserved embryos. methods: A 30-year-old woman with primary infertility and a past history of well-controlled hypothyroidism, underwent endometrial development with intramuscular estradiol valerate in preparation for the transfer of cryopreservred embryos. RESULTS: Initial hospitalization, discontinuation of all estrogens, aggressive intravenous fluid hydration, and initiation of low-fat diet with additional gemfibrozil treatment resulted in complete resolution of all symptoms related to the pancreatitis including the hyperlipidemia. A subsequent cryothaw cycle using oral estradiol resulted in a viable pregnancy with only mild increases in the patient's triglyceride and cholesterol levels noted throughout her 38-week gestation. CONCLUSION(S): estradiol valerate, a commonly used form of estrogen for endometrial preparation during cryothaw cycles, may cause severe hypertriglyceridemia and acute pancreatitis in certain predisposed individuals. Oral and transdermal estrogens should be the preferred method of endometrial preparation in patients at high risk for lipid metabolism disorders, such as patients with polycystic ovarian syndrome and familial hypertriglyceridemia. These estrogens are more rapidly metabolized and have a shorter half life compared to that of estradiol valerate.- - - - - - - - - - ranking = 0.0016223212890606keywords = fat (Clic here for more details about this article) |
5/35. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase.OBJECTIVES: Familial chylomicronemia syndrome is characterized by massive accumulation of plasma chylomicrons, which typically results from an absolute deficiency of lipoprotein lipase (LPL). Chylomicronemia in pregnancy is a rare, but serious clinical problem and can be found in patients with underlying molecular defects in the LPL gene. We report the course and treatment of an 18 yr-old primigravida who had LPL deficiency and hypertriglyceridemia since birth. We also analyzed the molecular basis of her LPL deficiency. DESIGN AND methods: The patient's antenatal course was complicated by extreme elevations of plasma triglycerides. Her management included a very low fat diet, pharmacotherapy with gemfibrozil in the third trimester, and intermittent hospitalization with periods of fasting supplemented by IV glucose feeding. We used dna sequencing to determine whether mutations in LPL were present. RESULTS: At 38 weeks of gestation, labor was induced, and the patient delivered a healthy 2.77 kilogram male. Postnatal triglycerides fell to prenatal levels. dna sequencing showed that she was a compound heterozygote for mutant LPL: I > T194 and R > H243. CONCLUSIONS: This experience indicates that vigilance is required during pregnancy in patients with familial chylomicronemia due to mutant LPL. gemfibrozil was used in this patient without apparent adverse effects. Compound heterozygosity for LPL mutations is an important underlying mechanism for LPL deficiency.- - - - - - - - - - ranking = 0.0016223212890606keywords = fat (Clic here for more details about this article) |
6/35. Triglyceride-induced diabetes mellitus in congenital generalized lipodystrophy.High levels of triglycerides and free fatty acids have been implicated in the pathogenesis of type 2 diabetes mellitus (DM). Congenital generalized lipodystrophy (CGL) is an autosomal recessive syndrome characterized by intense whole body reduction of subcutaneous fat. Its clinical manifestations appear during the first years of life. However, DM is usually a late event. We report a patient with CGL, diagnosed at 4 months of age, who has severe hypertriglyceridemia (serum triglyceride 12.34 mmol/l and cholesterol 3.90 mmol/l), muscular hypertrophy, hepatomegaly and DM (fasting glycemia 25.9 mmol/l). Hepatic biopsy revealed steatosis and fibrosis. A modified normolipidic (composed of medium chain triglycerides) normocaloric normoproteic milky diet and insulin therapy were instituted. After 1 month treatment a reduction of serum glucose and triglyceride levels (4.13 mmol/I and 7.7 mmol/l, respectively) was noted, with later normalization, which led to the discontinuation of insulin therapy. The patient has been maintaining good control with diet alone, presenting normal serum lipid levels (triglycerides 1.07 mmol/l, total cholesterol 2.71 mmol/l) and the following glycemic profile at OGTT: 0' 4.4 mmol/l; 30' 7.0 mmol/l; 60' 3.8 mmol/l; 90' 5.3 mmol/l, and 120' 5.2 mmol/l. The disappearance of hepatic steatosis was evidenced by a biopsy obtained 1 year after the beginning of treatment. In conolusion, this report suggests that the DM occurring in CGL can be precipitated by high triglyceride levels.- - - - - - - - - - ranking = 0.33387410709635keywords = subcutaneous fat, fat (Clic here for more details about this article) |
7/35. Combination of gemfibrozil and orlistat for treatment of combined hyperlipidemia with predominant hypertriglyceridemia.OBJECTIVE: To present a case of combined hyperlipidemia with predominant hypertriglyceridemia unresponsive to conventional diet and single-agent drug therapy but successfully treated with a combination of gemfibrozil and orlistat. methods: We describe a nonobese Asian Indian man with combined hyperlipidemia. Predominant hypertriglyceridemia was unresponsive to conventional therapy. Orlistat was added to the maximal dose of gemfibrozil, and baseline lipid profiles were compared with posttreatment values after repeated challenges with each drug individually and in combination. The relevant literature was also reviewed. RESULTS: At baseline, the patient's serum triglyceride level was 766 mg/dL and total cholesterol level was 241 mg/dL. On repeated measurements 4 months later, these values were 959 mg/dL and 309 mg/dL, respectively. With use of a reduced-fat diet and gemfibrozil (600 mg orally twice a day), serum triglyceride levels were 830 mg/dL and 909 mg/dL on two different occasions. Combination treatment with the same dosage of gemfibrozil and orlistat at 120 mg orally three times a day reduced triglyceride levels to 279 mg/dL and 244 mg/dL on two separate occasions. Rechallenges with drug monotherapy yielded triglyceride levels of up to 1,159 mg/dL with gemfibrozil alone and of up to 896 mg/dL with orlistat alone. A reduction of serum triglyceride levels to 269 mg/dL and 224 mg/dL occurred when combined treatment with both gemfibrozil and orlistat was reinstituted on two additional occasions. CONCLUSION: The combination of gemfibrozil and orlistat was extremely effective in reducing serum triglyceride levels in this patient with combined hyperlipidemia and predominant hypertriglyceridemia, whereas either one of these agents, when used alone, was ineffective. Determining the mechanisms of this synergy will necessitate further investigation. Additional studies of the use of the gemfibrozil-orlistat combination in patients who have combined hyperlipidemia with predominant hypertriglyceridemia are needed.- - - - - - - - - - ranking = 0.0016223212890606keywords = fat (Clic here for more details about this article) |
8/35. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature.We present clinical descriptions, metabolic features, and patterns of body fat loss of 16 patients with acquired generalized lipodystrophy (AGL) seen by us over the last 10 years. In addition, we review 63 cases of AGL reported in the literature. Based on these data, we propose new diagnostic criteria for AGL, the essential criterion being selective loss of body fat from large regions of the body occurring after birth. We also propose a subclassification of AGL into 3 varieties, type 1, the panniculitis variety; type 2, the autoimmune disease variety; and type 3, the idiopathic variety, which affect nearly 25%, 25%, and 50% of patients, respectively. Most of the patients presented in childhood and adolescence. Females were affected approximately 3 times more than males. subcutaneous fat loss was severe and usually affected the face, trunk, abdomen, and extremities. In some patients, fat loss also involved the palms and soles and intraabdominal region; however, the bone marrow and retroorbital fat were preserved in all patients. Clinically, patients may have voracious appetite, fatigue, and acanthosis nigricans. hepatomegaly was common, mostly due to hepatic steatosis. Most AGL patients had fasting and/or postprandial hyperinsulinemia, diabetes mellitus, hypertriglyceridemia, and low serum levels of high-density lipoprotein cholesterol, leptin, and adiponectin. diabetes mellitus and hypertriglyceridemia were less prevalent in the panniculitis variety compared with the idiopathic and autoimmune varieties. The management of AGL includes cosmetic surgery for loss of fat. Severe hypertriglyceridemia should be treated with a very low-fat diet and omega-3 polyunsaturated fatty acid supplementation from fish oils. Management of diabetes is difficult and may necessitate insulin therapy in large doses. Insulin sensitizers such as metformin and thiazolidinediones have been used, although their long-term efficacy and safety remain unknown. Subcutaneous administration of recombinant leptin in AGL patients with hypoleptinemia effectively improves hyperglycemia, hypertriglyceridemia, and hepatic steatosis. leptin therapy, however, remains investigational. Fibrates alone or in combination with statins may be used to treat hypertriglyceridemia.- - - - - - - - - - ranking = 0.014600891601546keywords = fat (Clic here for more details about this article) |
9/35. Complications of subcutaneous fat necrosis of the newborn: a case report and review of the literature.subcutaneous fat necrosis of the newborn is an uncommon, self-limited panniculitis of neonates. Rare complications such as hypercalcemia, thrombocytopenia, hypertriglyceridemia, and hypoglycemia have been reported. We describe the first case where all of the above complications were encountered in the same infant. physicians caring for infants with subcutaneous fat necrosis of the newborn should be aware of the above associations in order to provide prompt and appropriate treatment to prevent associated, undesirable sequelae.- - - - - - - - - - ranking = 1.6628812503255keywords = subcutaneous fat, fat (Clic here for more details about this article) |
10/35. Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in taiwan.INTRODUCTION: Familial lipoprotein lipase (LPL) deficiency is inherited as an autosomal recessive trait and is characterized by chylomicronemia, eruptive xanthoma, hepatosplenomegaly, and recurrent pancreatitis. AIMS AND METHODOLOGY: Two unrelated Chinese of Han descent with hypertriglyceridemia were enrolled in this study, and another six Han Chinese with no family history of hypertriglyceridemia and diabetes were recruited as normal controls. LPL activity was determined with use of an artificial substrate of 14C-trioleine and Arabic gum, and release of 14C free fatty acid was determined by the liquid-liquid partitioning system. LPL mass was measured by enzyme immunoassay. Genomic dna was extracted from EDTA-preserved whole blood, and PCR was used to amplify the nine coding exons and the minimal promoter of the LPL gene. RESULTS: dna sequence analysis revealed that mutations were identified in both patients; one patient had compound heterozygous mutations in codon 252 [CTG(Leu) --> GTG(Val)] and in codon 264 [TGC(Cys) --> TGa(Ter)] of exon 6, and the other patient had homozygous L252V mutation. These subjects had > or =90% reduction in LPL mass and > or =60% reduction in LPL activity. CONCLUSION: The mutated and truncated LPLs caused hypertriglyceridemia in these patients in taiwan with hypertriglyceridemia and pancreatitis.- - - - - - - - - - ranking = 0.0016223212890606keywords = fat (Clic here for more details about this article) |
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