Cases reported "Metabolic Syndrome X"

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1/8. recurrence of insulin resistant metabolic syndrome following liver transplantation.

    Insulin resistant metabolic syndrome is a major clinical disorder including hyperlipidaemia, hypertension, impaired glucose tolerance and/or type 2 diabetes and central obesity, which are well established cardiovascular risk factors. We report the case of a 61-year-old woman who developed severe hypercholesterolaemia and hypertriglyceridaemia after liver transplantation. In her forties she had hypertension, mixed hyperlipidaemia, mild hyperglycaemia and moderate abdominal obesity, suggesting the presence of the metabolic syndrome. She had liver enzyme elevation and severe steatosis and hepatomegaly at ultrasonography. At age 52, cryptogenic liver cirrhosis was diagnosed and rapidly progressing liver failure developed. In 1992 she underwent liver transplantation. Seven years after transplant the patient had abdominal obesity, high blood pressure, marked hypercholesterolaemia, hypertriglyceridaemia and moderate elevation of alanine aminotransferase. She also had impaired glucose tolerance and markedly increased basal and post-glucose load plasma insulin levels. Steatohepatitis was demonstrated by serial liver biopsies. This is the first case that reports the recurrence of the metabolic syndrome following liver transplantation. We postulate that metabolic syndrome may have promoted fatty liver and subsequent progression to end stage liver disease. We also stress the need for careful management of the metabolic syndrome in order to decrease the long-term risk for cardiovascular disease.
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2/8. obesity and the metabolic syndrome.

    The prevalence of marked obesity is increasing rapidly among adults and has more than doubled in 10 years. Sixty-one percent of the adult population of the united states is overweight or obese. Americans are the fattest people on earth. Paradoxically these increases in the numbers of persons who are obese or overweight have occurred during recent years when Americans have been preoccupied with numerous dietary programs, diet products, weight control, health clubs, home exercise equipment, and physical fitness videos, each "guaranteed" to bring rapid results. overweight and obesity are also world problems. The world health organization estimates that 1 billion people around the world are now overweight or obese. Westernization of diets has been part of the problem. Fruits, vegetables, and whole grains are being replaced by readily accessible foods high in saturated fat, sugar, and refined carbohydrates. Since class 3 obesity (morbid or extreme obesity) is associated with the most severe health complications, the incidence of hypertension, stroke, heart disease, diabetes, and peripheral vascular disease will increase substantially in the future. Recently, obesity alone has been implicated in the development of cardiac hypertrophy and CHF. The metabolic syndrome associated with abdominal obesity, which includes insulin resistance, dyslipidemia, and elevated CRP levels, identifies subjects who have an increase in cardiovascular morbidity and mortality. Twenty to 25% of the adult population in the united states have the metabolic syndrome, and in some older groups this prevalence approaches 50%. The prevalence of overweight children in the united states has also been increasing dramatically, especially among non-Hispanic blacks and Mexican-American adolescents. overweight children usually become overweight adults. atherosclerosis begins in childhood. The degree of atherosclerotic changes in children and young adults can be correlated with the presence of the same risk factors seen in adults. As health providers, our direction is obvious!
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3/8. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.

    We previously reported a syndrome of severe hyperinsulinemia and early-onset hypertension in three patients with dominant-negative mutations in the nuclear hormone receptor peroxisome proliferator-activated receptor (PPAR)-gamma. We now report the results of further detailed pathophysiological evaluation of these subjects, the identification of affected prepubertal children within one of the original families, and the effects of thiazolidinedione therapy in two subjects. These studies 1) definitively demonstrate the presence of severe peripheral and hepatic insulin resistance in the affected subjects; 2) describe a stereotyped pattern of partial lipodystrophy associated with all the features of the metabolic syndrome and nonalcoholic steatohepatitis; 3) document abnormalities in the in vivo function of remaining adipose tissue, including the inability of subcutaneous abdominal adipose tissue to trap and store free fatty acids postprandially and the presence of very low circulating levels of adiponectin; 4) document the presence of severe hyperinsulinemia in prepubertal carriers of the proline-467-leucine (P467L) PPAR-gamma mutation; 5) provide the first direct evidence of cellular resistance to PPAR-gamma agonists in mononuclear cells derived from the patients; and 6) report on the metabolic response to thiazolidinedione therapy in two affected subjects. Although the condition is rare, the study of humans with dominant-negative mutations in PPAR-gamma can provide important insight into the roles of this nuclear receptor in human metabolism.
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4/8. A mild form of Alstrom disease associated with metabolic syndrome and very high fasting serum free fatty acids: two cases diagnosed in adult age.

    alstrom syndrome (ALMS) is a very rare genetic autosomal recessive disease, characterized by early-onset severe abdominal obesity, impaired glucose tolerance or type 2 diabetes with insulin resistance, acanthosis nigricans, hyperlipidemia, childhood progressive retinal degeneration or retinitis pigmentosa and neurosensory hearing loss or deafness, cardiomyopathy, and other endocrine disorders. Genetic studies locate the ALMS gene on chromosome 2p12-13. The aim of this paper is to describe and discuss two unrelated cases of a mild ALMS form diagnosed after the age of 40 and 60, respectively, in adult fertile female patients. These cases showed several features of the disease plus other alterations characteristic of the classic "metabolic syndrome," including hypertension, hyperfibrinogenemia, and thrombotic states. Moreover, the patients had very high fasting serum free fatty acid (FFA) levels (2150 and 1919 micromol/L, respectively), which proved to be sensitive to inhibition by oral glucose tolerance test (OGTT)-induced hyperinsulinemia as well as to caloric restriction. ALMS may have an adverse prognosis and is often underdiagnosed. Its mild form, which allows a long survival, may also be associated with the late complications of the metabolic syndrome, leading to increased vascular risk.
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5/8. polycystic ovary syndrome and severe nonalcoholic steatohepatitis: beneficial effect of modest weight loss and exercise on liver biopsy findings.

    OBJECTIVE: To report a case of biopsy-documented nonalcoholic steatohepatitis (NASH), which improved appreciably through moderate exercise and weight loss in a young woman with polycystic ovary syndrome (PCOS) and insulin resistance. methods: We present a detailed case report, including laboratory and pathologic findings. In addition, we review the recent literature regarding the association of insulin resistance with NASH and PCOS. RESULTS: A 24-year-old woman was referred to the Duke gastroenterology Clinic for evaluation of long-term high serum aminotransferase levels. She also reported a history of chronically irregular menses, infertility, and hirsutism and was diagnosed with PCOS. Subsequent glucose tolerance testing suggested the presence of insulin resistance. Liver biopsy findings were consistent with severe nonalcoholic steatohepatitis. Under the supervision of her physician and an exercise physiologist, the patient initiated a diet and exercise program that resulted in an 11.5% weight loss during approximately 8 months and yielded normalization of her aminotransferase levels. A repeat liver biopsy done 13 months after the initial biopsy revealed a substantial decrease in steatosis and a reduction in inflammation. CONCLUSION: women with PCOS and insulin resistance have an increased risk of developing many of the consequences of the dysmetabolic syndrome, including type 2 diabetes, hypertension, and hyperlipidemia. This case report suggests that fatty liver and NASH may be other important diseases to identify in such women. It also demonstrates the improvement in this condition with moderate exercise and weight loss.
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6/8. weight loss in obese children carrying the proopiomelanocortin R236G variant.

    To acquire more information relative to the course of obesity in conditions of food restriction in subjects carrying mutations in the melanocortin signaling pathway, 710 obese children (mean age: 9.5 /-2.1 yr; mean z-score body mass index: 3.63 /-1.6) were genotyped for the proopiomelanocortin (POMC) R236G substitution, a variant which has been associated to early onset obesity, by restriction fragment length polymorphism (RFLP) analysis. Three children were heterozygotes for the R236G variant (0.4%). One of them had the metabolic syndrome. This variant was not found in 400 controls. The 3 probands followed a hypocaloric balanced diet and, after about 12 months, normalized their weight as well as fat mass and insulin resistance. The patient with the metabolic syndrome reversed this condition. These results show that a) the R236G substitution of POMC gene, although not a major cause of obesity among Italian obese children and adolescents, is associated with early onset obesity, and that b) inherited alterations of the melanocortin signaling pathway, independently of the degree of obesity, do not preclude the possibility to lose weight in mutated individuals following a hypocaloric diet.
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7/8. health promotion when the 'vaccine' does not work.

    The epidemics of obesity, metabolic syndrome and type 2 diabetes have worsened over the past decades. During this time our preventive and therapeutic approach (the 'vaccine'), consisting of a low-fat diet and exercise, has remained fundamentally unchanged. A case is made that these conditions are inter-related and may be caused by a single underlying factor related to the carbohydrate content of diet. The validity of the present approach is challenged when those most knowledgeable in its application succumb to diseases it is meant to prevent. Others argue against the status quo that a low-carbohydrate diet may be more beneficial. A strong belief in the present approach discouraged research into low-carbohydrate diets until recently. Several studies have now demonstrated their benefits and are refuting old claims that they cause harm. Aboriginal people suffer more acutely from the epidemics in question and their dietary history suggests that a sudden increase in carbohydrates is to blame. Recent studies and a case history demonstrate that carbohydrate consumption can drive appetite and over-eating while carbohydrate restriction leads to weight loss and improvement in the markers for metabolic syndrome and type 2 diabetes. The growing evidence in support of low-carbohydrate diets will encounter resistance from economic interests threatened by changes in consumption patterns.
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8/8. Severe hypertriglyceridemia with a history of treatment failure.

    Background A 53-year-old man with a history of hypertension and gout was referred to our clinic for severe hypertriglyceridemia, diagnosed 3 years previously. He was asymptomatic and had no history of abdominal pain, pancreatitis or diabetes, but consumed six cans of beer per night. Over the previous 2 years, he had been treated unsuccessfully with multiple medications; during this period his fasting triglycerides ranged from 5.41 mM to 55.04 mM (479 to 4,871 mg/dl).Investigations physical examination including fundoscopy, medication review, and laboratory tests.diagnosis Severe hypertriglyceridemia due to a genetic combined hyperlipidemia, exacerbated by persistent excessive alcohol intake and metabolic syndrome.Management Cessation of alcohol intake, initiation of a fat-restricted diet, and fibrate therapy, with close follow-up. Once serum triglycerides were controlled, attention was turned to lowering LDL-cholesterol concentration according to The National cholesterol education Program, adult Treatment Panel III guidelines.
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