Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Lipodystrophy”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 145 records · Page 8Linked to original sources
PubMed1977

Congenital generalized lipodystrophy and experimental lipoatrophic diabetes in rabbits treated successfully with fenfluramine.

Lipoatrophic diabetes has been produced in rabbits by injection of a fraction prepared from the urine from patients with congenital generalized lipodystrophy. Both these conditions are considered to be hypothalamic syndromes. The animals, and a patient with congenital generalized lipodystrophy and latent diabetes were treated with the dopamine receptor blocker, pimozide, for 4 and 17 months, respectively. The results were discouraging even though the patient got a daily dose of 16 mg pimozide. Fenfluramine has a lowering effect on brain serotonin, and peripheral effects on glucose and triglyceride metabolism. This drug improved the general condition of the rabbits with lipoatrophic diabetes, as well as that of the patient with congenital generalized lipodystrophy. The rabbits became normoglycaemic and insulin sensitive. In the patient a normalization of the urinary excretion of the serotonin metabolite 5-OH-indole acetic acid was observed. His voracious hunger and profuse perspiration were reduced, the hyperkeratotic layer of the skin peeled off, and the pigmentations of the skin decreased. There was observed an improvement of ALAT and ASAT, normalization of the fasting blood glucose, and increased sensitivity to exogenous insulin. After 11 months of 200 mg fenfluramine daily addtitional administration of 2 g clofibrate per day produced normalization of the serum triglyceride concentration and a marked reduction of the resistance to insulin. Three more patients with congenital generalized lipodystriphy, two of whom have manifest diabetes, have now started treatment with fenfluramine and are improving. The rabbits got relapse of their lipoatrophic diabetes when the fenfluramine treatment was stopped. It is suggested that a disturbance in the serotonin metabolism of the central nervous system may be of pathogenetic importance in congenital generalized lipodystrophy.

Adult↗
PubMed2002

Altered myocellular and abdominal fat partitioning predict disturbance in insulin action in HIV protease inhibitor-related lipodystrophy.

HIV protease inhibitor-related lipodystrophy is characterized by peripheral fat loss, hyperlipidemia, and insulin resistance. Increased availability of lipid to muscle may be one of the mechanisms that induce insulin resistance. Regional fat, intramyocellular lipid (by (1)H-magnetic resonance spectroscopy), serum lipids, and insulin-stimulated glucose disposal (by hyperinsulinemic-euglycemic clamp) were quantified in 10 men who had HIV-1 infection with moderate to severe lipodystrophy and a control group of 10 nonlipodystrophic men who had HIV-1 infection and were naïve to protease inhibitors to examine the effects of lipodystrophy on glucose and lipid metabolism. Lipodystrophic subjects showed lower insulin-stimulated glucose disposal than control subjects (P = 0.001) and had increased serum triglycerides (P = 0.03), less limb fat (P = 0.02), increased visceral fat as a proportion of total abdominal fat (P = 0.003), and increased intramyocellular lipid (1.90 +/- 0.15 vs. 1.23 +/- 0.16% of water resonance peak area; P = 0.007). In both groups combined, visceral fat related strongly to intramyocellular lipid (r = 0.83, P < 0.0001) and intramyocellular lipid related negatively to insulin-stimulated glucose disposal (r = -0.71, P = 0.0005). Fasting serum cholesterol and triglycerides related positively to intramyocellular lipid and visceral fat in lipodystrophic subjects only. The data indicate that lipodystrophy is associated with increased lipid content in muscle accompanying impaired insulin action. The results do not establish causation but emphasize the interrelationships among visceral fat, myocyte lipid, and insulin action.

Absorptiometry, Photon↗
PubMed2005

Skeletal muscle insulin signaling defects downstream of phosphatidylinositol 3-kinase at the level of Akt are associated with impaired nonoxidative glucose disposal in HIV lipodystrophy.

More than 40% of HIV-infected patients on highly active antiretroviral therapy (HAART) experience fat redistribution (lipodystrophy), a syndrome associated with insulin resistance primarily affecting insulin-stimulated nonoxidative glucose metabolism (NOGM(ins)). Skeletal muscle biopsies, obtained from 18 lipodystrophic nondiabetic patients (LIPO) and 18 nondiabetic patients without lipodystrophy (NONLIPO) before and during hyperinsulinemic (40 mU.m(-2).min(-1))-euglycemic clamps, were analyzed for insulin signaling effectors. All patients were on HAART. Both LIPO and NONLIPO patients were normoglycemic (4.9 +/- 0.1 and 4.8 +/- 0.1 mmol/l, respectively); however, NOGM(ins) was reduced by 49% in LIPO patients (P < 0.001). NOGM(ins) correlated positively with insulin-stimulated glycogen synthase activity (I-form, P < 0.001, n = 36). Glycogen synthase activity (I-form) correlated inversely with phosphorylation of glycogen synthase sites 2+2a (P < 0.001, n = 36) and sites 3a+b (P < 0.001, n = 36) during clamp. Incremental glycogen synthase-kinase-3alpha and -3beta phosphorylation was attenuated in LIPO patients (Ps < 0.05). Insulin-stimulated Akt Ser473 and Akt Thr308 phosphorylation was decreased in LIPO patients (P < 0.05), whereas insulin receptor substrate-1-associated phosphatidylinositol (PI) 3-kinase activity increased significantly (P < 0.001) and similarly (NS) in both groups during clamp. Thus, low glycogen synthase activity explained impaired NOGM(ins) in HIV lipodystrophy, and insulin signaling defects were downstream of PI 3-kinase at the level of Akt. These results suggest mechanisms for the insulin resistance greatly enhancing the risk of type 2 diabetes in HIV lipodystrophy.

Acquired Immunodeficiency Syndrome↗
PubMed2003

Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy.

OBJECTIVE: To investigate whether leptin-induced improvements in glycemic control, hyperlipidemia, and insulin sensitivity in hypoleptinemic patients with generalized lipodystrophies are accompanied by reduction in intrahepatic and intramyocellular lipid (IMCL) accumulation. RESEARCH DESIGN AND METHODS: We examined the effects 8-10 months of subcutaneous leptin replacement therapy on insulin sensitivity, IMCL, and intrahepatic lipid content in two patients with acquired generalized lipodystrophy and one patient with congenital generalized lipodystrophy. All patients had extreme lack of body fat, low plasma leptin levels, and elevated serum triglycerides, but only two had diabetes. Insulin sensitivity was measured by a high-dose (0.2 IU/kg) insulin tolerance test, as well as by hyperinsulinemic-euglycemic glucose clamp studies in two patients. IMCL and intrahepatic lipid content were measured by (1)H magnetic resonance spectroscopy. All measurements were obtained before and during 2-10 months of leptin therapy. RESULTS: Glycemic control and lipoprotein levels markedly improved with leptin therapy in the two diabetic patients, and a slight improvement in lipoprotein levels was seen in the nondiabetic patients. Insulin stimulated glucose uptake during 60-120 min of the euglycemic clamp studies, and the rate of glucose disappearance during the insulin tolerance test nearly doubled with leptin therapy. As compared with the baseline period, after 8-10 months of leptin therapy, the mean intrahepatic lipid content was reduced by approximately 80% and the IMCL content was reduced by approximately 42%. CONCLUSIONS: Reduction in IMCL and intrahepatic lipid content may partly explain leptin-induced improvement in insulin sensitivity in patients with generalized lipodystrophy.

Adolescent↗
PubMed2006

An unusual case with membranous lipodystrophy in a hypertensive patient with transepidermal elimination.

Membranous lipodystrophy represents a peculiar type of fat necrosis that is present in patients with various types of skin disease. It is characterized by the presence of microcysts and macrocysts and is lined by amorphous eosinophilic material with a crenelated arabesque appearance. These findings have been associated with lupus erythematosus, diabetes mellitus, erythema nodosum, trauma, etc. We report a case of a 43-year-old woman who had a red to purple asymptomatic indurated plaque, approximately seven cm in diameter and on the left arm. She was a chronic hepatitis B antigen carrier and had hypertension for four years. Histopathology of the biopsied lesion showed transepidermal elimination of altered collagen and elastic fibers, as well as membranous lipodystrophy changes. There were hypertensive vascular changes including lymphohistiocytic infiltration around the vascular wall, swelling of endothelial cells, increased thickness of the vascular walls, and narrowing of the lumen. We report a case showing transepidermal elimination with membranous lipodystrophy. We carefully suggest that the secondary phenomenon of transepidermal elimination was associated with membranous lipodystrophy and degenerate connective tissues.

Adult↗
PubMed2000

Psychosocial impact of the lipodystrophy syndrome in HIV infection.

Lipodystrophy is a poorly understood condition associated with antiretroviral therapy in HIV infection. The symptoms may include some combination of central fat accumulation, peripheral fat depletion, and metabolic disturbance. A qualitative survey of 33 HIV-infected heterosexual women and gay men with lipodystrophy assessed psychosocial impact and effect on quality of life. Dominant themes included erosion of self-image and self-esteem, problems in social and sexual relations, threats to locus of control, forced HIV disclosure, and demoralization and depression. Another theme was clinicians' minimization of the importance of lipodystrophy. Further research is required to fully understand the psychosocial impact of lipodystrophy and to develop strategies that help individuals cope.

Adult↗
PubMed2003

Lack of mutations in LMNA, its promoter region, and the cellular retinoic acid binding protein II (CRABP II) in HIV associated lipodystrophy.

Familial partial lipodystrophy (FPL) and lipodystrophy observed in HIV-1 infected patients receiving highly active antiretroviral therapy (HAART) share multiple clinical and metabolic features. Recently, missense mutations of LMNA encoding lamin A/C have been described in FPL providing evidence for a pivotal role of lamin A/C in the regulation of adipocytes. Moreover, the cellular retinoic acid binding protein (CRABP) has been suggested to be involved in HAART associated lipodystrophy. In this study, we excluded mutations within the complete coding region and the promoter of LMNA and the CRABP II gene in HIV-1 infected patients with lipodystrophy and also any correlation of the nucleotide polymorphism at codon 566 in exon 10 of LMNA with metabolic abnormalities. Protease inhibitors including indinavir have been shown to reduce adipocyte cell differentiation and increase apoptosis of adipocytes in vitro. Indinavir leads to altered retinoic acid signaling most likely by an activation of the RAR/RXR heterodimer, perhaps by displacing all-trans-retinoic acid from CRABP. Since LMNA is regulated by a retinoic acid responsive element (L-RARE) in the promoter region, we propose that indinavir impairs retinoic acid homeostasis and/or interact via the L-RARE within the LMNA promoter. This results in altered LMNA expression and subsequent impaired adipocyte differentiation, lipodystrophic body habitus, and metabolic disturbances in HIV infected patients receiving HAART.

Amino Acid Sequence↗
PubMed2005

A-type lamin-linked lipodystrophies.

Lipodystrophies represent a group of diseases characterized by altered body fat repartition and major metabolic alterations with insulin resistance. Genetic forms of partial lipodystrophy are currently recognized as two syndromes with subcutaneous lipoatrophy but preserved or increased fat at the level of face and neck (Dunnigan syndrome or FPLD due to LMNA mutations) and/or abdomen (PPARgamma-linked forms) and are both transmitted as dominant diseases. FPLD is further characterized by muscular hypertrophy, hyperandrogenism, acanthosis nigricans, hepatomegaly with steatosis and at the biological level, marked hypertriglyceridaemia, low HDL cholesterol, insulin resistance and altered glucose tolerance or diabetes. These signs occur after puberty and their prevalence and severity are more marked in female than in male patients. At the genetic level, LMNA mutations concern in most cases the type-A lamin C-terminal domain and more than 80% are heterozygous substitutions located at position 482 (R482W/Q/L). The other locations are G465D, K486N, R582H and R584H. The presence of signs evocative of limb-girdle muscular dystrophy has been reported in patients with typical forms of FPLD. In addition, forms presenting with lipodystrophy and myopathy have been reported for patients with mutations at position R28W, R60G, R62G or R527P. In addition, lipodystrophy, either partial or generalized, can be associated with syndromes of premature ageing like Hutchinson-Gilford progeria or acromandibular dysplasia, but also with other phenotypes, as we described in a patient bearing the LMNA R133L heterozygous substitution.

Genetic Linkage↗
PubMed2005

Lipodystrophy and dyslipidemia among patients taking first-line, World Health Organization-recommended highly active antiretroviral therapy regimens in Western India.

OBJECTIVE: To determine the prevalence of lipodystrophy, dyslipidemia, and hyperglycemia among HIV-infected patients taking long-term, first-line, World Health Organization (WHO)-recommended generic highly active antiretroviral therapy (HAART) regimens in India. DESIGN: : Cross-sectional study. METHODS: Asymptomatic, antiretroviral-naive patients and those treated for > 1 year with zidovudine (ZDV)/lamivudine (3TC)/nevirapine (NVP) and stavudine (d4T)/3TC/NVP were subjectively assessed for lipodystrophy (lipoatrophy, lipohypertrophy, and mixed patterns), and lipid profiles were determined after an overnight fast. The US National Cholesterol Education Program III guidelines were used to define dyslipidemia (total cholesterol > or = 200 mg/dL, low-density lipoprotein cholesterol > or = 130 mg/dL, triglycerides > or = 150 mg/dL, high-density lipoprotein cholesterol < 40 mg/dL, and total cholesterol/high-density lipoprotein cholesterol ratio > or = 6.5). Prevalence and risk factors associated with these complications were determined. RESULTS: Of the 306 patients (126 controls, 30 on ZDV/3TC/NVP, and 150 on d4T/3TC/NVP), the prevalence of lipodystrophy was 46.1%, and lipoatrophy was significantly associated with d4T use. The prevalence of dyslipidemia and fasting hyperglycemia was significantly higher in the treatment groups. Proportion of patients with high-density lipoprotein > or = 60 mg/dL was significantly higher in the treatment groups; however, this had little impact on the total cholesterol/high-density lipoprotein ratio. CONCLUSION: There is a high prevalence of lipodystrophy, dyslipidemia, and hyperglycemia in patients taking long-term WHO-recommended generic HAART in western India. Interventions to address these complications need to be incorporated into antiretroviral scale-up programs, including improving access to alternative less-offending drugs like tenofovir and abacavir.

Adult↗
PubMedDate not supplied

[Eucaloric substitution of medium chain triglycerides for dietary long chain fatty acids improves body composition and lipid profile in a patient with human immunodeficiency virus lipodystrophy].

BACKGROUND: Lipodystrophy is a frequent disorder among patients with human immunodeficiency virus (HIV) infection, characterized by a loss of adipose tissue from the extremities, gluteal region and face, with excess fat in the neck and abdominal region. Metabolic abnormalities such as hyperlipidaemia and diabetes mellitus frequently coexist, posing these patients to an increased cardiovascular risk. Drug therapy may improve some of these metabolic disturbances, but to date there are no treatments for lipodystrophy with proven benefit. CASE REPORT: A 42-year-old man with HIV lipodystrophy was started on a standard low caloric diet with <30% of total fat and <10% of saturated fat, together with rosiglitazone 8 mg daily. After five months of treatment, given that lipodystrophic features and dyslipidaemia were still present in our patient, we tried to further improve therapeutic results by eucaloric substitution of medium chain triglycerides for dietary long chain fatty acids. Three months later, a dramatic change in body composition was shown with an increase in lean mass and a decrease in fat mass, together with an improvement in lipid profile. CONCLUSION: Eucaloric substitution of medium chain triglycerides for dietary long chain fatty acids may produce therapeutic benefits in HIV lipodystrophy.

Adult↗
PubMed2001

Wasting and lipodystrophy in patients infected with HIV: a practical approach in clinical practice.

The care of patients who have HIV infection must address multiple medical, psychological, and socioeconomic factors. Because of the time constraints of a typical 15-minute office visit, important issues may be overlooked unless the physician has a clear concept of priorities and a clear method of tracking information. Although the medical aspects--viral control--must take priority, the psychological and social consequences of the illness must not be ignored. Nutritional evaluation and counseling must be addressed because nutritional disturbances often adversely affect the general health of patients who are infected with HIV. Important nutritional complications of HIV infection are the syndromes of wasting and lipodystrophy. However, the onset of wasting may not be heralded by a change in the patient's weight. In patients who have AIDS, the mechanism leading to a loss of skeletal muscle mass has not been identified. HIV-related lipodystrophy consists of accumulation of fat in the subcutaneous tissues of the lower trunk, abdominal viscera, and dorsocervical region with loss of fat from the upper and lower extremities, buttocks, and face. Lipodystrophy in association with HIV infection is not the same as the wasting syndrome of protein-energy malnutrition. An early sign of lipodystrophy is facial wasting. The treatment of the nutritional complications of HIV infection includes exercise; nutritional counseling; and in selected patients, androgenic hormones, anabolic steroid hormones, and human growth hormone.

Anabolic Agents↗
PubMed1985

Partial (localized) lipodystrophy. Report of a case with muscle and skin abnormalities.

The light and electron microscopic myopathologic and dermatopathologic features in one patient with the partial (localized) type of lipodystrophy are described. The myopathologic changes involve both the contractile elements and the intracellular organelles, especially mitochondria that show hyperplasia and structural alterations of cristae. The dermatopathologic changes consist of a reduction in subcutaneous fat, intercellular edema, and the presence of intracytoplasmic lipid droplets. This is the first report in the literature in which the myopathologic features and detailed electron microscopy of skin in this condition are described. The myopathologic features of partial lipodystrophy are compared with those of congenital generalized lipodystrophy. It is proposed that a myopathy may be one of the manifestations of partial lipodystrophy.

Adult↗
PubMed2004

Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.

Diseases due to mutations in the lamin A/C gene (LMNA) are highly heterogeneous, including neuromuscular and cardiac dystrophies, lipodystrophies, and premature ageing syndromes. In this study we characterized the neuromuscular and cardiac phenotypes of patients bearing the heterozygous LMNA R482W mutation, which is the most frequent genotype associated with the familial partial lipodystrophy of the Dunnigan type (FPLD). Fourteen patients from two unrelated families, including 10 affected subjects, were studied. The two probands had been referred for lipoatrophy and/or diabetes. Lipodystrophy, exclusively observed in LMNA-mutated patients, was of variable severity and limited to postpubertal subjects. Lipodystrophy and metabolic disturbances were more severe in women, even if an enlarged neck was a constant finding. The severity of hypertriglyceridemia and hirsutism in females was related to that of insulin resistance. Clinical muscular alterations were only present in LMNA-mutated patients. Clinical and histological examination showed an invalidating, progressive limb-girdle muscular dystrophy in a 42-yr-old woman that had been present since childhood, associated with a typical postpubertal FPLD phenotype. Six of eight adults presented the association of calf hypertrophy, perihumeral muscular atrophy, and a rolling gait due to proximal lower limb weakness. Muscular histology was compatible with muscular dystrophy in one of them and/or showed a nonspecific excess of lipid droplets (in three cases). Immunostaining of lamin A/C was normal in the six muscular biopsies. Surprisingly, calpain 3 expression was undetectable in the patient with the severe limb-girdle muscular dystrophy, although the gene did not reveal any molecular alterations. At the cardiac level, cardiac septal hypertrophy and atherosclerosis were frequent in FPLD patients. In addition, a 24-yr-old FPLD patient had a symptomatic second degree atrioventricular block. In conclusion, we showed that most lipodystrophic patients affected by the FPLD-linked LMNA R482W mutation show muscular and cardiac abnormalities. The occurrence and severity of the myopathic and lipoatrophic phenotypes varied and were not related. The muscular phenotype was evocative of limb girdle muscular dystrophy. Cardiac hypertrophy and advanced atherosclerosis were frequent. FPLD patients should receive careful neuromuscular and cardiac examination whatever the underlying LMNA mutation.

Adolescent↗
PubMedDate not supplied

[Congenital generalized lipodystrophy].

OBJECTIVE: To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy. DESCRIPTION: Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included muscle hypertrophy, generalized lipoatrophy, and acromegalic physical appearance. Acanthosis nigricans was identified in five patients, hepatosplenomegaly in six, hypertriglyceridemia and low levels of HDL cholesterol in seven, cardiac hypertrophy in one and diabetes mellitus in two patients. All patients are under dietetic and clinical control. COMMENTS: The phenotypic characteristics of congenital generalized lipodystrophy are well identified, which, in most cases, favors the clinical diagnosis. The congenital generalized lipodystrophy is a very unusual syndrome that illustrates the importance of the adipose tissue for the majority of metabolic processes. A better understanding of this syndrome may open new horizons in the research of more prevalent diseases such as diabetes mellitus and obesity.

Acromegaly↗
PubMed1985

[Mesenteric lipodystrophy].

Mesenterial lipodystrophy is characterized macroscopically by a light yellow nodular or diffuse thickening of the mesenterium. Microscopically, infiltration of the mesenteric adipose tissue with lipid containing macrophages predominates. Mesenterial lipodystrophy is a rather common finding in autopsies. To obtain more information about the frequency and the nature of these alterations, the mesenterium of all adult autopsies during a period of 6 months was investigated. 9 out of 712 autopsies (1.26%) showed mesenterial lipodystrophy. In these cases as well, the typical macroscopic findings were nodular or diffuse mesenterial thickening partly discoloured to light yellow or orange-brown. Microscopically, infiltration of the adipose tissue with foamy cells predominated. Monocytic cells, and occasionally fibrosis, were also found. Retrospective study of the case histories gave no clinical hint of the underlying disease, except for unspecific abdominal discomfort in one case. In the literature the clinical finding is described as a rather soft abdominal tumourous mass. This disorder seems to follow a predominantly favourable course, even without therapy. Even today the etiology and pathogenesis of mesenterial lipodystrophy is unclear. Depending on the histological findings, very different terms have been applied to similar mesenterial processes.

Aged↗
PubMed2002

Panniculitis and lipodystrophy.

Panniculitis and lipodystrophy are rare disorders of subcutaneous tissue. Recently the incidence of lipodystrophy has been increasing secondary to its appearance in patients with HIV. In this population, the lipodystrophy appears to be a direct consequence of drug therapy. A review of the available literature regarding pathogenesis and treatment options is discussed. The diagnosis of panniculitis has been hampered by problems. The recent literature has concentrated on ways of improving pathologic diagnostic yields, and new aids in diagnosis are presented.

Adipose Tissue↗
PubMed2000

Metformin in the treatment of HIV lipodystrophy syndrome: A randomized controlled trial.

CONTEXT: A syndrome of lipodystrophy, characterized by fat redistribution and insulin resistance, has been estimated to affect the majority of human immunodeficiency virus (HIV)-infected individuals who are treated with combination antiretroviral therapy. There are no proven therapies for the metabolic disturbances associated with HIV lipodystrophy syndrome. OBJECTIVE: To determine the safety and efficacy of metformin therapy in HIV-infected patients with fat redistribution and abnormal glucose homeostasis. DESIGN AND SETTING: Randomized, double-blind, placebo-controlled pilot study conducted in a university hospital between December 1998 and January 2000. PATIENTS: Twenty-six HIV-infected, nondiabetic patients with fat redistribution and abnormal oral glucose tolerance test (OGTT) results, hyperinsulinemia, or both. INTERVENTIONS: Patients were randomly assigned to receive metformin, 500 mg twice daily (n = 14), or identical placebo (n = 12), for 3 months. MAIN OUTCOME MEASURES: Insulin area under the curve (AUC), calculated 120 minutes following a 75-g OGTT at baseline vs at 3-month follow-up and compared between treatment groups. RESULTS: Patients treated with metformin demonstrated significant reductions in mean (SEM) insulin AUC 120 minutes after OGTT (-2930 [912] vs -414 [432] microIU/mL [-20349 6334 vs -2875 3000 pmol/L]; P =.01), weight (-1.3 [0.6] vs 1.1 [0.4] kg; P =.005), and diastolic blood pressure (-5 [4] vs 5 [2] mm Hg; P =.009) vs controls, respectively. Metformin therapy was associated with a decrease in visceral abdominal fat (VAT; -1115 [819] vs 1191 [699] mm(2); P =.08) and a proportional reduction in subcutaneous abdominal fat (SAT); the VAT-SAT ratio was unchanged in metformin-treated vs placebo-treated patients. No increase in lactate or liver transaminase levels was observed with metformin treatment. Mild diarrhea was the most common adverse effect of metformin. No patient discontinued therapy because of adverse effects. CONCLUSIONS: This study suggests that a relatively low dosage of metformin reduces insulin resistance and related cardiovascular risk parameters in HIV-infected patients with lipodystrophy. JAMA. 2000;284:472-477

Adult↗
PubMed2002

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

Seventeen children with congenital generalized lipodystrophy or Berardinelli-Seip Congenital Lipodystrophy (BSCL) from 12 consanguineous sibships were observed in Oman. All children had widespread absence of adipose tissue from infancy together with apparent muscle hypertrophy and hepatomegaly. They did not appear to represent a single homogenous entity, and it was possible to subclassify the cases into two distinct groups. In the first group of seven cases, the features were similar to other published cases with acanthosis nigricans, raised insulin levels, and insulin resistance. In this group, there was an association between the degree of acanthosis nigricans and the severity of the disorder. Molecular analysis of these cases showed homozygosity at the BSCL2 locus on chromosome 11q13 in four of the seven cases. In the second group of ten cases, there were striking abnormalities in both skeletal and nonskeletal muscle. Reduced exercise tolerance and percussion myoxedema were observed in skeletal muscle, while infantile hypertrophic pyloric stenosis, prominent veins (phlebomegaly), disturbance of cardiac rhythm, and cardiomyopathy were observed in nonskeletal muscle. There was evidence against homozygosity in some cases for the known loci for BSCL, and this group may represent a new clinical syndrome with lipodystrophy at a different genetic location.

Adolescent↗