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PubMed1999

Benefit of switching from a protease inhibitor (PI) to nevirapine in PI-experienced patients suffering acquired HIV-related lipodystrophy syndrome (AHL): interim analysis at 3 months of follow-up.

This multicentre, randomized, open-label, prospective trial is evaluating the effects of switching treatment from a protease inhibitor (PI)-containing regimen to one containing the non-nucleoside reverse transcriptase (RT) inhibitor nevirapine in human immunodeficiency virus (HIV)-infected patients with durable viral suppression but suffering from lipodystrophy. Objectives of this ongoing study are to evaluate the effects of this switch on changes in body shape and metabolic abnormalities associated with acquired HIV-related lipodystrophy syndrome (AHL), as well as on maintenance of viral suppression and immunological and psychological effects. Preliminary data involving 57 patients with 3 months of follow-up show an initial improvement of AHL in two regions, the face and arms. There is also a tendency toward improved cholesterol and triglyceride levels and improved quality of life among patients receiving the nevirapine-containing regimen. Maintenance of viral suppression was equivalent in both treatment groups. Additional data with longer follow-up are needed to confirm these results.

Adult↗
PubMed2005

Altered mitochondrial RNA production in adipocytes from HIV-infected individuals with lipodystrophy.

BACKGROUND: Damage to mitochondria (mt) is a major side effect of highly active antiretroviral therapy (HAART) that includes a nucleoside reverse transcriptase inhibitor (NRTI). Such damage is associated with the onset of lipodystrophy in HAART-treated HIV+ patients. To further investigate mt changes during this syndrome, we analysed the expression of mtRNA in adipocytes from lipodystrophic HIV+ patients taking NRTI-containing HAART and compared it with similar cells from healthy individuals. MATERIALS AND METHODS: Total RNA was extracted from adipocytes collected from different anatomical locations of 11 HIV+ lipodystrophic patients and seven healthy control individuals. RNA was reverse transcribed and Taqman-based real-time PCR was used to quantify three different mt transcripts (ND1, CYTB and ND6 gene products). mtRNA content was normalized versus the housekeeping transcript L13. RESULTS: ND1, CYTB and ND6 expression was significantly reduced in HIV+ lipodystrophic patients. HIV+ men and women did not differ in a statistically significant way regarding the levels of ND1 and ND6, whereas the opposite occurred for CYTB. CONCLUSIONS: Lipodystrophy following treatment with NRTI-containing HAART is associated with a decrease in adipose tissue mtRNAs.

Adipocytes↗
PubMed2005

Methodological considerations in human studies of gene expression in HIV-associated lipodystrophy.

In the majority of cases, HIV-associated lipodystrophy, lipoatrophy in particular, becomes clinically apparent only after months or years of continuous exposure to antiretroviral medications and, once developed, is difficult to reverse. Many lipid-related side effects of antiretroviral medications result from drug-induced changes in gene expression. As our understanding of the pathogenic mechanisms underlying HIV-associated lipodystrophy improves, it is important to be able to explore changes at a molecular level in order to fully elucidate the mechanisms whereby antiretroviral drugs exert their toxicities. Monitoring changes in gene expression in vivo may enable physicians to identify, predict or prevent drug toxicities early, before irreversible changes in body composition occur. However, monitoring changes in gene expression at a population level presents many methodological challenges that need to be addressed, over and above the considerable intra- and inter-individual variability inherent in the cellular expression of any gene. Careful collection and processing of adequate biological samples, robust laboratory processes and assays, and appropriate study design can help overcome many of these difficulties.

CCAAT-Enhancer-Binding Proteins↗
PubMed2005

Dyslipidemia and lipodystrophy in HIV-infected Thai children on highly active antiretroviral therapy (HAART).

BACKGROUND: Previous cross sectional studies revealed that dyslipidemia occurs in 50-70% of children receiving highly active antiretroviral therapy (HAART). However, there is no information in children in developing countries where children may have a different nutritional status. OBJECTIVE: To evaluate the incidence and associated risk factors of dyslipidemia following HAART in HIV-infected Thai children. The occurrence of clinical lipodystrophy among these children was also evaluated. MATERIAL AND METHOD: Twenty-three HIV-infected children who initiated HAART from "Access to Care Program" sponsored by MOPH around October 2001. Non-fasting blood tests for lipid profile were performed at enrollment and every 6 months. Triglyceride level was not analysed due to a non-fasting condition. The assessment of clinical lipodystrophy was done every 1-2 months. RESULTS. As of October 2003, 19 (83%) children experienced dyslipidemia. There were 10, 13, 5, and 8 children who had dyslipidemia at 6, 12, 18, and 24 months of HAART The mean total cholesterol, low density lipoprotein (LDL), and high density lipoprotein (HDL) tended to increase over time while the children were on HAART: There was a correlation of elevated total cholesterol and CD4 percentage gain particularly at 18-24 months of treatment (r = 0.596, p = 0.007). Two children developed peripheral lipoatrophy. There were no dyslipidemia-associated risk factors identified. Most of the children had transient abnormal lipid profile. There were only 3 children that had persistent abnormality throughout the 24 months of HAART CONCLUSION: Dyslipidemia was found from 6-12 months of HAART and were mostly transient over time. Peripheral lipoatrophy were found in 2 children. Further follow-up will elucidate the long-term incidence, the association factors, and clinical consequences.

Antiretroviral Therapy, Highly Active↗
PubMed2006

Evaluation of the HIV lipodystrophy case definition in a placebo-controlled, 144-week study in antiretroviral-naive adults.

OBJECTIVE: To compare three versions of the objective HIV-associated lipodystrophy (HIVLD) case definition (LDCD) and derived severity scale to spontaneous clinical LD assessment in adults initiating antiretroviral therapy. DESIGN AND MAIN OUTCOME MEASURES: The LDCD versions were the 'primary' LDCD [which includes dual-energy X-ray absorptiometry (DXA) and computerized tomography (CT)], a simpler 'central' LDCD that omits CT data, and a simpler but probably less accurate 'non-imaging' LDCD. Physician LD assessments were passively reported. Two of the 10 parameters in the primary LDCD were not collected and were imputed. Setting, participants and interventions: Retrospective analysis of a randomized, placebo-controlled, 144-week study of tenofovir DF or stavudine (d4T) in 600 antiretroviral-naive adults. RESULTS: Central LDCD and clinical assessment diagnosed LD in 27% and 19% of d4T recipients at week 144, respectively (P < 0.001), and 3% and 3% of tenofovir DF recipients, respectively (P = 0.248). The central LDCD performed at least as well as the primary LDCD; both were more sensitive than the non-imaging model. There was poor concordance between clinical and LDCD-based diagnosis (kappa 0.02-0.20); most clinical cases did not fulfill any LDCD. Using the central LDCD, most LD was grade 1; 6% of d4T recipients and no tenofovir DF recipient had grade 3-4 LD at week 144 (P = 0.007). Independent risk factors for LD using the central LDCD were d4T, increasing age, female sex and higher baseline triglycerides, whereas clinical assessment consistently identified only d4T. The LDCD score was more sensitive than DXA for assessing LD severity. CONCLUSIONS: In this prospective study of a first antiretroviral regimen, the LDCD was more sensitive for LD diagnosis and identified more lipodystrophy risk factors than spontaneous clinical assessment or DXA, and also objectively quantified LD severity. The central LDCD should make objective LD assessment cheaper and simpler. Spontaneous clinical LD assessment of is of limited value, even in placebo-controlled trials.

Absorptiometry, Photon↗
PubMed1990

Familial incidence of C3 nephritic factor, partial lipodystrophy and membranoproliferative glomerulonephritis.

C3 nephritic factor is an IgG autoantibody that causes complement activation by stabilizing the alternative pathway C3 convertase. It is associated with partial lipodystrophy and membrano-proliferative glomerulonephritis. The occurrence of C3 nephritic factor, partial lipodystrophy and membranoproliferative glomerulonephritis, whether singly or in any combination, is usually sporadic. We describe the coexistence of all three of these conditions in members spanning two generations of a single family. This suggests that the pathogenesis of these conditions may be linked and that genetically determined factors may, in some circumstances, contribute to disease susceptibility.

Biopsy↗
PubMed1986

C3 nephritic factor in an individual with recurrent viral infection and lipodystrophy.

A patient with nephritic factor in the serum following an attack of disseminated herpes is described. In the majority of cases, the factor is associated with mesangio-capillary glomerulonephritis, with or without partial lipodystrophy. It has, however, been described in cases of partial lipodystrophy alone, in one patient with recurrent pyogenic infections, and in one healthy individual. It has not previously been described in an individual with disseminated viral infection.

Adult↗
PubMed1984

[Differential diagnosis of partial lipodystrophies].

Based on recently published findings there can be differentiated three disease entities of partial lipodystrophies. We report on two special courses differing from the progressive lipodystrophy by sparing the face. The main clinical and laboratory findings as well as pathogenetic concepts are discussed.

Adult↗
PubMed1984

Incidence of membranous lipodystrophy-like change among patients with limb necrosis caused by chronic arterial obstruction.

Although membranocystic changes of adipose tissue, characteristic of membranous lipodystrophy, can be found in some cases of limb ischemic necrosis caused by arteriosclerotic obstruction, the incidence of the lesions in several forms of limb ischemia is not known. Subcutaneous fat of 53 patients with limb ischemic necrosis was studied histologically and ultrastructurally for the presence of membranocystic changes. The lesions were found in 11 (38%) of 29 cases of thromboangiitis obliterans, 15 (75%) of 20 cases of arteriosclerotic obstruction, and two (50%) of four cases of progressive systemic sclerosis. The membranous lipodystrophy-like changes can be produced by several forms of chronic circulatory disturbance and they are one of the nonspecific changes of adipose tissue.

Adipose Tissue↗
PubMed1978

Partial lipodystrophy and insulin-resistant diabetes.

The coexistence of partial lipodystrophy of unusual distribution (limbs, back and head) with insulin-resistant diabetes and severe retinal, renal, neurological and arterial complications is reported. The lipodystrophy followed juvenile arthritis (Still's disease) and the diabetes, initially asymptomatic, became insulin dependent and technically insulin resistant (200 - 300 units insulin/day). Severe hyperlipidaemia has been a feature of this syndrome, probably contributing to the conspicuous peripheral arterial disease. The mother was diabetic but three sisters had normal glucose tolerance and there is no lipodystrophic member of the family. Underlying mechanisms of this syndrome remain obscure.

Adolescent↗
PubMedDate not supplied

[Fat and carbohydrate metabolism in lipodystrophies].

Several indices of fat and carbohydrate metabolism were examined in 9 patients with congenital generalized lipodystrophy and in 11 subjects with the hypermuscular form of the disease. The latent or manifest disorders of carbohydrate metabolism, hyperinsulinism, hypercholesterolemia, hypertriglyceridemia, lipid spectrum displacement towards pre-beta-lipoproteid fraction were seen in the majority of patients. Disturbed fat metabolism was more pronounced in patients with hypermuscular lipodystrophy. In lipoatrophic states there was no correlation between immunoreactive insulin level and triglyceride concentration in the blood plasma.

Blood Glucose↗
PubMed1981

[Subclinical glomerulonephritis with dense deposits in the course of partial lipodystrophy (author's transl)].

In a young woman with partial lipodystrophy accompanied by hypocomplementemia related to circulating C3NF activity, renal biopsy revealed dense deposits in the basement membranes of the glomerular capillaries without any evidence of urinary syndrome. This early form was not revealed by light microscopy and was confirmed only by ultrastructural examination. The morphological characteristics are similar to those occurring in renal grafts. The authors point out that subclinical forms of glomerulonephritis must be considered in cases of lipodystrophy and hypocomplementemia.

Adolescent↗
PubMed1995

Renal cell carcinoma in a patient with mesenteric lipodystrophy.

Mesenteric lipodystrophy is a rare disorder not previously known to be associated with urological abnormalities. We report on a man with stage T3a renal cell carcinoma and congenital mesenteric lipodystrophy. To our knowledge our case represents the first concurrence of these entities.

Adult↗
PubMedDate not supplied

Epilepsy in congenital lipodystrophy. Case report.

A case of congenital lipodystrophy complicated by complex-partial epilepsy is reported in a nine-year-old girl. The peculiarity of this rare case is represented by partial complex epilepsy with diffuse electroencephalographic alterations represented by a continuous seizure-like pattern that persisted unmodified despite the successful antiepileptic treatment. Although the etiopathology of lipodystrophy is, at present, still elusive, we hypothesize that the primitive dysfunction of lipidic metabolism plays a critical role in both determining central nervous system (CNS) alterations and the findings that characterized this extremely rare disease.

Adipose Tissue↗
PubMed1995

Congenital generalized lipodystrophy, a case report.

Generalized lipodystrophy is a rare condition which can be divided into congenital and acquired types, based on the age at presentation and pattern of inheritance. The congenital type of generalized lipodystrophy or Lawrence-Seip syndrome presents in first two years of life and is inherited in an autosomal recessive pattern. The diagnosis is made on the basis of loss of body fat, muscular hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly with fatty liver, hyperlipidemia and hyperglycemia with insulin resistance. A 2 1/2-year-old Thai girl with the clinical features of Lawrence-Seip syndrome is reported. Abnormal platelet function was detected in this girl.

Blood Platelets↗
PubMed1999

Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.

Familial lipodystrophy is a genetically heterogeneous set of disorders characterized by a total or partial absence of subcutaneous fat, diabetes mellitus or impaired glucose tolerance, hyperlipidemia, and hypermetabolism [Senior and Gellis, 1964]. One subtype, familial partial lipodystrophy Dunnigan (FPLD), is a rare autosomal dominant trait that results in an gradual loss of subcutaneous fat in the lower trunk and limbs, Type V hyperlipoproteinemia, hypertriglyceridemia, and insulin-resistant diabetes. Previous reports of this condition have been limited to case reports or very small families. Recently, Peters et al. reported on linkage of five families of Western European descent to a 5.3 cM region on chromosome 1q21-22 between the flanking markers D1S305 and D1S1600 [Peters et al., 1998: Nat Genet 18:292-295]. We performed linkage and haplotype analysis using highly polymorphic, microsatellite markers on a large, multigeneration Caucasian kindred of German ancestry. The maximum two-point lod score achieved was 4.96 at theta(max) = 0 for marker D1S2721. Multipoint analysis gave an overall maximum lod score of 6.27 near marker D1S2721. The results of the haplotype analysis support the minimal candidate region as reported by Peters et al.

Adult↗
PubMed2005

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype enabled us to distinguish six subtypes. In 4.4%, the disorder was not penetrant. Twenty percent of the patients were subclinically affected; some of these patients could only be detected by pathological nerve conduction studies. A distal hereditary motor neuropathy type V phenotype characterized by predominant hand muscle involvement was found in 31.1%, whereas 14.5% showed typical Silver syndrome with amyotrophy of the small hand muscles and spasticity of the lower extremities. Moreover, the phenotype present in 20% was compatible with Charcot-Marie-Tooth disease. In 10%, the clinical diagnosis of pure or complicated hereditary spastic paraparesis was made. Electrophysiological studies showed an axonal neuropathy but also chronodispersion of compound motor action potentials and conduction blocks. Sensory nerve conduction studies were rarely pathological. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders.

Action Potentials↗
PubMed2002

In vitro evidence of inhibition of mitochondrial protease processing by HIV-1 protease inhibitors in yeast: a possible contribution to lipodystrophy syndrome.

Highly active antiretroviral therapy has been associated with the emergence of lipodystrophy syndromes that have clinical features commonly seen in patients with mitochondrial dysfunction. The effect of therapeutic protease inhibitors (PIs) on mitochondrial function is unknown. Mitochondrial matrix space proteins possess an amino-terminal leader peptide that is removed by the mitochondrial processing protease (MPP). Lack of cleavage could result in non- or dysfunctional mitochondrial proteins. The effects of different PIs on protease processing using pure MPP or yeast mitochondria, recognized models for mammalian counterparts, were examined in vitro. Multiple PIs were found to inhibit MPP, evidenced by accumulation of immature pALDH and decreased levels of processed ALDH. Both indinavir and amprenavir at 5.0 mg/ml resulted in significant inhibition of MPP. Although inhibition of MPP was also observed with ritonavir and saquinavir, the inhibition was difficult to quantify due to background inhibition of MPP by DMSO that was required to solubilize the drugs for the in vitro studies. Indinavir was also shown to inhibit MPP within yeast mitochondria. Lack of processing may impair mitochondrial function and contribute to the observed mitochondrial dysfunctions in patients receiving HAART and implicated in antiretroviral-associated lipodystrophy.

Journal Article↗