Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation

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Abstract

Background

Familial partial lipodystrophies (FPLD) are clinically heterogeneous disorders characterized by selective loss of adipose tissue, insulin resistance and metabolic complications. Until genetic studies become available for clinical practice, clinical suspicion and pattern of fat loss are the only parameters leading clinicians to consider the diagnosis. The objective of this study was to compare body composition by dual energy X-ray absorptiometry (DXA) in patients with FPLD and control subjects, aiming to find objective variables for evaluation of FPLD.

Methods

Eighteen female patients with partial lipodystrophy phenotype and 16 healthy controls, matched for body mass index, sex and age were studied. All participants had body fat distribution evaluated by DXA measures. Fasting blood samples were obtained for evaluation of plasma leptin, lipid profile and inflammatory markers. Genetic studies were carried out on the 18 patients selected that were included for statistical analysis. Thirteen women confirmed diagnosis of Dunnigan-type FPLD (FPLD2).

Results

DXA revealed a marked decrease in truncal fat and 3 folds decrease in limbs fat percentage in FPLD2 patients (p <0.001). Comparative analysis showed that ratio between trunk and lower limbs fat mass, characterized as Fat Mass Ratio (FMR), had a greater value in FLPD2 group (1.86 ± 0.43 vs controls 0.93 ± 0.10; p <0.001) and a improved accuracy for evaluating FPLD2 with a cut-off point of 1.2. Furthermore, affected women showed hypoleptinemia (FLPD2 4.9 ± 2.0 vs controls 18.2 ± 6.8; p <0.001), insulin resistance and a more aggressive lipid profile.

Conclusion

In this study, assessment of body fat distribution by DXA permitted an objective characterization of FLPD2. A consistent pattern with marked fat reduction of lower body was observed in affected patients. To our knowledge this is the first time that cut-off values of objective variables were proposed for evaluation of FPLD2.

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Most cited references 14

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Leptin secretion from subcutaneous and visceral adipose tissue in women.

V van Harmelen, S Reynisdottir, P. Eriksson … (1998)

Upper body obesity is a risk factor for type 2 diabetes. Little is known about the regulation of body fat distribution, but leptin may be involved. This study examined the secretion of leptin in subcutaneous and omental fat tissue in 15 obese and 8 nonobese women. Leptin secretion rates were two to three times higher in subcutaneous than in omental fat tissue in both obese and nonobese women (P < 0.0001 and P < 0.001, respectively). There was a positive correlation between BMI and leptin secretion rates in both subcutaneous (r = 0.87, P < 0.0001) and omental (r = 0.74, P < 0.0001) fat tissue. Furthermore, leptin secretion rates in subcutaneous and omental fat tissue correlated well with serum leptin levels (r = 0.84, P < 0.0001 and r = 0.73, P = 0.001, respectively), although in multivariate analysis, the subcutaneous leptin secretion rate was the major regressor for serum leptin (F = 42). Subcutaneous fat cells were approximately 50% larger than omental fat cells, and there was a positive correlation between fat cell size and leptin secretion rate in both fat depots (r = 0.8, P < 0.01). Leptin (but not gamma-actin) mRNA levels were twofold higher in subcutaneous than in omental fat tissue (P < 0.05). Thus the subcutaneous fat depot is the major source of leptin in women owing to the combination of a mass effect (subcutaneous fat being the major depot) and a higher secretion rate in the subcutaneous than in the visceral region, which in turn could be due to increased cell size and leptin gene expression.

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Lower-body adiposity and metabolic protection in postmenopausal women.

R. Van Der Leeuw, Jeremy Schwartz, Maciej Jankowski … (2005)

It has been suggested that the propensity to store fat in the gluteal-femoral region may be cardioprotective. The primary aim of this study was to test whether the favorable associations of leg fat with risk factors for cardiovascular disease persist after controlling for the highly unfavorable effects of abdominal (visceral or sc) adiposity in postmenopausal women. The study included 95 postmenopausal women [age, 60 +/- 8 yr (mean +/- SD)]. Whole-body and regional fat distribution was measured using dual-energy x-ray absorptiometry and abdominal computed tomography. Markers of insulin resistance and dyslipidemia were determined from oral glucose tolerance tests and fasted lipid and lipoprotein measurements, respectively. Primary outcomes were: fasting insulin (INS0), area under the insulin curve (INS(AUC)), product of the oral glucose tolerance test insulin and glucose AUC (INS(AUC) - GLU(AUC)), serum triglycerides (TG), and high-density lipoprotein (HDL) cholesterol. Controlling for trunk fat revealed a favorable effect of leg fat on INS0, INS(AUC), INS(AUC) x GLU(AUC), TG, and HDL. However, after controlling for either visceral or sc abdominal adiposity, TG was the only risk factor for which the favorable effect of leg fat persisted. The lack of an association between leg fat and most of the risk factors, after adjusting for abdominal visceral or sc fat, suggests an overriding deleterious influence of abdominal adiposity on cardiovascular risk. Nevertheless, our finding that regional adipose tissue depots have apparent independent and opposing effects on serum TG supports the need for further research into the physiological mechanisms governing these effects.

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Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).

A Garg, R Peshock, J Fleckenstein (1998)

Familial partial lipodystrophy, Dunnigan type (FPLD), is a rare autosomal dominant genetic disorder characterized by gradual loss of sc fat from the extremities, commencing at the time of puberty. Excess fat deposition may occur in the face and neck area. Limited information is available about adipose tissue distribution in patients with FPLD. To investigate whether there is a unique pattern of fat distribution in both affected men and women with FPLD, we performed whole-body magnetic resonance imaging in one male and three female patients from two pedigrees. Magnetic resonance imaging studies confirmed the clinical findings of near-total absence of sc fat from all extremities. Reduction in sc adipose tissue from the truncal area was more prominent anteriorly than posteriorly. Increased fat stores were observed in the neck and face. Intermuscular adipose tissue in the extremities and pelvic area were subjectively increased. Intraabdominal and intrathoracic adipose tissue was not reduced. Bone marrow fat, as well as mechanical adipose tissue, was present in normal amounts. The pattern of fat distribution in the male and females was similar. We conclude that FPLD results in a characteristic absence of sc fat from the extremities, with preservation of intermuscular fat stores.

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Author and article information

Journal

Journal ID (nlm-ta): Diabetol Metab Syndr

Journal ID (iso-abbrev): Diabetol Metab Syndr

Title: Diabetology & Metabolic Syndrome

Publisher: BioMed Central

ISSN (Electronic): 1758-5996

Publication date Collection: 2012

Publication date (Electronic): 31 August 2012

Volume: 4

Page: 40

Affiliations

[1 ]Metabolism Unit, Instituto Estadual de Diabetes e Endocrinologia, Rio de Janeiro and Catholic University, Rio de Janeiro, Brazil

[2 ]Department of Nutrology, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil

[3 ]Division of Endocrinology, Universidade Federal de Sao Paulo, São Paulo, SP, Brazil

[4 ]Instituto Estadual de Diabetes e Endocrinologia, Rua Moncorvo Filho 90 – Centro, Rio de Janeiro, RJ CEP 20211-340, Brasil

Article

Publisher ID: 1758-5996-4-40

DOI: 10.1186/1758-5996-4-40

PMC ID: 3524775

PubMed ID: 22938045

SO-VID: 4d733b7b-8ee4-446f-83e0-82004c29fd5b

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation

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Abstract

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Karger: Nutrition and Dietetics

Most cited references 14

Leptin secretion from subcutaneous and visceral adipose tissue in women.

Lower-body adiposity and metabolic protection in postmenopausal women.

Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).

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