Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1

Melvin, Audrey; Adams, Claire A.; Flanagan, Catherine; Gaff, Lisa; Gratton, Barbara; Gribble, Fiona M.; Roberts, Geoffrey; Semple, Robert K.; O’Rahilly, Stephen; Rubino, Francesco; Stears, Anna; Savage, David B.

doi:10.1210/jc.2017-01235

Cited by 24 publications

(8 citation statements)

References 9 publications

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“…Therefore, we treated them with drugs such as dipeptidyl peptidase 4 inhibitors, TZDs and glucagon-like peptide-1 (GLP-1) receptor agonists, and insulin. It has been reported that TZDs, GLP-1 receptor agonists, and sodium-glucose cotransporter 2 inhibitors, leptin replacement, and metabolic surgery are effective for treating lipoatrophic diabetes [24][25][26][27][28][29][30].…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics of 15 female Japanese patients with partial lipodystrophy identified in a diabetic outpatient clinic

Iwanishi¹,

Kusakabe²,

Azuma³

et al. 2018

Diabetes Updates

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Background and objective: The present study aims to clarify the clinical characteristics of Japanese women with Partial Lipodystrophy (PL) in a diabetic outpatient clinic.Methods: We performed visual and physical examinations on approximately 800 female patients who visited the diabetic outpatient clinic at Kusatsu General Hospital between August 2003 and August 2013. Following these examinations, we diagnosed PL using dual energy X-ray absorptiometry (DEXA) and magnetic resonance imaging (MRI). We performed a genetic analysis in eight patients with PL. We examined the usefulness of fat mass ratio (FMR) in diagnosing PL by comparing PL and Control groups.Results: We identified 15 female Japanese patients with PL. Eight patients who received a genetic analysis had neither mutations in candidate genes known to be associated with familial partial lipodystrophy (FPLD) nor novel likely candidate causal genes. All patients had fat loss in the lower limbs, frequently accompanied by abdominal fat accumulation based on DEXA and MRI findings. As FPLD1 is usually autosomal dominant and is characterized by fat loss in the lower limbs with abdominal fat accumulation, a high rate of positivity for a family history, unknown genetic cause, and metabolic disturbances, we thought 8 patients who received a genetic analysis fitted into the category of FPLD1. Our patients with PL might be predisposed to develop diabetic microangiopathy, severe atherosclerosis, nonalcoholic steatohepatitis and malignancy. The cut-off point of FMR was 1.2 (sensitivity 100%, specificity 91%) to identify these patients.Conclusions Patients with PL are more common than previously thought, and not a few patients of 15 patients with PL we identified might have FPLD1. FMR is a useful indicator of PL among Japanese women.

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Section: Discussionmentioning

confidence: 99%

Clinical characteristics of 15 female Japanese patients with partial lipodystrophy identified in a diabetic outpatient clinic

Iwanishi¹,

Kusakabe²,

Azuma³

et al. 2018

Diabetes Updates

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“…84,85 The dramatic improvement in glycemic control has been attributed to reduced lipotoxicity as well as increased postprandial levels of GLP-1. 86 Efficacy of cosmetic treatment has been predominantly studied in cases of acquired partial lipodystrophy. Procedures such as liposuction, gluteoplasty, breast implants, facial reconstruction and autologous fat transplantation have been tried with variable results in an effort to improve appearances and self-esteem in affected patients.…”

Section: Treatmentmentioning

confidence: 99%

<p>Familial Partial Lipodystrophy (FPLD): Recent Insights</p>

Bagias¹,

Xiarchou²,

Bargiota³

et al. 2020

DMSO

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Lipodystrophies are a heterogeneous group of congenital or acquired disorders, characterized by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic variability with insulin resistance, hypertriglyceridemia and hepatic steatosis being the cardinal metabolic features. The severity of the metabolic derangements is in proportion with the degree of lipoatrophy. The underpinning pathogenetic mechanism is the limited capacity of adipose tissue to store lipids leading to lipotoxicity, low-grade inflammation, altered adipokine secretion and ectopic fat tissue accumulation. Advances in molecular genetics have led to the discovery of new genes and improved our knowledge of the regulation of adipose tissue biology. Diagnosis relies predominantly on clinical findings, such as abnormal fat tissue topography and signs of insulin resistance and is confirmed by genetic analysis. In addition to anthropometry and conventional imaging, new techniques such as color-coded imaging of fat depots allow more accurate assessment of the regional fat distribution and differentiation of lipodystrophic syndromes from common metabolic syndrome phenotype. The treatment of patients with lipodystrophy has proven to be challenging. The use of a human leptin analogue, metreleptin, has recently been approved in the management of FPLD with evidence suggesting improved metabolic profile, satiety, reproductive function and self-perception. Preliminary data on the use of glucagon-like peptide 1 receptor agonists (GLP1 Ras) and sodium-glucose cotransporter 2 (SGLT2) inhibitors in cases of FPLD have shown promising results with reduction in total insulin requirements and improvement in glycemic control. Finally, investigational trials for new therapeutic agents in the management of FPLD are underway.

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“…Bariatric surgery is an effective therapeutic approach to reduce weight and improve wellbeing for morbidly obese individuals (Maggard et al, 2005;Karlsson et al, 2007) and it has been shown to have beneficial effects in lipodystrophy patients with BMI < 30 (McGrath and Krishna, 2006;Utzschneider and Trence, 2006;Ciudin et al, 2011;Grundfest-Broniatowski et al, 2017;Melvin et al, 2017).…”

Section: Effect Of Bariatric Surgerymentioning

confidence: 99%

Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes

Seyres¹,

Cabassi

Lambourne³

et al. 2020

Preprint

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Providing a molecular characterisation of cardiometabolic syndrome (CMS) could improve our understanding of its pathogenesis and pathophysiology, and provide a step toward the development of better treatments. To this end, we performed a deep phenotyping analysis of 185 blood donors, 10 obese, and 10 lipodystrophy patients.We analysed transcriptomes and epigenomes of monocytes, neutrophils, macrophages and platelets. Additionally, plasma metabolites including lipids and biochemistry measurements were quantified.Multi-omics integration of this data allowed us to identify combinations of features related to patient status and to order the donor population according to their molecular similarity to patients. We also performed differential analyses on epigenomic, transcriptomic and plasma proteomic data collected from obese individuals before and six months after bariatric surgery. These analyses revealed a pattern of abnormal activation of immune cells in obese individuals and lipodystrophy patients, which was partially reverted six months after bariatric surgery.

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Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1

Cited by 24 publications

References 9 publications

Clinical characteristics of 15 female Japanese patients with partial lipodystrophy identified in a diabetic outpatient clinic

Clinical characteristics of 15 female Japanese patients with partial lipodystrophy identified in a diabetic outpatient clinic

<p>Familial Partial Lipodystrophy (FPLD): Recent Insights</p>

Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes

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