Diagnosis and treatment of lipodystrophy: a step-by-step approach

Araújo‐Vilar, David; Santini, Ferruccio

doi:10.1007/s40618-018-0887-z

Cited by 126 publications

(117 citation statements)

References 80 publications

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“…They can be divided into generalized, partial or localized depending on the extent of fat loss. Additionally, both, generalized and partial forms can be classified as inherited and acquired [1]. Barraquer-Simons syndrome (BSS) (ORPHA: 79087), is an acquired form of partial lipodystrophy, characterized by bilateral symmetrical loss of adipose tissue that begins in the face and may variably spreads to neck, shoulders, arms and trunk, keeping intact the adipose tissue of the lower extremities [2].…”

Section: Introductionmentioning

confidence: 99%

Immunological features of patients affected by Barraquer-Simons syndrome

Corvillo

Ceccarini

Nozal

et al. 2020

Orphanet J Rare Dis

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Background: C3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causing complement system over-activation, are common features among most patients affected by Barraquer-Simons syndrome (BSS), an acquired form of partial lipodystrophy. Moreover, BSS is frequently associated with autoimmune diseases. However, the relationship between complement system dysregulation and BSS remains to be fully elucidated. The aim of this study was to provide a comprehensive immunological analysis of the complement system status, autoantibody signatures and HLA profile in BSS. Thirteen subjects with BSS were recruited for the study. The circulating levels of complement components, C3, C4, Factor B (FB) and Properdin (P), as well as an extended autoantibody profile including autoantibodies targeting complement components and regulators were assessed in serum. Additionally, HLA genotyping was carried out using DNA extracted from peripheral blood mononuclear cells. Results: C3, C4 and FB levels were significantly reduced in patients with BSS as compared with healthy subjects. C3NeF was the most frequently found autoantibody (69.2% of cases), followed by anti-C3 (38.5%), and anti-P and anti-FB (30.8% each). Clinical data showed high prevalence of autoimmune diseases (38.5%), the majority of patients (61.5%) being positive for at least one of the autoantibodies tested. The HLA allele DRB1*11 was present in 54% of BSS patients, and the majority of them (31%) were positive for *11:03 (vs 1.3% allelic frequency in the general population). Conclusions: Our results confirmed the association between BSS, autoimmunity and C3 hypocomplementemia. Moreover, the finding of autoantibodies targeting complement system proteins points to complement dysregulation as a central pathological event in the development of BSS.

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Section: Introductionmentioning

confidence: 99%

Immunological features of patients affected by Barraquer-Simons syndrome

Corvillo

Ceccarini

Nozal

et al. 2020

Orphanet J Rare Dis

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“…Lipodystrophies (LDs) are a group of rare, acquired or genetic, medical conditions characterized by adipose (fat) tissue deficiency in the absence of a catabolic state or nutritional deprivation [1,2]. The deficiency of fat may be throughout the entire body (i.e.…”

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confidence: 99%

“…partial LD) [1], with abnormal accumulation of fat in unaffected regions often evident [3]. Fat tissue plays a key role in lipid metabolism and glucose homeostasis [4], and its loss in LD interferes with hunger/satiety signals (commonly leading to hyperphagia), resulting in inappropriate lipid storage in muscle, the liver and other organs [1,2]. Consequently, patients with LD often have extreme insulin resistance, leading to hypertriglyceridaemia, diabetes, non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), pancreatitis and other metabolic/ endocrine abnormalities [1,5].…”

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confidence: 99%

“…diet and exercise) and pharmacotherapy for each specific complication (e.g. statins for hyperlipidaemia; glucose-lowering agents for diabetes) [2,6]. However, these conventional therapies do not address the underlying causes of LD and often provide insufficient metabolic control [6].…”

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confidence: 99%

“…However, these conventional therapies do not address the underlying causes of LD and often provide insufficient metabolic control [6]. These limitations and the knowledge that serum levels of leptin (an adipose tissue-secreted hormone with effects such as appetite suppression, promotion of hepatic lipolysis and glucose usage in skeletal muscle, and inhibition of insulin secretion [5,7]) tend to be low in patients with LD [2], prompted investigation of leptin replacement therapy as a potential treatment option [6]. Metreleptin [Myalepta ® (EU); Myalept ® (USA)] is a recombinant analogue of human leptin [3,5] this change correlating with a reduction in low-density lipoprotein cholesterol [18].…”

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confidence: 99%

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Metreleptin in lipodystrophy: a profile of its use

Deeks

2019

Drugs Ther Perspect

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Metreleptin [Myalepta ® (EU); Myalept ® (USA)] is a recombinant analogue of human leptin and currently the only drug available for the specific treatment of lipodystrophy (LD). In the EU, metreleptin (administered once daily via subcutaneous injection) is indicated as replacement therapy to treat the complications of leptin deficiency in patients aged ≥ 2 years with generalized LD and in patients aged ≥ 12 years with partial LD who have failed to achieve adequate metabolic control with standard treatments. Its use in these rare settings is supported by data from open-label clinical studies and clinical practice, with the totality of evidence indicating that metreleptin improves metabolic abnormalities associated with generalized or partial LD, including in paediatric patients. Other potential benefits include improved hepatic parameters/disease, nephropathy and survival, although the impact of the drug on these outcomes would benefit from further analysis. Metreleptin is generally well tolerated.

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Genetic Disorders of Adipose Tissue

Millington

2024

Rook's Textbook of Dermatology

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Subcutaneous fat consists of white, brown and beige adipose tissue, with diverse metabolic, thermogenic, paracrine, endocrine and immune functions. Disorders of adipose tissue can be divided principally into: disorders of distribution of fat, the lipodystrophies, lipoedema and fibroadipose hyperplasia, disorders of excessive generalised accumulation of fat (in other words obesity), tumours and inflammation (such as panniculitis). There is increasing evidence of a hereditary component in the pathogenesis of all of these conditions.

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Diagnosis and treatment of lipodystrophy: a step-by-step approach

Abstract: Here, we describe the clinical presentation of known types of lipodystrophy, present an algorithm for differential diagnosis of lipodystrophy, and suggest specific steps to recognize and diagnose lipodystrophy in the clinical setting.

Cited by 126 publications

References 80 publications

Immunological features of patients affected by Barraquer-Simons syndrome

Immunological features of patients affected by Barraquer-Simons syndrome

Metreleptin in lipodystrophy: a profile of its use

Genetic Disorders of Adipose Tissue

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