Complement Abnormalities in Acquired Lipodystrophy Revisited

Savage, David B.; Semple, Robert K.; Clatworthy, Menna R.; Lyons, Paul; Morgan, B. Paul; Cochran, Elaine; Görden, Phillip; Raymond-Barker, Philippa; Murgatroyd, Peter R.; Adams, Claire; Scobie, I N; Mufti, Ghulam J.; Alexander, Graeme; Thiru, S; Murano, Incoronata; Cinti, Saverio; Chaudhry, Afzal; Smith, Kenneth G. C.; O’Rahilly, Stephen

doi:10.1210/jc.2008-1703

Cited by 75 publications

(38 citation statements)

References 32 publications

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“…The mechanisms of fat loss in patients with AGL seem to be variable, including panniculitis, associated autoimmune diseases especially dermatomyositis, and unknown mechanisms [54]. Some patients have low serum complement 4 levels suggesting involvement of the classical complement pathway in the pathogenesis of fat loss [55].…”

Section: Acquired Generalized Lipodystrophy (Lawrence Syndrome)mentioning

confidence: 99%

Lipodystrophies and Dyslipidemias

Garg

2015

Contemporary Endocrinology

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Section: Acquired Generalized Lipodystrophy (Lawrence Syndrome)mentioning

confidence: 99%

Lipodystrophies and Dyslipidemias

Garg

2015

Contemporary Endocrinology

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“…As human studies are difficult to conduct, the development of mouse models has provided key tools to improve our understanding of the molecular mechanisms involved in the origin of lipodystrophy and also important models to study the metabolic BSCL phenotypes (reviewed in [34]). …”

Section: Mouse Models As Tools To Decipher the Molecular Mechanisms Imentioning

confidence: 99%

Congenital Lipodystrophies and Dyslipidemias

Prieur

May

Magré

et al. 2014

Curr Atheroscler Rep

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Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

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“…This binds to and stabilises C3 convertase, leading to the activation of the alternative complement factor pathway and excessive consumption of C3 (Misra et al, 2004;Savage et al, 2009). Increased activity of C3 convertase activity has also been proposed as a risk for developing AMD (Helgason et al, 2013;Seddon et al, 2013;Zhan et al, 2013).…”

mentioning

confidence: 99%

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes

Khan

Mahroo

Khan

et al. 2016

Progress in Retinal and Eye Research

181

159

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Drusen are discussed frequently in the context of their association with age-related macular degeneration (AMD). Some types may, however, be regarded as a normal consequence of ageing; others may be observed in young age groups. They also occur in a number of inherited disorders and some systemic conditions. Whilst drusen are classically located external (sclerad) to the retinal pigment epithelium, accumulations of material internal (vitread to) this layer can display a drusen-like appearance, having been variously termed pseudodrusen or subretinal drusenoid deposits. This review first briefly presents an overview of drusen biogenesis and subclinical deposit. The (frequently overlapping) subtypes of clinically detectable deposit, seen usually in the context of ageing or AMD, are then described in more detail, together with appearance on imaging modalities: these include hard and soft drusen, cuticular drusen, reticular pseudodrusen and "ghost drusen". Eye disorders other than AMD which may exhibit drusen or drusen-like features are subsequently discussed: these include monogenic conditions as well as conditions with undefined inheritance, the latter including some types of early onset drusen such as large colloid drusen. A number of systemic conditions in which drusen-like deposits may be seen are also considered. Throughout this review, high resolution images are presented for most of the conditions discussed, particularly the rarer ones, providing a useful reference library for images of the range of conditions associated with drusen-like appearances. In the final section, some common themes are highlighted, as well as a brief discussion of some future avenues for research.

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Complement Abnormalities in Acquired Lipodystrophy Revisited

Cited by 75 publications

References 32 publications

Lipodystrophies and Dyslipidemias

Lipodystrophies and Dyslipidemias

Congenital Lipodystrophies and Dyslipidemias

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes

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