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Article
Open AccessDiagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey
Lipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information descr...
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Article
Open AccessThe Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges
Metreleptin, a recombinant analog of human leptin, is an approved therapy, adjunct to diet, to treat the metabolic complications of leptin deficiency in patients with lipodystrophy – a group of rare diseases c...
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Article
Lipodystrophy-associated progeroid syndromes
With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is not generally recovered. As a consequence, an ectopic deposit...
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Article
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
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Article
Open AccessLipoDDx: a mobile application for identification of rare lipodystrophy syndromes
Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of ...
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Article
Open AccessCorrection to: Immunological features of patients affected by Barraquer-Simons syndrome
Following the publication of the original article [1], the authors have requested to amend the Abstract and Discussion section as follows.
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Article
Open AccessEuropean lipodystrophy registry: background and structure
Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because o...
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Article
Open AccessImmunological features of patients affected by Barraquer-Simons syndrome
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 (...
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Article
Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy
To evaluate the effects of metreleptin in patients with partial lipodystrophy (PL).
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Article
Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Celia’s encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL...
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Article
Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy
The purpose of this study is to summarize the effectiveness and safety of metreleptin in patients with congenital or acquired generalized lipodystrophy.
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Article
Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome
Familial partial lipodystrophy are Mendelian disorders involving abnormal body fat distribution and insulin resistance. The current classification includes the Köbberling syndrome (type 1 familial partial lipo...
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Article
Open AccessECLip-the European consortium on lipodystrophies: an update
