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Muscle Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Kourosh Rezania, Peter Pytel, Betty Soliven
Autosomal dominant (EMD2) and autosomal recessive (EMD3) presentations are linked to mutations in the LMNA gene encoding lamin A/C. Mutations in lamin A/C can also result in other clinical phenotypes that include dilated cardiomyopathy with conduction defects, familial partial lipodystrophy, autosomal recessive axonal neuropathy (CMT2B1), and Hutchinson–Gilford progeria syndrome.
Evaluation of efficacy and safety of antisense inhibition of apolipoprotein C-III with volanesorsen in patients with severe hypertriglyceridemia
Published in Expert Opinion on Pharmacotherapy, 2020
Laura D’Erasmo, Antonio Gallo, Alessia Di Costanzo, Eric Bruckert, Marcello Arca
Familial partial lipodystrophy (FPLD) is a rare condition (estimated frequency 1 in 60,000) characterized by an abnormal distribution of adipose tissue [13]. In normal conditions, adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. In people with FPLD, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat cannot be stored in the limbs and instead accumulates around the face and neck, and at the intra-abdominal level. An sHTG phenotype is often observed in this condition, together with insulin resistance, diabetes mellitus, and fatty liver. Familial partial lipodystrophy can be caused by mutations in several genes. Most cases are Type 2 (also called Dunnigan type FPLD or FPLD2) and are caused by mutations in the Lamin A/C (LMNA) gene being inherited in an autosomal dominant pattern [13]. Patients suffering from FPLD2 can also develop myopathy, cardiomyopathy, and coronary artery disease and have a smaller prevalence of AP.
A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalities
Published in Endocrine Research, 2019
Basak Ozgen Saydam, Melda Sonmez, Ilgin Yildirim Simsir, Mehmet Sercan Erturk, Mustafa Kulaksizoglu, Tugba Arkan, Zeliha Hekimsoy, Umit Cavdar, Gulcin Akinci, Tevfik Demir, Canan Tuncer Altay, Ercan Mihci, Mustafa Secil, Baris Akinci
In this present study, we described clinical characteristics of several patients with APL who developed severe metabolic abnormalities. Previous studies seldom reported metabolic abnormalities in patients with APL.1,9 However, a recent study by our group showed that patients with APL may develop metabolic abnormalities during follow-up12, although they were usually mild. Lack of adipose tissue in patients with generalized lipodystrophy (GL) causes severe insulin resistance which is associated with poorly controlled diabetes, severely elevated triglyceride levels, and hepatic steatosis.14 Limited lipid storage capacity in patients with PL may also cause failure of buffering postprandial lipids and decreased secretion of adipokines such as leptin and adiponectin that in turn result in metabolic abnormalities associated with insulin resistance.9,12 Supporting this, familial partial lipodystrophy (FPLD), a genetic lipodystrophy syndrome characterized by selective progressive loss of subcutaneous adipose tissue mainly from the limbs and lower part of the body, has been clearly associated with insulin-resistant diabetes, elevated triglyceride levels, and hepatic steatosis.1,15
Novel emerging therapies in atherosclerosis targeting lipid metabolism
Published in Expert Opinion on Investigational Drugs, 2020
Manasvi Gupta, Colin Blumenthal, Subhankar Chatterjee, Dhrubajyoti Bandyopadhyay, Vardhmaan Jain, Carl J Lavie, Salim S. Virani, Kausik K Ray, Wilbert S Aronow, Raktim K Ghosh
At present, volanesorsen is approved in the European Union for patients with genetically confirmed FCS with a high risk of pancreatitis with inadequate response to traditional TG-lowering drugs. Multiple trials are underway to broaden the indications of this drug in other conditions including familial partial lipodystrophy [55]. While the role of TGs and genetic polymorphisms of apo-CIII are being increasingly recognized as a mechanism for ASCVD, volanesorsen has not been shown to improve overall cardiovascular outcomes [57].