SYNOPSISLipodystrophies are a group of heterogeneous disorders characterized by varying degrees of body fat loss and predisposition to insulin resistance and its metabolic complications. They are subclassified depending on the degree of fat loss and whether the disorder is genetic or acquired. The two most common genetic varieties include congenital generalized lipodystrophy and familial partial lipodystrophy; and the two most common acquired varieties include acquired generalized lipodystrophy and acquired partial lipodystrophy. Highly active antiretroviral therapy-induced lipodystrophy in HIV-infected patients and drug-induced localized lipodystrophy are other common subtypes. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus and its complications, hypertriglyceridemia that may be severe enough to cause acute pancreatitis, and hepatic steatosis that may lead to cirrhosis. The severity of the metabolic abnormalities is usually proportional to the extent of fat loss, with patients with congenital and acquired generalized lipodystrophies developing complications at early ages. Localized lipodystrophy does not have associated metabolic derangements and it is mostly a cosmetic problem. Management of lipodystrophies focuses on preventing and treating metabolic complications. Diet and exercise are an integral part of management. Conventional therapies, including metformin and insulin, are used to treat diabetes mellitus and lipid-lowering drugs are used to treat dyslipidemia. Patients with generalized lipodystrophy have markedly reduced serum leptin levels and metreleptin replacement therapy has been used successfully in such patients to improve metabolic profile.

Lipodystrophies are rare, heterogeneous, genetic or acquired, disorders characterised by varying degrees of body fat loss and associated metabolic complications, including insulin resistance, dyslipidaemias, hepatic steatosis and predisposition to atherosclerotic vascular disease. The four main types of lipodystrophy, excluding antiretroviral therapy-induced lipodystrophy in HIVinfected patients, are congenital generalised lipodystrophy (CGL), familial partial lipodystrophy (FPLD), acquired generalised lipodystrophy (AGL) and acquired partial lipodystrophy (APL). This paper reviews the literature related to the prevalence of dyslipidaemias and atherosclerotic vascular disease in patients with lipodystrophies. Patients with CGL, AGL and FPLD have increased prevalence of dyslipidaemia but not those with APL. Patients with CGL as well as AGL present in childhood, and have severe dyslipidaemias (mainly hypertriglyceridaemia) and early onset diabetes mellitus as a consequence of extreme fat loss. However, only a few patients with CGL and AGL have been reported to develop coronary heart disease. In contrast, data from some small cohorts of FPLD patients reveal increased prevalence of atherosclerotic vascular disease especially among women. Patients with APL have a relatively low prevalence of hypertriglyceridaemia and diabetes mellitus. Overall, patients with lipodystrophies appear to be at high risk of atherosclerotic vascular disease due to increased prevalence of dyslipidaemia and diabetes and efforts should be made to manage these metabolic complications aggressively to prevent atherosclerotic vascular disease.

Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with APS as well as patients with Hutchinson-Gilford progeria syndrome. We propose that they be recognized as having generalized lipodystrophy-associated progeroid syndrome. Patients with generalized lipodystrophy-associated progeroid syndrome should undergo careful multisystem assessment at onset and yearly metabolic and cardiac evaluation, as hyperglycemia, hypertriglyceridemia, hepatic steatosis, and cardiomyopathy are the major contributors to morbidity and mortality.

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Context Radiofrequency ablation (RFA) has only recently gained popularity in the USA for treatment of thyroid nodules (TNs), with a limited number of patients having undergone the procedure in this country. Objective To evaluate safety and efficacy of RFA of TNs performed in an outpatient setting in the USA. Design, Setting, Patients and Interventions This is a retrospective, single-center study of 53 patients who underwent RFA of 58 TNs between November 2018 and January 2021. Main Outcome Measures Reduction in volume of nodule, cosmetic and symptomatic improvement, effect on thyroid function, and complications following RFA were assessed. Results Eleven out of 53 patients were excluded from the analysis. A total of 47 benign TNs: 23 non-functioning thyroid nodules (NFTNs) and 24 autonomously functioning thyroid nodules (AFTNs), were assessed post RFA. The median reduction in volume was 70.8% after a median follow-up of 109 days, with symptomatic and cosmetic improvement (p value: < 0.0001). Compared to larger nodules, smaller nodules had greater volume reduction (p value: 0.0266). RFA improved TSH in AFTNs (p value = 0.0015) and did not affect TSH in NFTNs (p value = 0.23). There were no major complications, however one patient had self-limited local bleeding and another had transient voice change that recovered in 6 months. Conclusions RFA is a safe and efficacious treatment for symptomatic NFTNs and AFTNs in our population; and is especially effective for smaller nodules. RFA should be considered an alternative for TNs in patients who cannot get or do not want surgery.