- Lipodystrophies are a heterogeneous group of rare diseases that are characterized by a generalized or partial absence of adipose tissue. Lipodystrophies predispose to the development of metabolic complications similar to those observed in obesity, which include alterations in lipid metabolism (increase in triglycerides and decrease in HDL), as well as insulin resistance and diabetes mellitus, entities associated with an increase in the risk of premature atherosclerosis.
- The metabolic complications of lipodystrophy are key in morbidity and mortality. Adipose mass deficiency results in leptin deficiency, leading to hyperphagia and ectopic lipid storage, causing insulin resistance. Insulin resistance and associated complications include diabetes mellitus, hypertriglyceridemia, nonalcoholic fatty liver disease, polycystic ovaries, acanthosis nigricans, and premature atherosclerosis.
- Genetically based lipodystrophy includes congenital generalized lipodystrophy (CGL), familial partial lipodystrophy (FLP), and other systemic disorders associated with lipodystrophy such as progeroid lipodystrophy syndromes and autoinflammatory lipodystrophies.
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