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Regional body fat changes and metabolic complications in children with Dunnigan lipodystrophy-causing LMNA variants

Journal of Clinical Endocrinology & Metabolism Mar 06, 2019

Patni N, et al. - From the National Health and Nutrition Examination Survey (NHANES) 2005 to 2010, researchers compared metabolic parameters and regional body fat in children (aged 1 to 18 years) with familial partial lipodystrophy, Dunnigan variety (FPLD2), a rare autosomal-dominant disorder due to heterozygous missense lamin A/C (LMNA) mutations, with the sex- and age-matched controls. In this study involving 32 affected females and 14 males, the onset of fat loss from the extremities occurs well before the onset of puberty, particularly in girls with FPLD2. High serum triglycerides are seen with severe loss of fat from the extremities in young females with FPLD2. In males with FPLD2, serum triglycerides were not significantly different from controls.
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