Internal medicine

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Lipodystrophy

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Medicine

Journal of clinical lipidology

Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by variable loss of subcutaneous adipose tissue from the peripheral depots and increased adipose tissue accumulation in other body regions such as the face, chin, neck, perineum, and intra-abdominal area.1-3 This adipocyte loss is associated with severe insulin resistance that can lead to diabetes mellitus, hypertriglyceridemia, and nonalcoholic steatohepatitis.1,2 Onset of loss of subcutaneous fat from the extremities typically occurs during prepuberty or puberty.

Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study