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August 2000
Case of the Month: A 17-year-old HIV-infected female presents with shoulder/back swelling and weight gain in her trunk. She denies any recent trauma or pain at the site.
Answer: Antiretroviral Associated Lipodystrophy Syndrome
Discussion: Lipodystrophy syndrome is a condition best described in HIV-infected adults. Although the pathogenesis of the condition is debated, many studies suggest an association with highly active antiretroviral therapy (HAART). The condition presents with both physical and metabolic abnormalities. Physical features include peripheral fat wasting (face, limbs, buttocks), increased fat deposition in the abdomen and/or dorsocervical spine (buffalo hump), and breast enlargement in women. Cross-sectional imaging studies, using CT or MRI scanning, confirm loss of subcutaneous adipose tissue (SAT) and often show an accumulation of mesenteric fat, retroperitoneal fat or both. Metabolic abnormalities include hypercholesterolemia, hypertriglyceridemia, impaired glucose tolerance and diabetes mellitus. The patient pictured above had dorsocervical enlargement and increased abdominal girth. Laboratory studies revealed elevated serum triglyceride levels (202 - 413 mg/dL).
 Despite the well-recognized features of lipodystrophy, there remains considerable debate and confusion in the field. There is no accepted case definition and no consensus regarding its etiology. Hypotheses regarding its etiology have included mitochondrial toxicity, underlying genetic predisposition, cytokine activation, immune reconstitute, and hormonal influences. Studies evaluating the prevalence of lipodystrophy in HIV-infected children currently are in progress, but anecdotal observations suggest that the prevalence is low. Long term complications of lipodystrophy have yet to be elucidated, but concerns for cardiovascular complications (e.g., atherosclerosis) are at the forefront.
Studies to evaluate treatment of lipodystrophy currently are in progress. These include evaluation of growth hormone, switching from PI-based HAART to NNRTI-based HAART, pharmacologic management of insulin resistance (e.g., Metformin) and hyperlipidemia, and the effects of diet and exercise.
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