Advances in the Diagnosis and Management of Rare Disorders - Episode 2

Taking a Closer Look at Lipodystrophy

The panel begins the discussion about specific rare diseases by focusing on lipodystrophy, a condition that can result in the loss of body fat from different parts of a patient’s body. The panelists also discuss familial hypercholesterolemia and familial chylomicronemia syndrome.

Moderator Abhimanyu Garg, MD, talks about some of the symptoms of lipodystrophy that can result in patients being predisposed to insulin resistance. Garg says patients have seen improvement in their condition after undergoing leptin replacement therapy.

Familial hypercholesterolemia can result in very high levels of cholesterol, which in young patients can cause premature stroke or heart attack. Garg notes that familial chylomicronemia syndrome is due to an enzyme deficiency that can cause potentially deadly pancreatitis.