What is Familial Partial Lipodystrophy

Familial Partial Lipodystrophy is a rare genetic disorder characterized by the abnormal distribution of fat in the body. It is also known as Dunnigan-type lipodystrophy or adiposis dolorosa. This condition typically affects subcutaneous fat, which is the fat located just beneath the skin, leading to a loss of fat in certain areas and an excess accumulation in others.

One of the key features of Familial Partial Lipodystrophy is the loss of fat in the arms, legs, buttocks, and face, resulting in a thin and muscular appearance in these areas. Conversely, fat tends to accumulate in the neck, trunk, and abdomen, leading to a characteristic apple-shaped body. This abnormal fat distribution can cause various health complications, including metabolic abnormalities such as insulin resistance, diabetes mellitus, and high cholesterol levels.

Familial Partial Lipodystrophy is an inherited condition caused by mutations in specific genes involved in fat metabolism. It is typically passed down in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.

Management of Familial Partial Lipodystrophy involves a multidisciplinary approach, including dietary modifications, exercise, and medications to control associated metabolic abnormalities. Additionally, cosmetic procedures may be considered to address the physical appearance concerns associated with the condition.