Berardinelli-Seip congenital lipodystrophy

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare condition that falls under the group of lipodystrophies. It is marked by a near total absence of body fat (lipoatrophy) along with a number of metabolic imbalances. People with this condition may have abnormally high levels of triglycerides in the blood (hypertriglyceridemia), an enlarged liver (hepatomegaly), and acromegaloid features which refer to changes in physical appearance such as enlarged hands, feet, or facial features. BSCL is considered as part of the extreme insulin resistance syndromes along with conditions like leprechaunism and Rabson-Mendenhall syndrome. This overview provides basic information to understand that the disease affects body metabolism and fat distribution in a significant way.

Common symptoms of BSCL include a lack of fat tissue (lipoatrophy), high levels of triglycerides in the blood (hypertriglyceridemia), and an enlarged liver (hepatomegaly). People with this condition may also show acromegaloid features, which are changes in the appearance of the hands, feet, and facial features.

Information about causes is currently limited for this condition.

Information about treatment options and management is currently limited for this condition.

Information about prognosis and quality of life considerations is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.