What is Berardinelli-Seip?
Summary. Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is a rare genetic disorder characterized by the near total loss of body fat (adipose tissue) and extreme muscularity that is often present at birth or soon thereafter.
What is the life expectancy of someone with lipodystrophy?
Age at death (years-old) of Berardinelli-Seip Congenital Lipodystrophy patients according to the year of death. Life expectancy for the study population was 62.9±4.8 years. The potential number of years of life lost was 35.6±16.6 years.
What causes lipodystrophy?
Often, doctors don’t know what causes acquired lipodystrophy, but some triggers are: An infection, such as measles, pneumonia, infectious mononucleosis, or hepatitis. A disease where your immune system attacks your body (called an autoimmune disease) Repeated injections in or pressure on the same place on your body.
What is acquired generalized lipodystrophy?
Acquired generalized lipodystrophy (AGL) is a rare disease characterized by loss of subcutaneous adipose tissue with severe insulin resistance leading to diabetes, hypertriglyceridemia, and nonalcoholic steatohepatitis. Twenty-five percent of AGL cases are associated with autoimmune diseases (2).
Is lipodystrophy hereditary?
Most cases of familial partial lipodystrophy, including type 2, are inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent.
How do you get rid of Lipoatrophia?
Treatments for fat accumulation that have been reported in the literature include diet and exercise, growth hormone (Serostim), and metformin (Glucophage). Treatments for lipoatrophy that have been reported include antiretroviral switches and treatment with thiazolidinediones (glitazones).
Is lipodystrophy serious?
Lipodystrophy is a progressive condition that can cause serious complications, including multi-organ damage, fatty deposits in the liver, kidney damage, PCOS, and insulin resistance.
How do I know I have lipodystrophy?
What are the signs and symptoms of Lipodystrophy?
- Reduced fat tissue: There may be a notable absence of fat under the skin and this can be associated with the increased prominence of muscles and blood vessels.
- Skin changes: Lipodystrophy is often associated with increases in insulin production by the pancreas.