Endo-ERN webinar: Understanding Lipodystrophy

On Wednesday July 8th 15:00 – 16:00 CET an Endo-ERN webinar about “Understanding Lipodystrophy” is organised.

The webinar will be held by Prof Giovanni Ceccarini from Obesity and Lipodystrophy Centre, Endocrinology Unit, Azienda Ospedaliero Universitaria Pisana in Italy and Dr. Rebecca Sanders, patient representative of Lipodystrophy UK & representative of European patients inside the Registry Board of ECLip.

Lipodystrophy syndromes are a group of rare (estimated prevalence of 3/1.000.000 if excluding HIV-related forms) and heterogeneous disorders characterized by the complete or partial loss of adipose tissue, in the absence of a nutritional deprivation or a catabolic state.

Lipodystrophy syndromes are usually associated with the development of metabolic syndrome, caused by the abnormal deposition of fat that cannot be stored in appropriate subcutaneous depots. In this event, surplus calories can only be stored as ectopic fat in liver, muscle tissue and other internal organs resulting in insulin resistance, diabetes mellitus, hypertriglyceridemia, and hepatic steatosis or steatohepatitis. Other features include, but are not restricted to, muscle pseudo-hypertrophy, polycystic ovary syndrome, cardiopathies, chronic pain and, overall, in many cases, a marked reduction of the quality of life.

Loss of adipose tissue also results in a decrease of serum leptin levels that interferes with hunger-satiety signals, leading to hyperphagia, aggravating the metabolic alterations ad thus sustaining a vicious cycle.

Recognition of lipodystrophy is based on clinical history, physical and instrumental examination. Because Lipodystrophies are rare and heterogeneous, frequently the disease is unrecognized or misdiagnosed. This is unfortunately a common experience for many patients who become frustrated by not being able to give a unifying explanation to their constellation of symptoms and disorders.