Endocrine Abstracts

Lipodystrophy is a rare disease characterized by generalized or partial lack of adipose tissue. Lipodystrophy is associated with leptin deficiency and leads to severe insulin resistance and metabolic abnormalities. A previous literature review reported an estimated prevalence of less than one in a million based on the assumption that only one-fourth of the patients with lipodystrophy may have been reported. Later, the prevalence of lipodystrophy was estimated through a search of electronic medical records that revealed a prevalence of 1.3–4.7 cases/million. The prevalence of lipodystrophy in Europe was reported as 2.63 cases/million (0.96 and 1.67 cases/million for generalized and partial lipodystrophy, respectively). In contrast to previous estimates, a recent study in the United States (US), using large clinical cohorts, reported an estimated clinical prevalence of lipodystrophy disorders of 1 in 20,000 individuals, with an estimated genetic prevalence of disease of ~1 in 7,000 in the general population. In this session, we will shortly review the natural history of lipodystrophy and try to understand why lipodystrophy is an underdiagnosed condition and many patients with lipodystrophy experience a long journey to diagnosis. We will look at specific subtypes of lipodystrophy which create a real diagnostic challenge. We will also have a deeper look at the recent US prevalence study and discuss the possibility of overestimation of the prevalence of lipodystrophy based on the methodology used. Finally, we will explore innovative ways of diagnosing lipodystrophy and overview basic tips that can help overcome this diagnostic challenge.