Purpose of review:
Lipodystrophy syndromes have an estimated prevalence of 1.3–4.7 cases per million and as with other rare diseases conducting research can be challenging. The purpose of this review is to highlight recently published work that has provided important insights into the field of non-HIV associated lipodystrophy syndromes.
Recent findings: Lipodystrophies are a heterogenous group of disorders and as such research is often focused on specific subtypes of the condition. The identification of children affected by LMNA mutations provided insights into the natural history of FPLD2, specifically that the adipose tissue phenotype predates the onset of puberty. Recent reports of heterozygous null variant carriers and the apparent absence of a lipodystrophy phenotype challenges our understanding of the molecular biology of perilipin 1 and its role in the pathogenesis of FPLD4. With a focus on therapeutics, studies delineating the differential responsiveness of PPAR gamma mutants to endogenous and synthetic ligands illustrated the potential for pharmacogenetics to inform therapeutic decisions in lipodystrophy due to PPARG mutations, while robust human studies have contributed important insights into the food independent metabolic effects of leptin in lipodystrophy. Finally, rare syndromes of lipodystrophy continue to serve as an exemplar for the contribution of genetically determined adipose tissue expandability to metabolic disease in the general population.
Keywords: Lipodystrophy; LMNA; PLIN1; PPARG; Leptin
