Generalised and partial lipodystrophy are rare and complex diseases with a progressive clinical and humanistic burden resulting from the selective absence of subcutaneous adipose tissue, leading to reduced energy storage capacity and a deficiency of adipokines such as leptin. Treatment options were limited before leptin replacement therapy (metreleptin) became available. This retrospective study evaluates the clinical and humanistic consequences of disease and treatment.
Data were extracted from a cohort of patients with generalised and partial lipodystrophy treated with metreleptin (n = 112) at the US National Institutes of Health. To quantify the quality-of-life consequences of lipodystrophy disease attributes recorded in the chart data, a discrete choice experiment was conducted in 6 countries (US, n = 250; EU, n = 750). The resulting utility decrements were used to estimate the adjusted quality-of-life consequences of changes in the prevalence of lipodystrophy attributes before and after metreleptin.
In addition to metabolic impairment, patients with generalised and partial lipodystrophy experienced a range of consequences of lipodystrophy, including liver abnormalities (94%), hyperphagia (79%), impaired physical appearance (77%), renal abnormalities (63%), reproductive dysfunction (80% of women of reproductive age) and pancreatitis (39%). Improvement in these attributes was observed after initiation of metreleptin. The quality-adjusted life-year gains associated with 12 months of metreleptin treatment were estimated at 0.313 for generalised lipodystrophy and 0.117 for partial lipodystrophy, reducing the difference in quality of life between untreated lipodystrophy and perfect health by approximately 59% and 31%, respectively.
This study demonstrates that metreleptin is associated with significant clinical and quality of life improvements in patients with generalised and partial lipodystrophy.
You can find all the information about the study at the following link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7993583/
