Familial partial lipodystrophy (FPL)
What is Familial Partial Lipodystrophy (FPL)?
Familial partial lipodystrophy (FPL) is a rare genetic metabolic disease characterized by selective, progressive loss of body fat (adipose tissue) from various areas of the body leading to ectopic fat deposition in liver and muscle and development of insulin resistance, diabetes, dyslipidemia, and fatty liver disease.1
People with FPL often present with polycystic ovarian syndrome or unusually insulin-resistant diabetes and are at increased risk of acute pancreatitis in addition to long-term, progressive consequences including premature cardiovascular disease and liver disease, resulting in cirrhosis. They are unable to store fat or triglycerides in normal fat stores, so excess triglycerides are stored in the liver and muscle and accumulate at high levels in the bloodstream.1
FPL is a highly burdensome disease, leading to significant metabolic complications that are not managed by current therapies, and it is a distressing condition for the patient.
How common is FPL?
Prevalence is defined by the total number of cases of a disease existing in a given place and period, implying that it occurs and remains existing at a given time.1, In this case, the worldwide prevalence of Lipodystrophy is 3.07 cases per million inhabitants. 2.84 cases/million are for Partial Lipodystrophy.2
Bibliographic research considering the European database, it was estimated that the prevalence of LG and LP was 0.96% and 1.67 cases per million inhabitants, respectively.2 However, its prevalence is probably underestimated because FPL is often misdiagnosed or underdiagnosed, particularly in men.3
How is PTC working to treat Familial Partial Lipodystrophy?
Waylivra® (volanesorsen) is approved in Brazil for the treatment of familial partial lipodystrophy (FPL). This is the first approval globally for Waylivra for the FPL indication. Waylivra is also approved in Brazil for the treatment of Familial Chylomicronemia Syndrome (FCS). Waylivra has received conditional marketing approval in the European Union as a treatment for FCS. In addition, Waylivra has been granted Orphan Drug Designation by the European Medicines Agency for the treatment of FCS.
Waylivra has been in-licensed for commercialization in Latin America by PTC Therapeutics from Akcea Therapeutics, Inc., a wholly owned subsidiary of Ionis. Waylivra is a product of Ionis Pharmaceuticals, Inc.’s proprietary antisense technology.
 Brown RJ, Araujo-Vilar D, Cheung PT, et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016;101(12):4500-4511. doi:10.1210/jc.2016-2466
 Chiquette E, Oral EA, Garg A, Araújo-Vilar D, Dhankhar P. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes. 2017;10:375-383. Published 2017 Sep 13. doi:10.2147/DMSO.S130810
 Oral et al, Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study, Journal of Clinical Lipidology, https://doi.org/10.1016/j.jacl.2022.08.00