From the Research
Flp refers to Familial Lipoprotein Lipase deficiency, a rare autosomal recessive genetic disorder caused by mutations in the LPL gene, leading to impaired or non-functional lipoprotein lipase enzyme and severe hypertriglyceridemia. This condition is characterized by high plasma levels of triglycerides, chylomicron remnants, or intermediate density lipoprotein like particles, and/or chylomicrons, which can increase the risk of acute pancreatitis and premature cardiovascular disease 1. The diagnosis of Flp is typically made through genetic testing, which can identify mutations in the LPL gene, such as the homozygous nonsense mutation c.1277G > A (p.Trp409Ter) reported in a 72-year-old Japanese woman with LPL deficiency 2.
Some key features of Flp include:
- Severe hypertriglyceridemia, with plasma triglyceride levels often exceeding 1000 mg/dL
- Impaired or non-functional lipoprotein lipase enzyme, leading to reduced triglyceride hydrolysis activity
- Increased risk of acute pancreatitis and premature cardiovascular disease
- Variable clinical presentation, ranging from asymptomatic to severe symptoms such as eruptive cutaneous xanthomata, abdominal pain, and pancreatitis
Treatment of Flp typically involves lipid-lowering therapies, such as fenofibrate, gemfibrozil, and pemafibrate, which can help reduce plasma triglyceride levels and decrease the risk of pancreatitis and cardiovascular disease 3, 2, 4. In some cases, therapeutic plasma exchange may be necessary to rapidly reduce triglyceride levels and prevent recurrence of acute pancreatitis 3. The most effective treatment approach for Flp is to use pemafibrate, which has been shown to reduce serum triglycerides and increase hepatic lipase activity in patients with LPL deficiency 2.