Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency
Status:
Recruiting
Trial end date:
2022-12-30
Target enrollment:
Participant gender:
Summary
Lipoprotein lipase (LPL) is an enzyme that plays an important role in removing triglycerides
(TG) (molecules that transport dietary fat) from the blood. Patients with LPL deficiency
(LPLD) display during their whole life very high plasma TG levels often associated with
episodes of postprandial abdominal pain, malaise, blurred vision, dizziness
(hyperchylomicronemia syndrome) that may lead to recurrent pancreatitis episodes. Because of
their very slow clearance in blood of their chylomicron-TG, these patients need to severely
restrict their dietary fat intake to avoid these complications. Fortunately, novel treatments
are being developed to circumvent LPL deficiency (LPLD) metabolic effect on chylomicron-TG
clearance. However, there is no data on how LPLD affect organ-specific dietary fatty acid
metabolism nor how the novel therapeutic agents may change this metabolism. For example, it
is currently not understood how subjects with LPLD store their DFA into adipose tissues and
whether they are able to use DFA as a fuel to sustain their cardiac metabolism, as healthy
individuals do. This study aims to better understand theses two questions.