Hypertriglyceridaemia: Therapeutic Targets, Genetic Causes, and Associated Neuropathy

What this Trial Is About

Researchers are studying hypertriglyceridaemia, a condition with high levels of triglycerides in the blood, to better understand its causes, effects, and treatment targets. The study focuses on patients with raised triglycerides who may have normal LDL-cholesterol but elevated apolipoprotein B (apoB), which could indicate ongoing cardiovascular risk. The trial also explores nerve damage related to severe hypertriglyceridaemia and investigates genetic causes, including lysosomal acid lipase deficiency, which is often underdiagnosed in these patients. The study has three main parts: the therapeutic target arm, the nerve function arm, and the genetic screening arm. The therapeutic target arm includes statin-treated patients with and without diabetes or chronic kidney disease, assessing apoB levels and inflammation markers. The nerve function arm evaluates nerve damage in patients with severe hypertriglyceridaemia using nerve function tests and corneal confocal microscopy. The genetic screening arm recruits patients with very high triglyceride levels or specific lipid abnormalities to identify genetic mutations and screen for lysosomal acid lipase deficiency and familial hypercholesterolaemia. Participants will undergo blood tests to measure apoB and inflammatory markers, nerve function assessments, and genetic testing depending on their study arm. Researchers will monitor lipid levels, nerve damage, and genetic markers to better understand the risks and causes associated with hypertriglyceridaemia. The study involves one-day measurements for apoB and ongoing assessments over several years, with participant involvement tailored to each arm's focus and needs.

Abnormal Lipids - Causes and Effects