LPPR3
Title: Lipoprotein Lipase Deficiency (LPLD): A Rare Inherited Disorder of Lipid Metabolism
Description:
Lipoprotein lipase deficiency (LPLD) is a rare autosomal recessive genetic disorder characterized by an absence or severe deficiency of lipoprotein lipase (LPL), an enzyme responsible for hydrolyzing triglycerides in chylomicrons and very-low-density lipoproteins (VLDLs). This leads to impaired lipid metabolism, causing the accumulation of triglycerides in the bloodstream and tissues.
Associated Diseases:
LPLD can lead to several cardiovascular complications, including:
- Hypertriglyceridemia (high levels of triglycerides in the blood)
- Pancreatitis (inflammation of the pancreas)
- Atherosclerosis (hardening of the arteries)
- Coronary artery disease
- Stroke
Did you Know ?
LPLD is estimated to affect approximately 1 in every 100,000 individuals worldwide. However, it is underdiagnosed, potentially due to its rarity and non-specific symptoms.
