Which autosomal dominant condition is due to a deficiency in ApoE?

Familial dysbetalipoproteinemia is an autosomal dominant condition characterized by a deficiency in apolipoprotein E (ApoE). ApoE plays a crucial role in lipid metabolism, particularly in the clearance of chylomicron remnants and very low-density lipoproteins (VLDL) from the bloodstream. When there is a deficiency of ApoE, the body struggles to effectively remove these lipoproteins from circulation, leading to their accumulation and resulting in increased levels of cholesterol and triglycerides.

Patients with familial dysbetalipoproteinemia often present with symptoms related to hyperlipidemia, such as xanthomas (fatty deposits in the skin) and atherosclerosis, which can increase the risk of cardiovascular disease. The genetic deficiency in ApoE contributes to this abnormal lipid profile, providing the link between the condition and the metabolic disturbances observed.

In contrast, familial hypercholesterolemia is primarily associated with mutations in the LDL receptor, leading to elevated low-density lipoprotein (LDL) cholesterol levels rather than a deficiency in ApoE. Familial hypertriglyceridemia and familial lipoprotein lipase deficiency are also related to different genetic aberrations affecting triglyceride metabolism and lipoprotein interactions in