Diszlipoproteinemia

Diszlipoproteinemia is a term used for disorders characterized by abnormal concentrations or composition of lipoproteins in the blood. Abnormalities may involve elevated atherogenic lipoproteins such as LDL and VLDL, reduced HDL, or altered particle size. These conditions increase the risk of atherosclerotic cardiovascular disease and, in cases of severe hypertriglyceridemia, pancreatitis.

Most forms are categorized as primary (genetic) or secondary (acquired). Classic patterns include Type I hyperchylomicronemia; Type IIa familial hypercholesterolemia (high LDL); Type IIb combined hyperlipidemia (high LDL and VLDL); Type III dysbetalipoproteinemia (remnant particles, often due to ApoE variants); Type IV hypertriglyceridemia (high VLDL); and Type V (mixed chylomicrons and VLDL). Underlying causes involve mutations affecting LDL receptor, ApoB, PCSK9, ApoE, or lipoprotein lipase pathways.

Causes include inherited genetic disorders (primary) and secondary factors such as diabetes, hypothyroidism, nephrotic syndrome, obesity, renal or hepatic disease, alcohol use, pregnancy, and certain medications.

Diagnosis relies on a fasting lipid panel (total cholesterol, LDL-C, HDL-C, triglycerides). Additional testing may include apolipoprotein B, ApoE genotype, and genetic panels. Evaluation for secondary causes and cardiovascular risk assessment are common components.

Management emphasizes lifestyle modification and risk reduction. Pharmacologic therapy targets the dominant abnormality: statins for elevated LDL, with ezetimibe or PCSK9 inhibitors as needed; fibrates or omega-3 fatty acids for hypertriglyceridemia. In severe cases, plasmapheresis or insulin is used acutely; family screening is recommended for suspected genetic forms.