Disease

Disease name: Dyslipidemia

ICD-10 Disease Code: E78 - Disorders of lipoprotein metabolism and other lipidemias

ICD-10 Disease Group: E70-E88 - Endocrine, nutritional and metabolic diseases

General description:

Dyslipidemias are a group of disorders characterised by an imbalance of lipids in the blood, e.g., low-density-lipoprotein (LDL) and triglycerides. Higher LDL levels are associated with a higher risk of cardiovascular disease. Higher triglyceride levels combined with low high-density-lipoprotein (HDL) cholesterol or high LDL cholesterol is associated with atherosclerosis, the buildup of fatty deposits in artery walls that increases the risk for heart attack, peripheral artery disease (PAD) and stroke. 

Dyslipidemia most often manifests as elevated levels of lipids. Dysbetalipoproteinemia is a rare combined hyperlipidemia (HLP type 3) characterised by high levels of cholesterol and triglycerides, and an increased risk of progressive atherosclerosis and premature cardiovascular disease. Severe dyslipidemia is defined as LDL-C levels ≥190 mg/dL. Specific examples of dyslipidemia include familial hypercholesterolemia and phytosterolemia.

Diabetes can lower the beneficial HDL cholesterol levels and raise triglycerides and LDL cholesterol levels, leading to diabetic dyslipidemia which increases the risk for heart disease and stroke.

Abnormal levels of lipoproteins may be related to genetic alterations in 40% to 60% of dyslipidemia cases.

Mutations:

Several genes have been implicated in increasing the genetic risk of developing cardiovascular disease: Rare genetic variants in the LDLR gene are identified as conferring a higher risk of cardiovascular disease, while variants in the APOA5 gene are associated with high triglyceride levels. LDLR, ApoB, PCSK9 and LDLRAP1 have all been proven to be implicated in familial hypercholesterolemia. Mutations in ABCG5 and ABCG8 are associated with phytosterolemia.

Disease frequency:

The CDC reports that the US prevalence of severe dyslipidemia is 6.6%. Familial hypercholesterolemia affects approximately 1 in 500 individuals in the general population.

Symptoms:

High levels of LDL cholesterol.

Low levels of HDL cholesterol.

High levels of triglycerides.

Treatment:

Treatment involves preventing and treating abnormal cholesterol levels. Regular monitoring of individual lipid levels is crucial where a person carries a genetic variant known to increase disease risk. Cholesterol lowering drugs include statins, Ezetimibe, bile acid-binding agents, PCSK9 inhibitors, ACL inhibitors, fibrates, nicotinic acid, and others.

Sources:

Tags

HashtagDyslipidemia

close
Search CRISPR Medicine