Disorders of lipid and lipoprotein metabolism

Disorders of Lipid and Lipoprotein Metabolism

Overview:
Disorders of lipid and lipoprotein metabolism are inherited or acquired conditions that cause abnormal levels, production, transport, or breakdown of lipids and lipoproteins in the blood. They may lead to hypercholesterolemia, hypertriglyceridemia, mixed dyslipidemia, premature atherosclerosis, pancreatitis, and cardiovascular disease.

Conditions Covered

• Familial hypercholesterolemia
• Familial combined hyperlipidemia
• Familial hypertriglyceridemia
• Familial dysbetalipoproteinemia
• Hyperlipoproteinemia
• Hypobetalipoproteinemia
• Abetalipoproteinemia
• Chylomicronemia syndromes
• Lipoprotein lipase deficiency
• ApoC-II deficiency
• HDL deficiency disorders
• Tangier disease
• Sitosterolemia
• Lysosomal acid lipase deficiency
• Other inherited lipid metabolism disorders

Genes Commonly Associated

LDLR, APOB, PCSK9, LDLRAP1, LPL, APOC2, APOA5, APOE, LMF1, GPIHBP1, ABCG5, ABCG8, LIPA and other clinically relevant genes.

Clinical Indications

Testing may be considered in individuals with:

• Very high LDL-cholesterol or triglycerides
• Unexplained mixed dyslipidemia
• Premature coronary artery disease
• Recurrent pancreatitis associated with severe hypertriglyceridemia
• Tendon xanthomas or other lipid deposits
• Suspected inherited dyslipidemia
• Strong family history of premature cardiovascular disease
• Persistent abnormal lipid profile despite appropriate lifestyle measures

Test Method

Next-Generation Sequencing (NGS) with bioinformatic analysis for clinically relevant genetic variants. Depending on the panel, deletion/duplication analysis may also be included.

Clinical Utility

Genetic testing can help establish a molecular diagnosis, support risk assessment, guide appropriate management, and facilitate cascade screening of family members when an inherited lipid disorder is identified.

Sample: Peripheral blood / EDTA whole blood
Interpretation: Results should be interpreted along with lipid profile, clinical findings, family history, and other relevant investigations.