IllnessHypercholesterolaemia, familial; differential diagnosis

NGS + SNP

[Sanger}

Familial hypercholesterolaemia (FH) is characterised by highly elevated levels of LDL cholesterol (LDL-C), which at a young age leads to the deposition of atherosclerotic plaques in the coronary arteries and proximal aorta, resulting in an increased risk of cardiovascular disease. 70 to 95% of cases result from a heterozygous pathogenic variant in one of three genes (APOB, LDLR, PCSK9). Homozygous FH results from biallelic (homozygous or compound heterozygous) pathogenic variants in one of these genes (APOB, LDLR, PCSK9). Most patients with homozygous FH already suffer from severe CHD in their mid-20s.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK174884/

• Allelic: Alzheimer disease 2 (APOE)
• Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
• Allelic: Amyloidosis, 3 or more types (APOA1)
• Allelic: Coronary artery disease, severe, susceptibility to (APOE)
• Allelic: Gallbladder disease 4 (ABCG8)
• Allelic: Growth hormone insensitivity, partial (GHR)
• Allelic: High density lipoprotein cholesterol level QTL 11 (LPL)
• Allelic: Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding (APOA1)
• Allelic: Increased responsiveness to growth hormone (GHR)
• Allelic: LDL cholesterol level QTL2 (LDLR)
• Allelic: Laron dwarfism (GHR)
• Allelic: Lipoprotein glomerulopathy (APOE)
• Allelic: Lipoprotein lipase deficiency (LPL)
• Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
• Allelic: Macular degeneration, age-related (APOE)
• Allelic: Sea-blue histiocyte disease (APOE)
• ApoA-I + apoC-III deficiency, combined (APOA1)
• Apolipoprotein C-III deficiency (APOC3)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Cholesteryl ester storage disease (LIPA)
• Combined hyperlipidemia, familial (LPL)
• Hypercholesterolemia [panelapp] (STAP1)
• Hypercholesterolemia, familial, 1 (LDLR)
• Hypercholesterolemia, familial, 2 (APOB)
• Hypercholesterolemia, familial, 3 (PCSK9)
• Hypercholesterolemia, familial, 4 (LDLRAP1)
• Hypercholesterolemia, familial, modifier of (GHR)
• Hyperlipidemia, familial combined, susceptibility to (USF1)
• Hyperlipoproteinemia, type III (APOE)
• Hypobetalipoproteinemia (APOB)
• Sitosterolemia 1 (ABCG8)
• Sitosterolemia 2 (ABCG5)
• Wolman disease (LIPA)