IllnessHyperlipidemia, combined; differential diagnosis

NGS +

[Sanger]

Familial combined hyperlipidemia is a very common, hereditary polygenic disease with high cholesterol and triglyceride levels in the blood. Diabetes, alcoholism and hypothyroidism exacerbate the disease. Younger children are rarely symptomatic, but teenagers typically already have high cholesterol and/or triglycerides. Cholesterol and/or triglyceride levels remain high throughout life and are often associated with glucose intolerance. In adults, obesity is characteristic, lateron development of coronary heart disease, myocardial infarction or even stroke-like symptoms. Laboratory tests may show elevated LDL cholesterol, decreased HDL cholesterol, elevated triglycerides and elevated apolipoprotein B100; respective phenotypes vary considerably. As familial combined hyperlipidemia is a multifactorial disorder, the inheritance pattern does not follow any classic Mendelian pattern. Extensive genetic testing identfies often (multiple) factors contributing to familial combined hyperlipidemia.

Reference: https://doi.org/10.1093/eurheartj/ehz455

• Alias: Familial combined hyperlipidaemia
• Alias: Mixed hyperlipidemia
• Alias: Multiple lipoprotein-type hyperlipidemia
• Alias: Rare hyperlipidemia
• Allelic: Alzheimer disease 2 (APOE)
• Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch APOE)
• Allelic: Ezetimibe, nonresponse to (NPC1L1)
• Allelic: Hypobetalipoproteinemia (APOB)
• Allelic: Sea-blue histiocyte disease (APOE)
• Apolipoprotein C-III deficiency (APOC3)
• Combined hyperlipidemia, familial (LPL)
• Coronary artery disease, severe, susceptibility to (APOE)
• Familial combined hyperlipoproteinaemia, inherited mixed hyperlipidaemias [panelapp] (USF1)
• High density lipoprotein cholesterol level QTL 11 (LPL)
• Hypercholesterolemia, familial, 1 (LDLR)
• Hypercholesterolemia, familial, 2 (APOB)
• Hypercholesterolemia, familial, 3 (PCSK9)
• Hypercholesterolemia, familial, 4 (LDLRAP1)
• Hyperchylomicronemia, late-onset (APOA5)
• Hyperlipidemia, familial combined, susceptibility to (USF1)
• Hyperlipoproteinemia, type 1D (GPIHBP1)
• Hyperlipoproteinemia, type III (APOE)
• Hyperlipoproteinemia, type Ib (APOC2)
• Hypertriglyceridemia, susceptibility to (APOA5)
• LDL cholesterol level QTL2 (LDLR)
• Lipoprotein glomerulopathy (APOE)
• Lipoprotein lipase deficiency (LPL)
• Low density lipoprotein cholesterol level QTL 1 (PCSK9)
• Low density lipoprotein cholesterol level QTL 6 (SORT1)
• Low density lipoprotein cholesterol level QTL 7 (NPC1L1)