Here I present: “Combined Hyperlipidemia“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CHL) icd10=E78.2
INTRODUCTION.
Combined hyperlipidemia is a commonly occurring form of hypercholesterolemia characterized by increased LDL and triglyceride concentrations, often accompanied by decreased HDL. On lipoprotein electrophoresis it shows as a hyperlipoproteinemia type-IIB. It is the most commonly inherited lipid disorder, occurring in around one (1) in 200 persons. In fact, one (1) in five (5) individuals who develop coronary heart disease before the age of 60 have this disorder.
Combined hyperlipidemia (CHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B. Patients with CHL are at increased risk of cardiovascular disease mortality and have a high frequency of comorbidity with other metabolic conditions such as type-2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome.
There is evidence susceptibility to combined hyperlipidemia type-3 (CHL3) can be conferred by mutation in the lipoprotein lipase (enzyme #3.1.1.34) gene (LPL) on cytogenetic location 8p21.3 and genomic coordinates 8:19,939,253-19,967,259. The screenshot of the LPL gene 28,007 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides LPL in the 8p21.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:19,200,001 | SCZD6 | Schizophrenia susceptibility, chromosome 8 |
| 8:19,313,693 | SH2D4A | SH2 domain-containing protein 4A |
| 8:19,404,161 | CSGALNACT1 | Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| 8:19,817,416 | INTS10 | Integrator complex subunit 10 |
| 8:19,939,253 | LPL | Lipoprotein lipase |
| 8:20,144,855 | SLC18A1 | Solute carrier family 18 (vesicular monoamine), member 1 |
| 8:20,197,381 | ATP6V1B2 | ATPase, H+ transporting, V1 subunit B2 |
| 8:20,246,165 | LZTS1 | Leucine zipper, putative tumor suppressor 1 |
| 8:21,690,398 | GFRA2 | GDNF family receptor alpha-2 |
| 8:21,908,873 | DOK2 | Docking protein 2 |
