Table 2. Differential diagnosis point of FH and familial combined hyperlipidemia (FCHL).
| FH Heterozygotes | FCHL | |
|---|---|---|
| Gene | Monogenic causes LDL receptor (LDLR) Apolipoprotein B-100 (APOB) Proprotein convertase subtilisin-like kexin type 9 (PCSK9) LDLR adaptor protein 1 (LDLRAP1) |
Complex genetic causes Upstream transcription factor 1 (USF-1), Lipoprotein lipase (LPL), etc. |
| Prevalence | 1 in 200 -500 | 1 in almost 100 |
| lipid profile | Mostly type IIa, often type IIb | In family and individual, variable phenotype of type IIa and/or type IIb and/or type IV |
| Tendon and skin xanthomas | Often observed | Not observed |
| Premature corneal limbus | Often observed | Not usually observed |
| Small dense LDL | Rare | Characteristic feature of FCHL |
| Insulin resistance | Rare | Often observed |