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. 2018 Aug 1;25(8):751–770. doi: 10.5551/jat.CR003

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