TABLE 3.

Genetic diagnosis of familial hypercholesterolemia in Hong Kong.

Case numbers	Age	Male	Diagnosis criteria	Genotyping	Main Findings	References
30	42 (11–80	17 (56.7%)	(1) Fasting plasma total cholesterol levels >7.5 mmol/L in adults (>6.5 mmol/L in individuals younger than 16 years) and having normal fasting plasma triglyceride levels, and (2) presence of tendon xanthomata in proband or first degree relative, or other family members having raised LDL-C inherited in a dominant pattern.	DNA sequencing for the promoter and 18 coding exons of the LDLR gene	LDLR mutations were diagnosed in 21 patients (70.0%). For the 9 clinically diagnosed FH patients with no detectable LDLR gene mutations, there was also no APOB R3500Q mutation detected.	Mak et al., 1998
94	51.9	42 (44.7%)	Dutch Lipid Clinic Network criteria	Sanger sequencing for LDLR, APOB, or PCSK9 genes	Single mutation was detected in 54 probands (57.4%), including 51 in LDLR and 3 in APOB.	Tan et al., 2018
96	51.7	43 (44.8%)	Clinical diagnosis of FH or severe hypercholesterolemia	Family based cascade screening incorporating genetic testing	Forty-two distinct mutations were identified in 67% of the index FH cases. The majority of causative mutations were in LDLR.	Chan et al., 2019

APOB, apolipoprotein B; DNA, deoxyribonucleic acid; LDL-C, low-density lipoprotein cholesterol; LDLR, low-density lipoprotein receptor; PCSK9, proprotein convertase subtilisin/kexin type 9; MLPA.