Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients

Table 2

Baseline characteristics.

Variables, n (%)	Total population (n = 52)	Case 1	Case 2
Responsible gene	NA	LDLR	APOB
CAD type	NA	EAP	UAP
Age, years (IQR)	49 (46–53)	59	39
Male	42 (80.8)	Male	Male
BMI, (kg/m^2) (IQR)	25.1 (23.5–27.7)	24.5	21.9
Family history of early-onset CAD	10 (19.2)	No	No
Medical history
Smoking	33 (63.5)	Yes	Yes
Hypertension	25 (48.1)	No	Yes
Diabetes mellitus	14 (26.9)	No	No
Stroke	3 (5.8)	No	No
Peripheral artery disease	2 (3.8)	No	No
Three-vessel disease	15 (28.8)	Yes	No
Left main trunk lesion	3 (5.8)	No	No
CAD relapse	6 (11.5)	No	No
Laboratory findings at baseline
LDL-C, (mg/dL) (IQR)	124 (112–163)	119	108
HDL-C, (mg/dL) (IQR)	43 (37–48)	62	37
Triglycerides, (mg/dL) (IQR)	152 (98–225)	98	151
HbA1c, % (IQR)	5.9 (5.4–6.4)	6.0	5.9
Creatinine, (mg/dL) (IQR)	0.80 (0.67–1.01)	1.0	0.85
eGFR, mL/min/1.73 m^2 (IQR)	77 (60–88)	62	81
Laboratory findings after medications
LDL-C, (mg/dL) (IQR)	81 (65–96)	121	75
HDL-C, (mg/dL) (IQR)	46 (40–54)	77	47
Triglycerides, (mg/dL) (IQR)	146 (111–178)	49	101
Changes in LDL-C levels, (mg/dL) (IQR)	−50 (−73 to −23)	2	−33
Baseline prescriptions
Statins	12 (23.1)	Rosuvastatin, 5 mg	No
Ezetimibe	1 (1.9)	No	No
Present prescriptions
Statins	51 (98.1)	Rosuvastatin, 10 mg	Rosuvastatin, 5 mg
Ezetimibe	18 (34.6)	No	Yes
EPA	2 (3.8)	No	No
PCSK-9 inhibitor	1 (1.9)	No	No

PM, pathogenic mutation; VUS, variant of uncertain significance; EAP, effort angina pectoris; UAP, unstable angina pectoris; BMI, body mass index; CAD, coronary artery disease; eGFR, estimated glomerular filtration rate; LDL-C, low-density lipoprotein cholesterol; HDL-C, high-density lipoprotein cholesterol; HbA1c, hemoglobin A1c; EPA, eicosapentaenoic acid; PCSK-9, proprotein convertase subtilisin/kexin type 9; IQR, interquartile range.