TABLE 1.

Clinical and demographic features of subjects with ABCA1 copy-number variations

	Patient 1	Patient 2	Patient 3	Patient 4
Age	37	34	59	40
Gender	Female	Female	Male	Female
Weight (kg)	56.5	72	—	71.4
Height (cm)	155	156.9	—	172
Waist circumference (cm)	73.7	81.5	—	66
Ethnicity	Northern European, Italian	French-Canadian	French-Canadian	German
Total cholesterol (mmol/L)	8.16	3.30	5.46	4.71
Triglyceride (mmol/L)	2.52	1.01	4.48	5.13
HDL cholesterol (mmol/L)	0.81	0.56	0.47	0.03
LDL cholesterol (mmol/L)	6.20	2.42	3.28	3.54
apo A1 (g/L)	—	0.59	0.60	0.09
apo B (g/L)	—	0.81	1.33	—
Creatine kinase (U/L)	79	—	78	113
Fasting glucose (mmol/L)	4.0	5.4	5.3	4.7
Aspartate transaminase (U/L)	23	20	21	33
Alanine transaminase (U/L)	—	15	15	23
Alkaline phosphatase (U/L)	46	62	—	61
Lp(a) (nmol/L)	—	—	290	363
Co-morbidities	• heterozygous FH (LDLR NM_000527 p.V523M)	• obesity	• hypertension	• TIA at age 37
	• minor carotid intimal thickening		• TIA	• cerebral arteriosclerotic microangiopathy
			• smoking	• hypertension
			• aortic valvular	• juvenile myoclonic epilepsy
			• stenosis	• diffuse nonHodgkin’s lymphoma stage III

Values provided are from first presentation to specialist lipid clinic, or date first obtained. Lp(a) conversions from g/l to nmol/l were done following the conversion factor described by Brown et al. (41). FH, familial hypercholesterolemia; Lp(a), lipoprotein(a); TIA, transient ischemic attack.