Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey

Table 1 Baseline clinical characteristics of HoFH patients

	Lomitapide cohort (N = 30)	LA cohort (N = 29)	p
Geographic origin
European Non-Finnish-Southern European, n (%)	29 (96.7)	10 (34.5)	< 0.001
Others, n (%)^a	1 (3.3)	19 (65.5)	< 0.001
Demographic
Age, years	40.0 (27.5–56.5)	18.0 (10.5–30.5)	< 0.001
Male, n (%)	15 (50.0)	14.0 (48.3)	NS
Genotype
Uncertain^b	12 (40.0)	13 (44.8)	0.004
ARH	6 (20.0)	2 (6.9)
Defective/defective	9 (30.0)	1 (3.4)
Null/defective	1 (3.3)	1 (3.4)
Null/null	2 (6.7)	12 (41.4)
Xanthomata, n (%)	26 (86.7)	27 (93.1)	NS
Risk factors, n (%)
Smoking	4 (13.3)	2 (6.9)	NS
T2DM	1 (3.3)	0	NS
HTN	11 (36.7)	0	< 0.001
Plasma lipids (mg/dl)
Untreated LDL-C^c	481.4 ± 153.1	794.3 ± 344.2	0.01
Lowest LDL-C on conventional LLT before LA/Lomitapide	246.5 (170.3–295.8)	502.0 (309.5–606.0)	< 0.001
Pre-treatment LDL-C burden (mg/dL-year)	11,463.9 (6751.5–14,468.9)	7313.5 (4302.1–11,451.3)	0.034
Baseline TC	357.6 ± 136.5	510.1 ± 183.6	0.001
Baseline HDL-C	44.7 ± 12.9	30.3 ± 9.5	< 0.001
Baseline LDL-C	272.5 ± 108.8	453.0 ± 179.5	< 0.001
Baseline TG	96.5 (66.8–132.0)	82.5 (59.8–144.0)	NS
LLT, n (%)
None	1 (3.3)	0	NS
LA	8 (26.7)	0^d	0.003
PCKS9i	6 (20.0)	0	0.011
Statin	29 (96.7)	28 (96.6)	NS
Ezetimibe	27 (90.0)	11 (37.9)	< 0.001
Fibrate	1 (3.3)	2 (6.9)	NS
Porto-caval shunt	0	2 (6.9)	NS
Resins	0	9 (31.0)	0.001
Major atherosclerotic cardiovascular events (MACE)
Age at first MACE	35.0 (30.0–52.5)	19.0 (14.0–35.0)	0.003
Total MACE, n (%)	17 (56.7)	13 (44.8)	NS
CHD	15 (50.0)	9 (31.0)
Stroke	0	1 (3.4)
PAD	1 (3.3)	3 (10.3)
Carotid revascularization	5 (16.7)	2 (6.9)
Aortic valve replacement	4 (14.3)	5 (19.2)

Data are represented median (interquartile range) and number (percentage) as appropriate. Pre-treatment LDL-C burden was calculated as: \(\left({LDL-C}_{baseline}*{ Age }_{first LA or Lomitapide prescrption}\right)\)
ARH, Autosomal Recessive Homozygous; T2DM, type 2 diabetes; HTN, hypertension; LLT, Lipid Lowering Therapy; LDL-C, low density lipoprotein cholesterol; TC, total cholesterol; HDL-C, high density lipoprotein cholesterol; TG, triglycerides; BMI, body mass index; HTN, hypertension; T2DM, type 2 diabetes; LA, Liporprotein apheresis; PCKS9i, Proprotein convertase subtilisin/kexin type 9 inhibitors; MACE, Major Atherosclerotic Cardiovascular Events; CHD, coronary heart disease; PAD, peripheral artery disease; NS, not significant
^a1 patient from Africa, 9 from North-Africa, 1 from central-eastern Europe, 1 from Antille, 3 from South Asia and 3 from Turkey (for one patient the information on ethnicity was not available)
^bThe genotype was defined as uncertain if molecular diagnosis was not available or the molecular testing indicated the presence of variants of uncertain significance (VUS)
^cUntreated LDL-C values were available for 21 and 12 subjects in the Lomitapide and LA cohort, respectively
^dLA was started at this visit

ISSN: 1750-1172