Skip to main content

Table 1 Baseline clinical characteristics of HoFH patients

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

 

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)

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

 Uncertainb

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-Cc

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)

0d

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)

  1. Data are represented median (interquartile range) and number (percentage) as appropriate. Pre-treatment LDL-C burden was calculated as: \(\left({LDL-C}_{baseline}*{ Age }_{first LA or Lomitapide prescrption}\right)\)
  2. 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
  3. 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)
  4. 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)
  5. cUntreated LDL-C values were available for 21 and 12 subjects in the Lomitapide and LA cohort, respectively
  6. dLA was started at this visit