Table 1.
Characteristics of Patients With Definite or Probable HoFH
| Definite or Probable HoFH (N = 201) |
No. of Patients Evaluated | |
|---|---|---|
| Male | 86 (43) | 201 |
| Age at assessments, y | 54 ± 15 | 201 |
| Body mass index, kg/m2 | 24.4 ± 4.5 | 193 |
| Systolic blood pressure, mm Hg | 125 ± 16 | 192 |
| Diastolic blood pressure, mm Hg | 70 ± 13 | 192 |
| Heart rate, beats/min | 72 ± 11 | 177 |
| Family history | 163 (93) | 175 |
| Age at diagnosis, y | 27 (4.5-47.5) | 140 |
| Cutaneous xanthoma | 112 (56) | 199 |
| Tendon xanthoma | 159 (80) | 200 |
| Achilles tendon thickness, mm | 17.53 ± 9.72 | 144 |
| Achilles tendon thickness ≥9 mm | 140 (97) | 144 |
| Valvular disease | 49 (24) | 201 |
| Aortic valvular disease | 34 (69) | |
| Other valvular disease | 21 (43) | |
| Intervention for valvular disease | 19 (27) | 70 |
| Coronary artery disease | 139 (70) | 198 |
| Prior PCI | 85 (57) | 149 |
| Prior CABG | 39 (28) | 139 |
| Aortic aneurysm | 12 (6.0) | 201 |
| Arteriosclerosis obliterans | 12 (6.0) | 199 |
| Carotid arteriosclerosis | 105 (55) | 192 |
| Arcus corneae | 60 (32) | 190 |
| Total cholesterol before medication, mmol/L | 12.36 ± 2.52 | 137 |
| Triglycerides before medication, mmol/L | 1.92 ± 1.35 | 133 |
| HDL cholesterol before medication, mmol/L | 1.40 ± 1.02 | 131 |
| LDL cholesterol before medication, mmol/L | 10.15 ± 2.32 | 139 |
| Genetic testing | 65 (33) | 198 |
| Diagnosis | 201 | |
| Definite | 58 (29) | |
| Probable | 143 (71) | |
| Lipoprotein apheresis | 42 (21) | 198 |
| Statin | 192 (96) | 200 |
| High-intensity statina | 148 (74) | 200 |
| Resin | 18 (9.7) | 185 |
| Probucol | 24 (12) | 193 |
| Ezetimibe | 139 (70) | 199 |
| PCSK9 inhibitors | 100 (50) | 201 |
Values are n (%), mean ± SD, or median (IQR) unless otherwise indicated.
CABG = coronary artery bypass grafting; HDL = high-density lipoprotein; HoFH = homozygous familial hypercholesterolemia; LDL = low-density lipoprotein; PCI = percutaneous coronary intervention; PCSK9 = proprotein convertase subtilisin kexin 9.
a
In this study, statin doses ≥20 mg atorvastatin, 4 mg pitavastatin, or 10 mg rosuvastatin were considered as high-intensity statin therapy.