Table 2.
Comparison of clinical features and lipid and lipoprotein values in patients with Familial Hypercholesterolemia versus “unexplained ADH.”
| FH (LDLR) Patients | Unexplained ADH Patients | Group x Gender Interaction p-value | |||
|---|---|---|---|---|---|
|
| |||||
| Male | Female | Male | Female | ||
| N* | 11 | 19 | 27 | 33 | |
| Age (years) | 53 (14) | 55 (13) a | 54 (11) e | 61 (6) | 0.27 |
| Body Mass Index (kg/m2) | 30.6 (5.4) | 31.1 (7.3) | 31.0 (4.3) | 31.9 (7.4) | 0.88 |
| Ethnicity (%) | |||||
| African-American | 18.2 | 31.6 | 44.4 | 45.5 | |
| Caucasian, non-Hispanic | 63.6 | 26.3 | 18.5 | 30.3 | |
| Hispanic | 18.2 | 36.8 | 18.5 | 15.2 | |
| other | 0 | 5.3 | 18.5 | 9.1 | |
| Total Cholesterol (mg/dL) | 374 (79) b | 375 (40) b | 326 (49) | 329 (35) | 0.89 |
| LDL-C (mg/dL) | 285 (55) a | 295 (42) c | 244 (47) | 237 (38) | 0.45 |
| TG (mg/dL) | 231 (97) ad | 152 (57) | 167 (71) | 193 (86) | 0.005 |
| HDL-C (mg/dL) | 36.7 (7.0) be | 49.0 (11.7) a | 50.6 (10.9) | 56.5 (14.1) | 0.28 |
| PCSK9 (ng/mL) | 633 (269) | 780 (225) | 554 (326) d | 672 (306) | 0.92 |
| Achilles Tendon Width (mm) | 17.8 (3.6) | 16.2 (4.1) | 15.8 (2.1) | 15.4 (3.1) | 0.44 |
| Arcussenilis (%) | 72.7 | 84.2 | 76.9 | 72.7 | 0.40 |
| Tendon xanthomas (%) | 81.8 a | 52.6 | 36.0 | 28.1 | 0.33 |
| Lipid treatment (%) g | 100 | 100 | 92.6 | 87.9 | 1.0 |
| Premature CHD (%)h | 36.4 | 36.8 a | 44.4 f | 18.2 | 0.17 |
| Age of onset of CHD (years) | 44 (1) n=4 | 48 (10) n=7 | 45 (7) n=12 | 56 (5) n=6 | |
| Premature CHD in relatives (%) | 100 e | 43.8 | 59.1 | 44.8 | 0.05 |
Continuous variables are summarized as mean (SD). FH denotes familial hypercholesterolemia. ADH denotes autosomal dominant hypercholesterolemia. LDL-C denotes low density lipoprotein-cholesterol; TG denotes triglycerides; HDL-C denotes high density lipoprotein-cholesterol; PCSK9 denotes proprotein convertase subtilisin/kexin 9; CHD denotes coronary heart disease
P-values are from two-way ANOVA for continuous variables, Breslow-Day test for categorical variables, and Cox proportional hazard models for comparing premature CHD onset.
Untreated lipid and lipoprotein values were available in 9 FH (LDLR) males, 17 FH (LDLR) females, 25 “unexplained ADH” males, and 33 “unexplained ADH” females.
One patient with APOB heterozygous mutation not included
p<0.05,
p<0.01,
p<0.001, FH(LDLR) versus unexplained ADH for the same gender.
p<0.05,
p<0.01,
p<0.001, Male versus Female for the same group
Includes statins, ezetimibe, bile acid sequestrants, niacin, fish oil, and/or sitostanol
Premature CHD is defined as the diagnosis of CHD at ages less than 55 years in males or 65 years in females.