Clinical findings of study participants according to VHL genotype
. | VHL 598C>T homozygote n = 40-43 . | VHL 598C > T heterozygote n = 8-9 . | Unaffected n = 70-77 . | P* . |
|---|---|---|---|---|
| Demographic information | ||||
| Mean age ± SE, y | 49 ± 1 | 45 ± 3 | 50 ± 2 | .7 |
| Female, no. (%) | 32 (74.4) | 6 (66.7) | 38 (49.4) | .008 |
| Medical history | ||||
| Treated by phlebotomy, no. (%) | 41 (95.3) | 0 (0) | 0 (0) | < .0005 |
| Headache, no. (%) | 37 (86.0) | 5 (62.5) | 36 (46.8) | < .0005 |
| Dizziness, no. (%) | 25 (58.1) | 1 (12.5) | 13 (16.9) | < .0005 |
| Dyspnea on exertion, no. (%) | 24 (55.8) | 1 (11.1) | 11 (14.3) | < .0005 |
| Thrombosis, no. (%) | 11 (25.6) | 0 (0) | 1 (1.3) | < .0005 |
| Bleeding, no. (%) | 14 (32.6) | 0 (0) | 7 (9.1) | .001 |
| Peptic ulcer disease, no. (%) | 13 (30.2) | 0 (0) | 9 (11.7) | .012 |
| Cancer, no. (%) | 0 (0) | 0 (0) | 1 (1.3) | .5 |
| Physical examination | ||||
| Mean weight ± SE,† kg | 60.9 ± 1.9 | 69.2 ± 4.0 | 65.7 ± 1.4 | .042 |
| Mean height ± SE,† m | 1.62 ± 1.05 | 1.60 ± 2.22 | 1.62 ± 0.77 | .9 |
| Mean body mass index ± SE,† kg/m2 | 23.2 ± 0.6 | 27.0 ± 1.4 | 24.9 ± 0.5 | .038 |
| Obesity, body mass index ≥ 30 kg/m2 (%) | 1 (2.4) | 1 (11.1) | 9 (12.0) | .095 |
| Mean systolic BP ± SE,‡ mmHg | 120 ± 3 | 119 ± 6 | 133 ± 2 | .001 |
| Mean diastolic BP ± SE,‡ mmHg | 79 ± 2 | 78 ± 5 | 87 ± 2 | .002 |
| Plethora, no. (%) | 33 (76.7) | 1 (11.1) | 9 (11.7) | < .0005 |
| Varicose veins, no. (%) | 32 (74.4) | 2 (22.2) | 30 (39.0) | < .0005 |
| Edema, no. (%) | 14 (32.6) | 1 (11.1) | 5 (6.6) | < .0005 |
| Clubbing, no. (%) | 6 (14.0) | 0 (0) | 1 (1.3) | .005 |
| Splenomegaly, no. (%) | 3 (7.0) | 0 (0) | 0 (0) | .020 |
| Laboratory data | ||||
| Mean hemoglobin ± SE,† g/dL | 18.3 ± 0.3 | 13.3 ± 0.4 | 12.9 ± 0.2 | < .0005 |
| Mean hematocrit ± SE,† % | 59.3 ± 0.9 | 41.3 ± 1.9 | 40.4 ± 0.7 | < .0005 |
| Mean white blood cells ± SE, no./μL | 5300 ± 200 | 7900 ± 500 | 6600 ± 200 | < .0005 |
| Mean platelets ± SE, no./μL | 167 000 ± 10 000 | 265 000 ± 22 000 | 238 000 ± 8 000 | < .0005 |
| Geometric mean ferritin,§ μg/L, (SE range) | 67 (37-122) | 20 (12-34) | 30 (22-41) | .3 |
. | VHL 598C>T homozygote n = 40-43 . | VHL 598C > T heterozygote n = 8-9 . | Unaffected n = 70-77 . | P* . |
|---|---|---|---|---|
| Demographic information | ||||
| Mean age ± SE, y | 49 ± 1 | 45 ± 3 | 50 ± 2 | .7 |
| Female, no. (%) | 32 (74.4) | 6 (66.7) | 38 (49.4) | .008 |
| Medical history | ||||
| Treated by phlebotomy, no. (%) | 41 (95.3) | 0 (0) | 0 (0) | < .0005 |
| Headache, no. (%) | 37 (86.0) | 5 (62.5) | 36 (46.8) | < .0005 |
| Dizziness, no. (%) | 25 (58.1) | 1 (12.5) | 13 (16.9) | < .0005 |
| Dyspnea on exertion, no. (%) | 24 (55.8) | 1 (11.1) | 11 (14.3) | < .0005 |
| Thrombosis, no. (%) | 11 (25.6) | 0 (0) | 1 (1.3) | < .0005 |
| Bleeding, no. (%) | 14 (32.6) | 0 (0) | 7 (9.1) | .001 |
| Peptic ulcer disease, no. (%) | 13 (30.2) | 0 (0) | 9 (11.7) | .012 |
| Cancer, no. (%) | 0 (0) | 0 (0) | 1 (1.3) | .5 |
| Physical examination | ||||
| Mean weight ± SE,† kg | 60.9 ± 1.9 | 69.2 ± 4.0 | 65.7 ± 1.4 | .042 |
| Mean height ± SE,† m | 1.62 ± 1.05 | 1.60 ± 2.22 | 1.62 ± 0.77 | .9 |
| Mean body mass index ± SE,† kg/m2 | 23.2 ± 0.6 | 27.0 ± 1.4 | 24.9 ± 0.5 | .038 |
| Obesity, body mass index ≥ 30 kg/m2 (%) | 1 (2.4) | 1 (11.1) | 9 (12.0) | .095 |
| Mean systolic BP ± SE,‡ mmHg | 120 ± 3 | 119 ± 6 | 133 ± 2 | .001 |
| Mean diastolic BP ± SE,‡ mmHg | 79 ± 2 | 78 ± 5 | 87 ± 2 | .002 |
| Plethora, no. (%) | 33 (76.7) | 1 (11.1) | 9 (11.7) | < .0005 |
| Varicose veins, no. (%) | 32 (74.4) | 2 (22.2) | 30 (39.0) | < .0005 |
| Edema, no. (%) | 14 (32.6) | 1 (11.1) | 5 (6.6) | < .0005 |
| Clubbing, no. (%) | 6 (14.0) | 0 (0) | 1 (1.3) | .005 |
| Splenomegaly, no. (%) | 3 (7.0) | 0 (0) | 0 (0) | .020 |
| Laboratory data | ||||
| Mean hemoglobin ± SE,† g/dL | 18.3 ± 0.3 | 13.3 ± 0.4 | 12.9 ± 0.2 | < .0005 |
| Mean hematocrit ± SE,† % | 59.3 ± 0.9 | 41.3 ± 1.9 | 40.4 ± 0.7 | < .0005 |
| Mean white blood cells ± SE, no./μL | 5300 ± 200 | 7900 ± 500 | 6600 ± 200 | < .0005 |
| Mean platelets ± SE, no./μL | 167 000 ± 10 000 | 265 000 ± 22 000 | 238 000 ± 8 000 | < .0005 |
| Geometric mean ferritin,§ μg/L, (SE range) | 67 (37-122) | 20 (12-34) | 30 (22-41) | .3 |
P for comparison between VHL 598C>T homozygotes and unaffected subjects by analysis of variance or by Pearson chi square. Only systolic blood pressure (P = .040), diastolic blood pressure (P = .044), and white blood cells (P = .033) differed significantly between heterozygotes and unaffected participants.
Analysis of variance model in which weight is adjusted for age and sex.
Analysis of variance models in which blood pressure is adjusted for pulse and body mass index.
Analysis of variance model in which ferritin is adjusted for age, sex, and amount of blood removed by phlebotomy.