Baseline characteristics and follow-up of children by genotype
| . | VHLR200W homozygotes (N = 30) . | VHL wild type (N = 16) . | P . |
|---|---|---|---|
| Baseline | |||
| Demographics | |||
| Age in years, median (IQR) | 16 (12-18) | 11 (8-13) | .006* |
| Female, no. (%) | 16 (53.3%) | 7 (43.8%) | .8* |
| Treatment | |||
| Phlebotomy, no. (%) | 8 (26.7%) | 1 (6.3%) | .1* |
| Aspirin, no. (%) | 13 (43.3%) | 0 (0%) | <.001* |
| Cinnarizine, no. (%) | 13 (43.3%) | 0 (0%) | <.001* |
| Medical history | |||
| Headache, no. (%) | 22 (73.3%) | 5 (31.3%) | .011* |
| Leg pain, no. (%) | 15 (50.0%) | 1 (6.3%) | .003* |
| Vertigo or dizziness, no. (%) | 11 (36.7%) | 4 (25.0%) | .5* |
| Chest pain, no. (%) | 8 (26.7%) | 3 (18.8%) | .7* |
| Bleeding, no. (%) | 2 (6.7%) | 0 (0%) | .5* |
| Physical exam | |||
| BMI, median (IQR) | 17.0 (15.2-19.8) | 15.8 (14.8-18.3) | .3† |
| Systolic blood pressure, median (IQR) | 99 (95-103) | 105 (91-110) | .005† |
| Plethora, no. (%) | 26 (86.7%) | 1 (6.7%) | <.001* |
| Systolic murmur, no. (%) | 9 (30.0%) | 2 (12.5%) | .3* |
| Splenomegaly | 1 (3.3%) | 0 (0%) | >.9* |
| Laboratory data | |||
| Hemoglobin (g/dL), median (IQR) | 19.1 (16.7-20.2)‡ | 14.0 (12.8-14.4) | <.001* |
| Ferritin (ng/mL), median (IQR) | 13.3 (11.3-26.7)§ | 21.0 (15.2-45.8)|| | .14* |
| Erythropoietin (U/L), median (IQR) | 15.5 (11.0-31.3)§ | 4.8 (3.9-7.2)|| | .003† |
| Follow-up | |||
| Age in years, median (IQR) | 22 (20-24)‡ | 20 (17-22) | .044* |
| Complications | 9 (31.0%)‡ | 0 (0%) | .017* |
| Death | 2 (6.9%) | 0 (0%) | |
| Organ cysts | 2 (6.9%) | 0 (0%) | |
| Cardiac complications | 2 (6.9%) | 0 (0%) | |
| Peptic ulcer | 1 (3.4%) | 0 (0%) | |
| Headache and tremor of hands | 1 (3.4%) | 0 (0%) | |
| Chronic myelogenous leukemia | 1 (3.4%) | 0 (0%) |
| . | VHLR200W homozygotes (N = 30) . | VHL wild type (N = 16) . | P . |
|---|---|---|---|
| Baseline | |||
| Demographics | |||
| Age in years, median (IQR) | 16 (12-18) | 11 (8-13) | .006* |
| Female, no. (%) | 16 (53.3%) | 7 (43.8%) | .8* |
| Treatment | |||
| Phlebotomy, no. (%) | 8 (26.7%) | 1 (6.3%) | .1* |
| Aspirin, no. (%) | 13 (43.3%) | 0 (0%) | <.001* |
| Cinnarizine, no. (%) | 13 (43.3%) | 0 (0%) | <.001* |
| Medical history | |||
| Headache, no. (%) | 22 (73.3%) | 5 (31.3%) | .011* |
| Leg pain, no. (%) | 15 (50.0%) | 1 (6.3%) | .003* |
| Vertigo or dizziness, no. (%) | 11 (36.7%) | 4 (25.0%) | .5* |
| Chest pain, no. (%) | 8 (26.7%) | 3 (18.8%) | .7* |
| Bleeding, no. (%) | 2 (6.7%) | 0 (0%) | .5* |
| Physical exam | |||
| BMI, median (IQR) | 17.0 (15.2-19.8) | 15.8 (14.8-18.3) | .3† |
| Systolic blood pressure, median (IQR) | 99 (95-103) | 105 (91-110) | .005† |
| Plethora, no. (%) | 26 (86.7%) | 1 (6.7%) | <.001* |
| Systolic murmur, no. (%) | 9 (30.0%) | 2 (12.5%) | .3* |
| Splenomegaly | 1 (3.3%) | 0 (0%) | >.9* |
| Laboratory data | |||
| Hemoglobin (g/dL), median (IQR) | 19.1 (16.7-20.2)‡ | 14.0 (12.8-14.4) | <.001* |
| Ferritin (ng/mL), median (IQR) | 13.3 (11.3-26.7)§ | 21.0 (15.2-45.8)|| | .14* |
| Erythropoietin (U/L), median (IQR) | 15.5 (11.0-31.3)§ | 4.8 (3.9-7.2)|| | .003† |
| Follow-up | |||
| Age in years, median (IQR) | 22 (20-24)‡ | 20 (17-22) | .044* |
| Complications | 9 (31.0%)‡ | 0 (0%) | .017* |
| Death | 2 (6.9%) | 0 (0%) | |
| Organ cysts | 2 (6.9%) | 0 (0%) | |
| Cardiac complications | 2 (6.9%) | 0 (0%) | |
| Peptic ulcer | 1 (3.4%) | 0 (0%) | |
| Headache and tremor of hands | 1 (3.4%) | 0 (0%) | |
| Chronic myelogenous leukemia | 1 (3.4%) | 0 (0%) |