Table 2.
Characteristics of GD1 patients with severe PAH with or without preceding HPS (N=14)
| Gender | ||
| Males | 4 | |
| Females | 10 | |
| Age at diagnosis of GD | ||
| Median | 5 | |
| Range | 2–22 | |
| Ethnicity | ||
| Ashkenazi Jewish | 4 | |
| Other | 7 | |
| Genotype | ||
| N370S/L444P | 4 | |
| N370S/84GG | 2 | |
| N370S/R257Q | 2 | |
| N370S/N370S | 2 | |
| N370S/T3231 | 1 | |
| N370S/IVS2+1 | 1 | |
| N370S/55 b.p. del. | 1 | |
| Severity Score Index (SSI) | ||
| Median | 15 | |
| Range | 7–20 | |
| Splenectomy | ||
| Y | 14 | |
| N | 0 | |
| Age at splenectomy | ||
| Median | 12 | |
| Range | 2–30 | |
| Hepatopulmonary syndrome (HPS)/Pulmonary arterial hypertension (PAH) | ||
| HPS alone | 0 | |
| HPS/PAH | 3 | |
| PAH alone | 11 | |
| Age at ERT | ||
| Median | 36.5 | |
| Range | 16–53 | |
| Age at adjuvant therapy | ||
| Median | 36 | |
| Range | 24–57 | |
| Age at diagnosis of PHT | ||
| Median | 36 | |
| Range | 22–63 | |
| Current age | ||
| Median | 52 | |
| Range | 26–72 | |
| BMPR2 mutations | ||
| Homozygous | 0/7 | |
| Heterozygous | 3/7 | |
| ALK1 mutations | ||
| Homozygous | 0/7 | |
| Heterozygous | 0/7 | |