Cohort of 562 patients with porphyria from the United States (American Porphyria Consortium) and Europe (French Porphyria Center)
| . | Cohort composition . | AIP . | HCP . | VP . | EPP . | XLP . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| . | Total (USA/France) . | USA . | FPC . | USA . | FPC . | USA . | FPC . | USA . | FPC . | USA . | FPC . |
| All | 1124 | ||||||||||
| (n alleles) | (390/734) | 250 | 194 | 0 | 98 | 4 | 246 | 130 | 196 | 6 | 0 |
| Severe | 432 | ||||||||||
| (n alleles) | (90/342) | 22 | 112 | 0 | 30 | 2 | 90 | 60 | 110 | 6 | 0 |
| Mild/ Asymptom. | 472 | ||||||||||
| (n alleles) | (80/392) | 18 | 82 | 0 | 68 | 2 | 156 | 60 | 86 | 0 | 0 |
| Unknown severity* | 220 | ||||||||||
| (n alleles) | (220/0) | 210 | 0 | 0 | 0 | 0 | 0 | 10 | 0 | 0 | 0 |
| . | Cohort composition . | AIP . | HCP . | VP . | EPP . | XLP . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| . | Total (USA/France) . | USA . | FPC . | USA . | FPC . | USA . | FPC . | USA . | FPC . | USA . | FPC . |
| All | 1124 | ||||||||||
| (n alleles) | (390/734) | 250 | 194 | 0 | 98 | 4 | 246 | 130 | 196 | 6 | 0 |
| Severe | 432 | ||||||||||
| (n alleles) | (90/342) | 22 | 112 | 0 | 30 | 2 | 90 | 60 | 110 | 6 | 0 |
| Mild/ Asymptom. | 472 | ||||||||||
| (n alleles) | (80/392) | 18 | 82 | 0 | 68 | 2 | 156 | 60 | 86 | 0 | 0 |
| Unknown severity* | 220 | ||||||||||
| (n alleles) | (220/0) | 210 | 0 | 0 | 0 | 0 | 0 | 10 | 0 | 0 | 0 |
AIP, acute intermittent porphyria; FPC, French Porphyria Center; HCP, hereditary coproporphyria; EPP, classical erythropoietic protoporphyria; USA, United States; VP, variegate porphyria; XLP, X-linked protoporphyria + EPP variant form (CLPX, others).
Known allele carriers from family study with no documentation of clinical history.