Table 2.
Overview of clinical features of reported EPP patients
| Characteristics | Variable | N | % |
|---|---|---|---|
| Total No. of patients | 98 | 100.0 | |
| Sex | Female | 37 | 37.8 |
| Male | 61 | 62.2 | |
| Age at diagnosis, years | Median(min, max) | 20.5(2,78) | |
| Photosensitivity disorders | 91 | 92.9 | |
| Abdominal pain | Yes | 23 | 23.5 |
| No | 75 | 76.5 | |
| Jaundice | Yes | 23 | 23.5 |
| No | 75 | 76.5 | |
| Anemia | Yes | 33 | 33.7 |
| No | 65 | 66.3 | |
| Hypochromic anemia | Yes | 9 | 9.2 |
| Liver dysfunctions | Elevated | 51 | 52.0 |
| Normal | 47 | 48.0 | |
| Hematoporphyrin | Elevated | 72 | 73.5 |
| Normal | 26 | 26.5 | |
| Liver cirrhosis | Yes | 12 | 12.2 |
| No | 86 | 87.8 | |
| Liver failure | Yes | 11 | 11.2 |
| No | 87 | 88.8 | |
| Liver biopsy | Yes | 25 | 25.5 |
| No | 73 | 74.5 | |
| Typical presentation of liver biopsya | Yes | 19 | 76 |
| Genetic Testing | Yes | 69 | 70.4 |
| No | 29 | 30.6 | |
| Prognosis | Dead | 4 | 4.1 |
aTypical presentation of liver biopsy includes birefringent crystals and “Maltese cross” configuration of crystals