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. 2025 Jul 2;20:333. doi: 10.1186/s13023-025-03860-8

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