Other porphyria

obsolete_porphyria: ['A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.']

Endpoint definition

Long name Other porphyria
Hospital Discharge registry ICD-8: 2731
Hospital Discharge registry: exclude ICD-9 2771B
Hospital Discharge registry: exclude ICD-8 27310
Cause of Death registry ICD-8: 2731
Level in the ICD-hierarchy 4
First defined in version DF2
Latin name Alia porphyria

Summary Statistics

Key figures

All Female Male
Number of individuals 29 12 17
Unadjusted prevalence (%) 0.01 0.01 0.02
Mean age at first event (years) 46.26 43.51 48.21
Case fatality at 5-years (%) 6.90 0.00 11.76

Longitudinal metrics

All Female Male
Median nb. of events per indiv. 2.0 1.5 2.0
Recurrence at 6 months (%) 37.93 33.33 41.18

Survival analyses between endpoints


before Other porphyria
after Other porphyria

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