Pathogenesis and clinical management of liver damage in porphyrias: Mechanisms and therapeutic approaches

Figure 1 Metabolic pathway of porphyrias and associated disorders: Key enzymes. Intermediates and disease subtypes. ALA: Δ-aminolevulinic acid; AIP: Acute intermittent porphyria; ADP: Δ-aminolevulinic acid dehydratase deficiency porphyria; EPP: Erythropoietic protoporphyria; VP: Variegate porphyria; PCT: Porphyria cutanea tarda; HEP: Hepatoerythropoietic porphyria; HCP: Hereditary coproporphyria. This figure was created using FigDraw (Supplementary material; www.figdraw.com).

Figure 2 Diagnostic algorithm for porphyria-related liver injury. WES: Whole exome sequencing; PPBGD: Porphobilinogen deaminase; UROD: Uroporphyrinogen decarboxylase.

Figure 3 Histopathological features of protoporphyria-associated liver injury. A: Hematoxylin and eosin staining shows brown-yellow protoporphyrin deposits within canaliculi and hepatocytes; B and C: Polarized light microscopy reveals Maltese cross-shaped birefringent crystals (blue arrows), indicative of protoporphyrin aggregation; D: Prussian blue staining highlights granular iron deposits (blue arrows).