Porphyria is a group of blood disorders in which altered activities of enzymes involved the heme biosynthesis due to accumulation of porphyrin in the body. Porhyrias are classified to acute porphyrias and cutaneous porphyrias depending on the primary symptoms.
Lab tests:
Urine Porphobilinogen (PBG)- Acute attack symptomes
Total porphyrins in plasma or urine- blistering skin photosensitivity with or without acute symptomes
Erythrocyte total protopophyrin- in nonblistering photosensitivity
Fecal porphyrins
Urine ALA
HMBS activity (poephovilinogen deaminase) in RBCs
Genetics test:
ALAS2, ALAD, HMBS, UROS, UROD, CPOX, PPOX, FECH
Algorithm:
References:
1. Stölzel, U., Doss, M. O., & Schuppan, D. (2019). Clinical Guide and Update on Porphyrias. Gastroenterology. 2019; 1-17.
