Learn / FMK
Every FMK condition
299 diseases, deficiencies, toxicities and drug mechanisms harvested from every FMK deck — the ones sprinkled through a single bullet as much as the ones with their own slide. Pick what you're given and what you have to name, or let it cycle; distractors come from the same category so you have to discriminate (hypoketotic vs. ketotic hypoglycemia, which GSD, which urea-cycle enzyme…). Every answer shows the whole card with the lecture and slide.
Heme · FMK 08.4
Erythropoietic protoporphyria (EPP) Autosomal dominant
Defect / target: Ferrochelatase - step 8 (inner mitochondrial membrane)
Mechanism: Inability to insert Fe2+ into protoporphyrin IX causes photoactive protoporphyrin to accumulate in erythroid cells, plasma and skin; protoporphyrin excreted via bile can injure the liver.
↑ Accumulates: Protoporphyrin IX in erythrocytes, skin and bile· ↓ Deficient: Heme
Presentation: Painful burning photosensitivity usually WITHOUT frank blistering, beginning in childhood; hepatobiliary disease/liver injury from biliary protoporphyrin in severe cases; erythropoietic (marrow) origin
Labs: Elevated free erythrocyte protoporphyrin; normal urinary porphyrins (protoporphyrin is not water-soluble)
Treatment: Sun avoidance/protection; monitor liver
EPP = marrow, childhood, painful non-blistering photosensitivity; contrast PCT = liver, adult, blisters
Learn the mechanism: Heme synthesis (porphyrias) →
FMK 08.4 Heme Metabolism · slide 11, 14, 17, 30; handout