Porphyrias

Question 1

Lead Poisoning (2 enzymes, anemia/smear, signs, treatment)

Answer 1

Ferrochelatase and ALA dehydratase
Get microcytic anemia with basophilic stippling
Mental deterioration in kids/memory loss and headache in adults, as well as demyelination causing foot/wrist drop. Also Burton’s lines on gingivae and lead lines on epiphysis
Treat with succimer and EDTA. Can do succimer and dimercaprol in kids if serious

Question 2

Acute Intermittent Porphyria (enzyme, symptoms, treatment)

Answer 2

Porphobilinogen deaminase
5 P’s: Painful abdomen (neuropathic), Port wine-colored urine, Polyneuropathy, Psychological Disturbances, Precipitated by drugs (P450 inducers), alcohol, starvation
Treat with glucose and heme which inhibit ALA synthase (RL step)

Question 3

Porphyria cutanea tarda (enzyme, epidemiology, presentation)

Answer 3

Uroporphyrinogen decarboxylase
Most common porphyria
Get tea-colored urine (uroporphyrin in urine), but blistering cutaneous photosensitivity, also with hypertrichosis, facial hyperpigmentation, ass’d with HCV/alcohol. Basically stereotypical homeless person image