Porphyrias, Coagulation Disorders, Platelet Disorders

Question 1

Porphyria: Lead Poisoning

Answer 1

• Affected Enzyme: Ferrochelatase and ALA dehydratase
• Accumulation of protophyrin and delta-ALA in blood
• Remember “Lead Poisoning” in Microcytic Anemia

Question 2

Porphyria: Acute Intermittent Porphyria

Answer 2

• Affected Enzyme: Porphobilinogen Deaminase
• Accumulation of Porphobilinogen, and delta ALA, coporphobilinogen (urine)

Symptoms: 5 P's =  
•	Pain Abdomen
•	Port Wine-colored Urine
•	Polyneuropathy
•	Psychological Disturbances
•	Precipitated by drugs (cytochrome P-450 inducers), alcohol, and starvation

Question 3

Porphyria: Porphyria Cutanea Tarda

Answer 3

• Affected Enzyme: Uroporphyrinogen Decarboxylase
• Accumulation of Uroporphyrin and LFTs
• Sx: Tea colored urine, blistering cutaneous photosensitivity.