Porphyria

Alternative names:

acute intermittent porphyria; congenital erythropoietic porphyria; erythropoietic protoporphyria; hereditary coproporphyria

Symptoms:

• red urine
• tooth, abnormal colors
• sensitivity to sunlight
• blister (bulla) formation on exposure to sunlight
• skin swelling (edema) on exposure to sunlight
• photodermatitis
• crampy abdominal pain (may be extremely severe)
• constipation
• vomiting
• pain in the limbs
• pain in the back
• personality change
• numbness or tingling
• muscle pain
• muscle weakness or paralysis

Signs and tests:

• tachycardia
• loss of deep tendon reflexes
• electrolyte changes (see chem-20) - hyponatremia
• decreased kidney function as may be shown by the following tests:
  • urinalysis
  • serum creatinine
  • creatinine clearance
  • BUN
  • serum potassium
  • arterial blood gases

Tests:

• PROTO blood test (measures porphyrins, blood)
• enzyme assay for:
  • uroporphyrinogen decarboxylase
  • protoporphyrinogen oxidase
  • porphobilinogen PBG deaminase
  • coproporphyrinogen oxidase
  • ALA dehydratase
  • uroporphyrinogen III cosynthase
  • ferrochelatase

• Watson-Schwartz test on urine
• Hoesch test (measures abnormally high amounts of PBG)