Poryphyrias

Question 0

Variegate porphyria

Answer 0

Dutch ancestry
Blistering skin lesions
Psych issues 
Chronic abdominal pain
Deficiency of protoporphyrinogen oxidase
Collect FECAL protophoryins to confirm

Question 1

Acute intermittent porphyria

Answer 1

Abdominal pain, vomiting, hyponatremia, emotionally labile, respiratory failure.
Poet wine colored urine
Mutation of PBG-deaminase gene–>deficiency of hydroxymethylbilane
Dx by 24 hour urine ALA AND PGB
Rbc PBG-deaminase <50% confirmatory
Triggers;: etoh, ocp, sulfonamides, anti convulsants.
NO SKIN INVOLVEMENT
INCREEASED HEPATOMA RISK SO CHECK YEARLY AFP

Question 2

ALA dehydratase deficiency

Answer 2

Elevated ALA in urine but not PBG

Lead poisoning triggers abdominal pain, reversed with zinc

Question 3

24 h stool for coproporphyrin and protoporphrin

Answer 3

Fecal protoporphryin decreased then variegated porphyria

Fecal coproporphyrin increased then hereditary coproporphyria

Question 4

Porphyria cutanea tarda

Answer 4

Blistering skin lesions on hands and sun exposed areas
NO abdominal pain
NO neurovisceral symptoms (like variegate)
Assoc with UROD deficiency, <50

Question 5

Congenital erythropoeitic porphyria (gunthers disease)

Answer 5

Short stature
Fracture of thoracic vertebrae
Severe mutilating photo dermatitis with necrosis of hands and feet
Brown teeth
Splenomegaly
Deficiency of uroporphyrin 3 synthetase
Tx: allogeneic SCT

Question 6

Erythropoeitic protoporphyria

Answer 6

Marked photosensitivity
Defect in ferrochletase
Tx: avoid sun
Allogeneic SCT may be curative

Question 7

Acute porphyria treatment

Answer 7

Carbohydrates or hemin

Question 8

Cutaneous porphyria treatment

Answer 8

Phlebotomy with ferritin goal <50

Chloroquine