Porphyrias

Question 1

• acute intermittent porphyria (AIP)
• variegate porphyria (VP)
• hereditary coproporphyria (HCP)
• ALAD

Answer 1

neurologic porphyrias, all hepatic

Question 2

• porphyria cutanea tarda (PCT), hepatic
• Erythropoietic protoporphyria (EPP)
• congenital erythropoietic porphyria (CEP)

Answer 2

chronic cutaneous prophyrias

Question 3

triggers that induce ALA synthase?

Answer 3

alcohol, smoking, medications, hormone replacement, sun exposure, stress, dieting and fasting

Question 4

• oversensitivity to sunlight
• blisters on sun exposed skin
• skin fragility
• scarring
• hyper/hypo pigmentation
• hypertrichosis, alopecia
• urticaria

Answer 4

symptoms of chronic cutaneous porphyrias (PCT, CEP, EPP)

Question 5

photosensitivity due to _______ deposition in skin

Answer 5

tetrapyrrole

Question 6

• most common porphyria
• blistering, sun exposed lesions
• men, 25% inherited, adulthood
• precip’d by hep C, hemochromatosis, alcohol, smoking, etc
• can’t convert uroporphyrinogen to coproporphyrinogen
• enzyme deficiency: uroprophyrinogen decarboxylase
• liver function tests abnormal

Answer 6

porphyria cutanea tarda

Question 7

• most common childhood
• sun –> pain, red, edema, itching within minutes
• AR deficiency of ferrochelatase
• hemolytic anemia, gallstones, liver disease

Answer 7

erythropoietic protoporphyria

Question 8

• mutilating photodermatitis and scarring
• hemolytic anemia of newborn
• uroporphyrinogen II cosynthase deficiency

Answer 8

congenital erythropoietic porphyria

Question 9

• abdominal pain - psych symptoms - peripheral neuropathy, no photosensitivity
• excess PBG and ALA –> inhibits GABA or glutamate
• excess PBG and ALA excreted in urine

Answer 9

acute intermittent porphyria

Question 10

• acute neurologic

- protoporphyrinogen oxidase deficiency , urine PBG and ALA elevated, fecal protoporphyrin and coproporphyrin elevated

Answer 10

variegate porphyria

Question 11

• onset after puberty
• acute neuropathic
• deficiency of coproporphyrinogen oxidase, increased in urine and feces
• no elevation of protoporphyrin

Answer 11

hereditary coproporphyria

Question 12

• begins in childhood, extremely rare neurologic porphyria

- normal urine PBG, significantly elevated urine ALA (rule out lead poisonng)

Answer 12

ALAD

Question 13

hemin for injection for acute porphyria, inhibits synthesis of ALA synthase

Answer 13

panhematin

Question 14

initial tests?

Answer 14

urine porphyrin analysis + PBG, EPP