Path Key Points 5

Question 1

Acute Intermittent Porphyia

Answer 1

Autosomal dominant, F>M
PBG deaminase
Abdominal pain, vomiting, dark urine, psych symptoms, proximal muscle weakness in arms
Triggered by CYP450 inducers, stress and lack of calories
Watson Scwarz test +ve

Question 2

Porphyria cutanea tarda

Answer 2

Uroporphyrinogen decarboxylase
Blistering skin after sun exposure, superficial scarring, onycholysis, hyperpigmentation
Exacerbated by alcohol

Question 3

Congenital erythropoeitic porphyria

Answer 3

Autosomal dominant
Uroporphyrinogen synthase
Blistering skin lesion after sun exposure with scarring in children

Question 4

Variegate porphyria

Answer 4

Autosomal dominant
Protoporphyrinogen oxidase
Acute abdominal pain + blistering skin lesion after sun exposure in adults

Question 5

Erythropoeitic protoporphyria

Answer 5

Ferrochetolase

Painful non-blistering skin lesion after sun exposure with no scarring in children

Question 6

ALA dehydratase deficiency

Answer 6

Autosomal recessive
PBG synthase
Early childhood
Abdominal pain + motor neuropathy + pysch symptoms

Question 7

Hereditary coproporphyria

Answer 7

Autosomal dominant
Coproporphyrinogen oxidase
Acute abdominal pain + blistering skin lesion on sun exposed areas
Triggered by alcohol, drugs, diet