Porphyrias Flashcards
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Variegate porphyria
- ALA dehydratase deficiency
- X-linked sideroblastic anemia
- Erythropoietic protoporphyria
- Familial porphyria cutanea tarda
- Hereditary coproporphyria
- Pseudoporphyria
- Sporadic porphyria cutanea tarda
- Transient erythroporphyria of infancy
A 13 year old boy presents in A&E with blisters on his face. The mother tells you that this has occurred before after exposure to sunlight. She had also given him ibuprofen to no avail. Tests show no abnormalities in urine and serum porphyrin.
Pseudoporphyria
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Variegate porphyria
- ALA dehydratase deficiency
- X-linked sideroblastic anemia
- Erythropoietic protoporphyria
- Familial porphyria cutanea tarda
- Hereditary coproporphyria
- Pseudoporphyria
- Sporadic porphyria cutanea tarda
- Transient erythroporphyria of infancy
A 35 year old gentlemen with hyperpigmentation says that after exposure to sunlight, he develops blistering on the face similar to his father. LFT’s reveal raised AST and ALT. The doctor says that this is the most common porphyria subtype.
Familial porphyria cutanea tardaa
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Variegate porphyria
- ALA dehydratase deficiency
- X-linked sideroblastic anemia
- Erythropoietic protoporphyria
- Familial porphyria cutanea tarda
- Hereditary coproporphyria
- Pseudoporphyria
- Sporadic porphyria cutanea tarda
- Transient erythroporphyria of infancy
A 32 year old banker presents to you with severe abdominal pain, nausea, vomiting and paranoia after celebrating his pay rise the night before with his colleagues. Urine tests reveal raised porphobilinogen (PBG) and aminolevulinic acid (ALA).
Acute intermittent porphyria
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Variegate porphyria
- ALA dehydratase deficiency
- X-linked sideroblastic anemia
- Erythropoietic protoporphyria
- Familial porphyria cutanea tarda
- Hereditary coproporphyria
- Pseudoporphyria
- Sporadic porphyria cutanea tarda
- Transient erythroporphyria of infancy
An 11 year old boy presents with extreme sensitivity to light. You notice that there is blistering of the face and the boy is itching it. He reports pain 10/10. Plasma tests reveal high porphyrin levels.
Erythropoietic protoporphyria
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Variegate porphyria
- ALA dehydratase deficiency
- X-linked sideroblastic anemia
- Erythropoietic protoporphyria
- Familial porphyria cutanea tarda
- Hereditary coproporphyria
- Pseudoporphyria
- Sporadic porphyria cutanea tarda
- Transient erythroporphyria of infancy
A 23 year old student presents with both abdominal pain and blistering of the skin. Upon questioning, he reports that he has recently changed to a high protein diet to get “big” at the gym. He does not know his biological parents as he is adopted.
Hereditary coproporphyria
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Porphobilinogen
- ALA dehydratase deficiency porphyria
- Porphyria cutanea tarda
- ALA dehydrogenase
- Protoporphyrin oxidase
- ALA synthase
- Urobilinogen
- Ferrochelatase
- Variegate porphyria
- Heam
- Hereditary coproporphyria
- Lead
Erythropoietic porphyria is caused by a deficiency in which enzyme?
Ferrochelatase
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Porphobilinogen
- ALA dehydratase deficiency porphyria
- Porphyria cutanea tarda
- ALA dehydrogenase
- Protoporphyrin oxidase
- ALA synthase
- Urobilinogen
- Ferrochelatase
- Variegate porphyria
- Heam
- Hereditary coproporphyria
- Lead
Which type of porphyria is caused by protoporphyrinogen oxidase deficiency?
Variegate porphyria
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Porphobilinogen
- ALA dehydratase deficiency porphyria
- Porphyria cutanea tarda
- ALA dehydrogenase
- Protoporphyrin oxidase
- ALA synthase
- Urobilinogen
- Ferrochelatase
- Variegate porphyria
- Heam
- Hereditary coproporphyria
- Lead
Which type of porphyria is autosomal recessive and commonly shows neurovisceral signs only?
ALA dehydratase deficiency porphyria
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Porphobilinogen
- ALA dehydratase deficiency porphyria
- Porphyria cutanea tarda
- ALA dehydrogenase
- Protoporphyrin oxidase
- ALA synthase
- Urobilinogen
- Ferrochelatase
- Variegate porphyria
- Heam
- Hereditary coproporphyria
- Lead
A 30 year female arrives at A&E with a fever, abdominal pain and a tingling in her hands and arms. She appears very anxious and says that earlier her urine was a “funny colour”.
Acute intermittent porphyria
Choose the most appropriate answer from the list
- Acute intermittent porphyria
- Porphobilinogen
- ALA dehydratase deficiency porphyria
- Porphyria cutanea tarda
- ALA dehydrogenase
- Protoporphyrin oxidase
- ALA synthase
- Urobilinogen
- Ferrochelatase
- Variegate porphyria
- Heam
- Hereditary coproporphyria
- Lead
To test for an acute porphyria, the Watson-Schwartz test looks for elevated urinary levels of which compound?
Porphobilinogen
