Porphyrias

Question 0

Acute Intermittent Porphyria

Deficiency?
Symptoms?

Answer 0

Porphobilinogen (PBG) deaminase deficiency (HMB synthase def)

neuro-visceral symptoms - abdo pain, seizures, psych disturbances, N&V,
NO cutaneous manifestations

Question 1

Porphyria

Define.

Answer 1

Disorder caused by deficiency in enzymes involved in haem biosynthesis, leading to build up of toxic haem products.

Question 2

Acute Intermittent Porphyria

Diagnosis?

Treatment?

Answer 2

ALA and PBG in urine (port wine urine)

Avoid precipitating factors
Analgesia
IV carbohydrate (5%dextrose)
IV haem arginate

Question 3

Porphyria Cutanea Tarda

Deficiency?

Symptoms?

Answer 3

Uroporphyrinogen decarboxylase deficiency

Cutaneous - vesicles (crusting, pigmented, superficial scarring)
Sun exposed sites

Question 4

Variegate Porphyria

Deficiency?

Symptoms?

Answer 4

Protoprophyrinogen oxidase

Neuro attacks AND skin lesions

Question 5

Acute Intermittent Porphyria

Precipitating Factors?

Answer 5

ALA synthase inducers ( steroids, ethanol, barbituates)

stress (infection, surgery)

Reduced caloric intake and endocrine factors

Question 6

Porphyria Cutanea Tarda

Diagnosis?

Answer 6

Increased urinary Uroporphyrins + coproporphyrins

Increased ferritin

Question 7

Erythropoietic Protoporphyria

Ax with?

Symptoms?

Answer 7

Myelodysplastic syndromes

Photosensitivity
Burning
Itching oedema

Question 8

Erythropoietic Protoporphyria

Deficiency?

Answer 8

Ferrochetalase

Question 9

ALA synthase deficiency causes?

Answer 9

X linked sideroblastic anaemia