- A 24 years old lady came to the ER with bullous eruptions on her skin. It
was May month and very sunny outside and she had gone out in the sun. She
had recently started a prescription of oral contraceptives. On examination
in the ER she was found to be disoriented to time and place. Her blood
pressure was found to be 180/90 mmHg. Which of the following statements is
false?
- This disorder is autosomal dominant
- The abnormality lies in the heme biosynthesis pathway
- There are anti basement membrane antibodies
- The oral contraceptives have a role to play in the pathogenesis of this
disorder.
Answer: The answer is (c). This is a case of variegate porphyria. All the
porphyrias are defects in the biosynthetic pathway of heme. Variegate porphyria
is autosomal dominant and is characterized by bullous eruptions of the skin.
Also associated are features of acute intermittent porphyria namely,
disorientation, polyneuropathy, hypertension and abdominal pain.