Hepatoerythropoietic 
Porphyria

Summary

  1. HEP is a form of cutaneous porphyria and is known to cause skin blistering and scarring, sunlight sensitivity, and anaemia.

  2. Symptoms often start in infancy and childhood, but some may not appear until adulthood

  3. HEP presents similarly to PCT.

HEP is an extremely rare form of porphyria caused by inheriting a mutation in the UROD gene from both parents (autosomal recessive). It presents like PCT with skin changes, but in childhood. There is no increased risk of acute attacks or liver cancer, but it can be more resistant to the usual treatments for PCT.