How is congenital erythropoietic porphyria treated?

Updated: Aug 31, 2020
  • Author: Brenda Chiang, DO; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Congenital erythropoietic porphyria

  • Hematopoietic stem cell transplantation (HSCT) has been used successfully in severe cases of congenital erythropoietic porphyria and erythropoietic porphyria, especially in the setting of symptomatic hemolytic anemia and thrombocytopenia. [94, 95, 96, 97, 98]
  • In congenital erythropoietic porphyria mice, the proteasome inhibitor bortezomib has been used with some success to reverse the premature mutant protein degradation caused by deficiency of uroporphyrinogen III synthase. [99]
  • Pharmacological chaperone molecules and gene therapy are being investigated in congenital erythropoietic porphyria. [100]


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