Sioḃán Keel

Genetic testing to distinguish X-linked protoporphyria from erythropoietic protoporphyria informed iron replacement therapy leading to reversal of severe protoporphyric hepatopathy

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are cutaneous porphyrias characterized by excess protoporphyrin IX (PPIX), leading to photosensitivity and, in a minority of patients, progressive hepatobiliary injury. Although XLP and EPP have similar clinica...