Genetic testing to distinguish X-linked protoporphyria from erythropoietic protoporphyria informed iron replacement therapy leading to reversal of severe protoporphyric hepatopathy
Christopher D. Ma, Giuliana Arevalo, Siobán B. Keel, Cynthia Levy · 2026
Read Genetic testing to distinguish X-linked protoporphyria from erythropoietic protoporphyria informed iron replacement therapy leading to reversal of severe protoporphyric hepatopathy by Christopher D. Ma, Giuliana Arevalo, Siobán B. Keel, Cynthia Levy (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13659676.txt.
Description
Christopher Ma, Giuliana Arevalo, Siobán Keel, and Cynthia Levy describe a man whose liver disease returned after a transplant because his true diagnosis had been missed. He had long been treated for erythropoietic protoporphyria, a disorder in which protoporphyrin builds up, causing pain in sunlight and, in a minority, liver failure. After the transplant his symptoms and porphyrin levels worsened, and biopsies showed heavy porphyrin deposits in the new liver.
Genetic testing during a bone marrow transplant workup revealed a faulty ALAS2 gene, which means he actually had the X-linked form of the disease. That distinction matters because iron treatment lowers porphyrin in the X-linked form but not reliably in the other. Once oral iron began, his light sensitivity eased quickly and his liver tests improved as porphyrin levels fell.
Catalog record
| CREATOR | Christopher D. Ma, Giuliana Arevalo, Siobán B. Keel, Cynthia Levy |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 25 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |