Year: 2017
Type: letter
Abstract: Potential conflict of interest: Dr. Balwani consults for and received grants from Alnylam. She consults for Recordati. Dr. Bonkovsky consults for and received grants from Alnylam and Mitsubishi‐Tanabe. He received grants from Gilead. Dr. Bissell consults for Recordati, Alnylam, and Mitsubishi‐Tanabe. Dr. Wang consults for Alnylam and Recordati. Dr. Desnick consults for and holds intellectual property rights with Alnylam. He consults for Recordati. Dr. Bloomer advises Recordati. He received grants from Alnylam. We thank Jaramillo‐Calle et al. for their interest in our article and for their case report. Their description of a young woman with acute intermittent porphyria (AIP) who underwent orthotopic liver transplantation (OLT) for intractable recurrent acute attacks not responding to heme infusions is consistent with our experience and the published evidence. To date, there have been 15 published cases of OLT for AIP.1 Fourteen of these were for frequent acute attacks that had become unresponsive to intravenous heme and other therapies. The mean age at the time of transplant was 34 years, and 14 of the 15 were women. Secondary iron overload, due to repeated infusions of heme, was common in this group as 7 of 10 patients in the UK and Ireland cohort had siderosis in the explant liver.3 In Europe, AIP patients have not received exception points when listed for OLT.1 The one US patient was given Model for End‐Stage Liver Disease exception points of 25 at the time of listing and received additional points every 90 days. At transplant, her Model for End‐Stage Liver Disease score was 35.2 OLT corrects the enzyme defects in the liver and prevents further acute attacks in AIP. Porphobilinogen declines within the first 48 hours posttransplant, as was the case in this report.2 As Jaramillo‐Calle et al. noted, neurologic deficits do not reliably reverse after OLT. The long‐term outcomes for OLT in AIP patients are similar to those for the general OLT patient population, with 3‐month survival at 93% and 5‐year survival at 77%.2 We agree that OLT should be considered for AIP patients with severe recurrent attacks, resistance to intravenous heme, and persistent or progressing neurological deficits. It remains to be seen if givosiran, a promising small interfering RNA therapy currently in trials,4 will be effective in patients with heme resistance.
Source: Hepatology
DOI: 10.1002/hep.29674
Institutions: University of California, San Francisco, University of California San Francisco Medical Center, Icahn School of Medicine at Mount Sinai, Atrium Health Wake Forest Baptist, The University of Texas Medical Branch at Galveston, University of Alabama, University of Alabama at Birmingham, University of Utah
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4230456245