Published online Jun 16, 2022. doi: 10.12998/wjcc.v10.i17.5702
Peer-review started: November 16, 2021
First decision: February 14, 2022
Revised: February 24, 2022
Accepted: April 2, 2022
Article in press: April 2, 2022
Published online: June 16, 2022
Processing time: 204 Days and 17.4 Hours
Patients with paroxysmal nocturnal hemoglobinuria (PNH) have a clonal population of blood cells deficient in glycosylphosphatidylinositol-anchored (GPI-anchored) proteins, most of the time resulting from a mutation in the X-linked gene PIGA. We report a patient with PNH resulting from a rare biallelic PIGT mutation on chromosome 20.
A 47-year-old man was referred to our hospital for febrile pancytopenia. The patient reported a history of recurrent urticaria and arthralgia and he presented during 3 mo recurrent acute dermo-hypodermitis and aseptic meningitidis. Based on clinical cases published with PIGT-PNH, with clinically typical PNH and autoinflammatory symptoms, we treated our patients with repeated infusions of eculizumab to decrease autoinflammatory symptoms and then we performed an allogeneic stem cell transplantation (allo-SCT) with a mismatched unrelated donor. Our patient experienced no acute Graft vs Host disease (GvHD) and a moderate chronic GvHD and is now considered cured at 24 mo after allo-SCT.
This case report suggests that allo-SCT should be considered to cure PIGT-PNH patients.
Core Tip: Paroxysmal nocturnal hemoglobinuria with autoinflammatory symptoms has been described in 4 cases with PIG-T mutations (PIGT-PNH entity). We report the fifth case in the world. For the first time we treated him with an allogeneic hematopoietic stem cell transplantation (allo-SCT) after repeated infusions of eculizumab to decrease autoinflammatory symptoms. Allo-SCT was performed with a mismatched unrelated donor and no excess of alloreactivity or toxicity was observed. We think that this new case report with a review of literature will help physicians to have a focus on PIGT-PNH. It suggests that allogeneic SCT should be considered as a curative treatment option for this disease.