Response of Pure Red Cell Aplasia to Cyclophosphamide After Failure of Mycofenolate Mofetil in a Patient With Polyglandular Syndrome Type I

Abstract

A 26-year-old female with the classic major and minor components of autoimmune polyglandular syndrome type 1 was diagnosed as having pure red cell aplasia. Treatment with 1.5 g/d mycofenolate mofetil for 3 months failed to restore erythroid production. Treatment with cyclosporine A produced a good partial response but led to renal toxicity and was therefore substituted with cyclophosphamide, which had a good partial effect and lasted for 18 months. The relapse of anemia was not observed during the 6-month follow-up period after the cessation of treatment.

A case report and literature review

“…While the disease was also seen in one Russian and one Serbian patient both with homozygous R257X mutation. [ 35 , 36 ] In our study, there were some special cases of APS-1. Systemic lupus erythematosus (SLE) coexisting with APS-1 was reported in one Chinese female with APS-1 (patient 22).…”

Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes

“…The child is currently in clinical and hematological remission of disease, transfusion-indipendent with normal blood count despite graft failure occurred twice as documented by the complete patient myeloid recovery at chimerism analysis. Given the fact that hematological remission have been described in patients with PRCA associated with APS-1 treated with cyclophosphamide (11, 12), we hypothesize that the recovery of erithropoiesis observed after the second HSCT was the immunosuppressive effect of cyclophosphamide, included in the conditioning regimen. In conclusion, we found out that APS-1 has a significant clinical heterogeneity despite the same genetic mutation and this has to be considered in the differential diagnosis of pure red cell aplasia.…”

“…The therapy of PRCA associated with APS-1 is currently not standardized due to the rarity of the disease. In the cases reported in the literature the therapy that was used with good results was corticosteroid (12–14), cyclophosphamide (11–13), mycophenolate mofetil (10), plasmapheresis (13), immunoglobulin (8, 13, 14), cyclosporine (8), antithymocyte globulin (ATG) (8). In our patient, no benefit was obtained by treatment with immunoglobulin, corticosteroid, and erythropoietin therapy.…”

Large granular lymphocytic leukemia complicating autoimmune polyglandular syndrome type 1 in siblings

“…A review of the literature reveals six cases of APS1 associated with pure red cell aplasia prior to the present report. Orlova and colleagues recently reviewed this literature, following their experience with a 26‐year‐old woman with APS1 who developed pure red cell aplasia responsive to mycophenolic acid . Prior reports of pure red cell aplasia in the setting of APS1 have not described siblings with pure red cell aplasia complicating the course of more than one family member .…”