title: Refractory autoimmune hemolytic anemia in a patient with DiGeorge syndrome treated successfully with plasma exchange: a case report and review of the literature.
abstract: Warm antibody autoimmune hemolytic anemia (AIHA) results from targeted antibodies towards the red blood cells (RBCs) and can be either idiopathic or secondary to certain diseases, such as autoimmune disorders or malignancy, drugs, or infection. Patients with DiGeorge syndrome are particularly vulnerable to autoimmune conditions secondary to thymic hypoplasia and dysfunction of the immune system. First-line therapy for AIHA consists of corticosteroids, with most patients showing signs of response. Relapses are not uncommon and are treated with splenectomy or rituximab. There is a paucity of reports in the literature regarding treatment options beyond this stage. Herein, we describe an unusual case of a 20-year-old female affected by DiGeorge syndrome with a history of immune thrombocytopenia (ITP), who presented with life-threatening AIHA. Standard first- and second-line therapeutic modalities were ineffective in controlling her disease and she ultimately underwent plasma exchange therapy with successful resolution of hemolysis. At her last follow-up, one year after her initial presentation, she remains clinically well without signs of hemolysis. We conclude that in refractory cases of warm AIHA, plasma exchange therapy can be a valuable tool in the therapeutic armamentarium.
authors: Division of Hematology, Department of Medicine, McGill University Health Centre (MUHC), Montreal General Hospital, Room A7.117.1, 1650 Cedar Avenue, Montreal, QC, H3G 1A4, Canada.
authors: Moussab
authors: M
authors: Damlaj
authors: Chantal
authors: C
authors: Séguin
mesh_terms: D000293:Adolescent; D000744:Anemia, Hemolytic, Autoimmune / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D004062:DiGeorge Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D010951:Plasma Exchange; D013156:Splenectomy / Q000009:adverse effects; D016896:Treatment Outcome; D055815:Young Adult