A curious case of delayed hemolytic transfusion reaction with evanescent antibodies in a patient with hereditary hemorrhagic telangiectasia.

Background: Delayed hemolytic reactions are potential complications of incompatible transfusions and are usually associated with the identification of a new antibody on serologic studies, following a second immunization event. However, in rare cases, the antibody investigation remains negative even if the clinical presentation would lead one to suspect otherwise.

Case Report: A 44-year-old woman with hereditary hemorrhagic telangiectasia presented to the emergency department with hematuria and low back pain after she had received three units of RBCs 2 weeks earlier. Hematology and biochemistry results were consistent with delayed hemolytic transfusion reaction, but surprisingly, serologic antibody investigations were negative. It was only when her plasma was tested with enzyme (ficin)-treated panel cells that anti-e was finally detected, with a 3+ reaction with all homozygous e+ cells. No reaction was seen with heterozygous e+ cells. Four months later, an anti-K was also detected on standard panels, while the anti-e remained detectable only with ficin-treated panel cells. Three years later, both antibodies had vanished and remained undetectable. The weakness of anti-e reaction, combined with the quick evanescence of both antibodies led to the suspicion of a potential underlying immunodeficiency disorder, which was confirmed by low immunoglobulin levels on two occasions.

Conclusion: To our knowledge, this is the first case of immunodeficiency disorder diagnosed after the identification of evanescent antibody reactions. This case also outlines the importance of a good clinical history that should lead to further investigations when a hemolytic transfusion reaction is suspected.