Abstract
A 33-year-old man with type 1 diabetes mellitus was admitted to the Internal Medicine Unit due to subacute onset of exertional dyspnea, with evidence at initial blood exams of severe macrocytic anemia with thrombocytopenia, biohumoral signs of hemolysis and 5 schistocytes per magnified field on the blood smear. A thrombotic microangiopathy (TMA) was suspected and plasma exchange (PEX) was started soon, since the risk of a life threatening condition. On the second day, after the results of A Disintegrin And Metalloproteinase with ThromboSpondin-1 motif, member 13 (ADAMTS-13) and reticulocytes were available, a critical reappraisal of the clinical scenario was done. B12 vitamin deficiency was evident after completing the diagnostic work-up. Finally, a diagnosis of “pseudo TMA vitamin B12 deficiency-related” was done. This is an intriguing and rare manifestation of cobalamin deficiency, given the very uncommon occurrence of schistocytes in this condition. “Pseudo TMA vitamin B12 deficiency-related” should be kept in mind when facing the differential diagnosis of microangiopathic anemia in the presence of a low proliferative index.
References
Rock GA, Shumak KH, Buskard NA et al (1991) Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. N Engl J Med 325:393–397. https://doi.org/10.1056/NEJM199108083250604
Amorosi EL, Ultmann JE (1966) Thrombotic thrombocytopenic purpura: report of 16 cases and review of the literature. Medicine. 45:139–160
George JN, Nester CM (2014) Syndromes of thrombotic microangiopathy. N Engl J Med 371(7):654–666. https://doi.org/10.1056/NEJMra1312353
Joly BS, Coppo P, Veyradier A (2017) Thrombotic thrombocytopenic purpura. Blood 129:2836–2846. https://doi.org/10.1182/blood-2016-10-709857
Yoshida Y, Kato H, Nangaku M (2017) Atypical hemolytic uremic syndrome. Ren Replace Ther 3:5. https://doi.org/10.1186/s41100-016-0088-1
Bommer M, Wölfle-Guter M, Bohl S, Kuchenbauer F (2018) The Differential Diagnosis and treatment of thrombotic microangiopathies. Deutsches Arzteblatt Int 115(19):327–334. https://doi.org/10.3238/arztebl.2018.0327
Page EE, Kremer Hovinga JA, Terrell DR, Vesely SK, George JN (2017) Thrombotic thrombocytopenic purpura: diagnostic criteria, clinical features, and long-term outcomes from 1995 through 2015. Blood Adv 1(10):590–600. https://doi.org/10.1182/bloodadvances.2017005124
Schwartz J, Padmanabhan A, Aqui N et al (2016) Guidelines on the use of therapeutic apheresis in clinical practice–evidence-based approach from the writing committee of the american society for apheresis: the seventh special issue. J Clin Apheresis 31:149–338. https://doi.org/10.1002/jca.21470
Zini G, D’onofrio G, Briggs C et al (2012) ICSH recommendations for identification, diagnostic value, and quantitation of schistocytes. Int J Lab Hematol 34:107–116. https://doi.org/10.1111/j.1751-553X.2011.01380.x
Bendapudi PK, Li A, Hamdan A et al (2014) Derivation and prospective validation of a predictive score for the rapid diagnosis of thrombotic thrombocytopenic purpura: the plasmic score. Blood 124(21):231–237
Andrès E, Affenberger S, Zimmer J et al (2006) Current hematological findings in cobalamin deficiency. a study of 201 consecutive patients with documented cobalamin deficiency. Clin Lab Haematol 28:50–56. https://doi.org/10.1111/j.1365-2257.2006.00755.x
Noël N, Maigné G, Tertian G et al (2013) Haemolysis and schistocytosis in the emergency department: consider pseudothrombotic microangiopathy related to vitamin B12 deficiency. QJM 106(11):1017–1022. https://doi.org/10.1093/qjmed/hct142
Yousaf F, Spinowitz B, Charytan C, Galler M (2017) Pernicious anemia associated cobalamin deficiency and thrombotic microangiopathy: case report and review of the literature. Case Rep Med 2017:9410727. https://doi.org/10.1155/2017/9410727
Tran PN, Tran MH (2018) Cobalamin deficiency presenting with thrombotic microangiopathy (TMA) features: a systematic review. Transfus Apher Sci 57:102–106. https://doi.org/10.1016/j.transci.2018.01.003
Acknowledgements
We are grateful to Dr Chiara Travaglia for the language editing of the manuscript.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Statement of human and animal rights
This article does not contain any studies with human participants or animals performed by any of the authors.
Informed consent
None.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Pieralli, F., Milia, A., Fruttuoso, S. et al. The doctor who stared at schistocytes: an intriguing case of suspected thrombotic microangiopathic anemia. Intern Emerg Med 16, 437–441 (2021). https://doi.org/10.1007/s11739-019-02219-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11739-019-02219-9