Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy

Alona A Merkulova; Steven C Mitchell; Sergei Merkulov; Alisa S Wolberg; Marguerite Neerman-Arbez; Alvin H Schmaier

doi:10.3389/fmed.2020.591546

Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy

Front Med (Lausanne). 2020 Nov 27:7:591546. doi: 10.3389/fmed.2020.591546. eCollection 2020.

Authors

Alona A Merkulova¹, Steven C Mitchell¹, Sergei Merkulov², Alisa S Wolberg³, Marguerite Neerman-Arbez^{4

5}, Alvin H Schmaier^{1

6}

Affiliations

¹ Department of Medicine, Hematology and Oncology, Case Western Reserve University, Cleveland, OH, United States.
² Department of Medicine, Cardiovascular Medicine, Case Western Reserve University, Cleveland, OH, United States.
³ Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, United States.
⁴ Department of Genetic Medicine and Development, University Medical Center Geneva, Geneva, Switzerland.
⁵ Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland.
⁶ Department of Medicine, Hematology and Oncology, University Hospitals Cleveland Medical Center, Cleveland, OH, United States.

Abstract

A previously hemostatically asymptomatic patient with common variable hypogammaglobulinemia was given everolimus to prevent growth of her liver. Within several months, the patient developed a severe bleeding disorder. The bleeding was due to fibrin polymerization defect that upon sequencing was shown to be dysfibrinogenemia Krakow III. Elimination of the mTor inhibitor ameliorated the clinical bleeding state.

Keywords: CVID; dysfibrinogenemia; dysfibrinogenemia Krakow III; everolimus; fibrin polymerization.

Publication types

Case Reports

Grants and funding

R01 HL126974/HL/NHLBI NIH HHS/United States