Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy

Frontiers in Medicine

Sergei Merkulov²  Alona A. Merkulova³  Steven C. Mitchell³  Alvin H. Schmaier⁴  Alisa S. Wolberg⁵  Marguerite Neerman-Arbez⁶ 

[1] Department of Genetic Medicine and Development, University Medical Center Geneva, Geneva, Switzerland;Department of Medicine, Cardiovascular Medicine, Case Western Reserve University, Cleveland, OH, United States;Department of Medicine, Hematology and Oncology, Case Western Reserve University, Cleveland, OH, United States;Department of Medicine, Hematology and Oncology, University Hospitals Cleveland Medical Center, Cleveland, OH, United States;Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, United States;Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland;

关键词: dysfibrinogenemia;    everolimus;    CVID;    fibrin polymerization;    dysfibrinogenemia Krakow III;   

DOI  :  10.3389/fmed.2020.591546

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown