Loeys-Dietz syndrome with concomitant aplastic anemia.

This document is a letter published in the Annals of Hematology. It reports on a case of an 18-year-old female with Loeys-Dietz syndrome (LDS) and concomitant aplastic anemia (AA). The patient presented with symptoms of generalized pruritus and was diagnosed with AA based on pancytopenia and hypocellular bone marrow. Whole-exome sequencing revealed a SMAD3 mutation in the patient, and subsequent computed tomography angiography (CTA) showed a tortuous right vertebral artery. The letter discusses the findings related to CD8+ T cells and Notch signaling in the patient, suggesting a potential connection between LDS and AA. The patient declined bone marrow transplantation and was treated with eltrombopag and cyclosporin. The authors recommend annual echocardiogram and CTA for monitoring. The study was approved by the Ethics Committee, and written informed consent was obtained from the patient and her guardians. The authors declare no competing interests. [Extracted from the article]