Abstract

Myelodysplastic syndrome (MDS) has been seen in U2AF1 mutations in patients younger than 50 with high risk of developing Acute Myeloid Leukemia. It is a rare complication associated with dyskeratosis congenita along with features of avascular necrosis and pulmonary fibrosis. The infrequency upon which MDS, DC, avascular necrosis, and pulmonary fibrosis are being assessed specifically in a younger patient in a resource-limited setting makes this a unique case. We present a 30-year-old male seen for syncope and found to have pancytopenia. He displayed symptoms later found to be consistent with dyskeratosis congenita. Initial bone marrow biopsy and aspiration showed megakaryocytic and erythroid dysplasia. After persistent anemia and thrombocytopenia, he initiated Rituximab but had worsening thrombocytopenia.  Repeat bone marrow biopsy conducted over 3 years after initial presentation showed mild hypocellular marrow with trilineage hematopoiesis and erythroid and megakaryocytic dyspoiesis, 4% blasts. Heme-STAMP demonstrated U2AF1 mutation consistent with MDS. He was started on Azacitidine, which improved cell counts. He underwent allogeneic hematopoietic cell transplantation and is continuing to be monitored. This case illustrates a rare patient case that necessitated an extensive, multi-disciplinary approach to diagnose and treat MDS and its complications to attain optimal patient outcomes. It is a multi-faceted team effort to help patients with complicated systemic diseases. In an era of an increasing number of cancer patients and shortages of oncologists, especially in resource-limited settings with lower accessibility and convenience of specialty care, PCPS are actively involved and can improve access and quality care in patients with MDS.