SHM Converge Scientific Abstract ePoster Gallery-Just Use Thiamine!

Pdf Summary

This case describes a 19-year-old man with type 1 diabetes, congenital retinal dystrophy, and a family history of sensorineural hearing loss who presented with fatigue, dyspnea, and pancytopenia. Initial workup ruled out nutritional deficiencies, leukemia, lymphoma, and PNH. Bone marrow biopsy showed hypercellularity, megakaryocytic atypia, and ringed sideroblasts. After transfusions, his blood counts temporarily normalized, but pancytopenia recurred one month later. Genetic testing then revealed two abnormal variants in SLC19A2, supporting a diagnosis of thiamine-responsive megaloblastic anemia (TRMA). He improved completely after treatment with oral thiamine.<br /><br />TRMA is a rare autosomal recessive disorder caused by mutations in SLC19A2, which encodes a thiamine transporter. The classic triad includes megaloblastic/sideroblastic anemia, diabetes mellitus, and progressive sensorineural hearing loss. Other possible features include ophthalmologic, cardiovascular, and neurologic abnormalities. Early recognition is important because thiamine supplementation can reverse anemia, reduce insulin needs, and improve hematologic abnormalities, though hearing loss is usually irreversible.<br /><br />The key message is that in young patients with unexplained anemia or pancytopenia, especially when diabetes, hearing loss, or retinal disease are present, TRMA should be considered. Lifelong oral thiamine is the main treatment, with transfusions reserved for severe episodes, and at-risk family members should be tested.

Asset Subtitle

Michael A. Pascoe

Meta Tag

Author List Adam Gray, Michael A. Pascoe

Category Clinical Vignettes

Concept Thiamine-Responsive Megaloblastic Anemia

Concept Sideroblastic Anemia

Concept Hearing Loss

Concept Diabetes Mellitus

Concept SLC19A2

Distinguished Non-Finalist

Presenter Organization University of Kentucky

Presenting Author Michael A. Pascoe

Track Adult

Keywords

thiamine-responsive megaloblastic anemia

SLC19A2

pancytopenia

type 1 diabetes

sensorineural hearing loss

ringed sideroblasts

bone marrow biopsy

thiamine supplementation

retinal dystrophy

autosomal recessive disorder

Thiamine-Responsive Megaloblastic Anemia

Sideroblastic Anemia

Hearing Loss

Diabetes Mellitus

SLC19A2