Abstracts
PO73
Rogers Syndrome Masquerading as Chronic Immune Thrombocytopenia: A Case Report
Introduction/Background/Significance: Rogers syndrome (thiamine-responsive megaloblastic anemia, TRMA) is a rare autosomal recessive disorder caused by biallelic SLC19A2 pathogenic variants, classically presenting with megaloblastic anemia, sensorineural hearing loss, and non-autoimmune diabetes mellitus. While mild cytopenias are recognized, severe recurrent thrombocytopenia mimicking chronic immune thrombocytopenia (ITP) is underappreciated and may lead to prolonged diagnostic delay and unnecessary immunosuppression.
Materials and Methods/Case Presentation/Objective: A 29-year-old Pakistani woman with congenital sideroblastic anemia, insulin-dependent diabetes, and bilateral sensorineural hearing loss presented to establish hematologic care. She had a >10-year history of recurrent severe thrombocytopenia (nadir 4,000/μL), typically triggered by viral illnesses, managed as chronic ITP with intermittent corticosteroids and one dose of IVIG. Platelet antibodies were positive. Chronic steroid exposure resulted in osteopenia (T-score −2.0). Her sister was diagnosed with Rogers syndrome in 2019, prompting genetic evaluation. SLC19A2 deletion/duplication analysis identified a homozygous pathogenic variant, c.958T >C (p.Trp320Arg), confirming TRMA. Management was restructured: corticosteroids were discontinued, and lifelong thiamine (100 mg daily), B-complex vitamins, folic acid, and B12 were initiated. Platelet counts stabilized off steroids. Multidisciplinary surveillance with cardiology, neurology, ophthalmology, and audiology was unremarkable except for progressive hearing loss requiring cochlear implantation. Diabetes management was optimized with an insulin pump and continuous glucose monitor. Carrier screening was initiated for her husband.
Results/Description/Main Outcome Measure(s): This case illustrates that TRMA-associated thrombocytopenia can be severe, recurrent, and steroid-responsive, closely mimicking chronic ITP. Diagnostic delay exposed this patient to over a decade of corticosteroid-related morbidity. The presence of the classic TRMA triad-megaloblastic anemia, diabetes, and hearing loss-should prompt early SLC19A2 genetic testing, even when platelet antibodies suggest autoimmune etiology. Thiamine supplementation enabled steroid discontinuation while maintaining hematologic stability.
Conclusion(s).: Rogers syndrome should be considered in the differential diagnosis of recurrent thrombocytopenia with concurrent anemia, diabetes, and hearing loss. Early genetic confirmation prevents unnecessary immunosuppression and enables targeted thiamine therapy.
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References:
Materials and Methods/Case Presentation/Objective: A 29-year-old Pakistani woman with congenital sideroblastic anemia, insulin-dependent diabetes, and bilateral sensorineural hearing loss presented to establish hematologic care. She had a >10-year history of recurrent severe thrombocytopenia (nadir 4,000/μL), typically triggered by viral illnesses, managed as chronic ITP with intermittent corticosteroids and one dose of IVIG. Platelet antibodies were positive. Chronic steroid exposure resulted in osteopenia (T-score −2.0). Her sister was diagnosed with Rogers syndrome in 2019, prompting genetic evaluation. SLC19A2 deletion/duplication analysis identified a homozygous pathogenic variant, c.958T >C (p.Trp320Arg), confirming TRMA. Management was restructured: corticosteroids were discontinued, and lifelong thiamine (100 mg daily), B-complex vitamins, folic acid, and B12 were initiated. Platelet counts stabilized off steroids. Multidisciplinary surveillance with cardiology, neurology, ophthalmology, and audiology was unremarkable except for progressive hearing loss requiring cochlear implantation. Diabetes management was optimized with an insulin pump and continuous glucose monitor. Carrier screening was initiated for her husband.
Results/Description/Main Outcome Measure(s): This case illustrates that TRMA-associated thrombocytopenia can be severe, recurrent, and steroid-responsive, closely mimicking chronic ITP. Diagnostic delay exposed this patient to over a decade of corticosteroid-related morbidity. The presence of the classic TRMA triad-megaloblastic anemia, diabetes, and hearing loss-should prompt early SLC19A2 genetic testing, even when platelet antibodies suggest autoimmune etiology. Thiamine supplementation enabled steroid discontinuation while maintaining hematologic stability.
Conclusion(s).: Rogers syndrome should be considered in the differential diagnosis of recurrent thrombocytopenia with concurrent anemia, diabetes, and hearing loss. Early genetic confirmation prevents unnecessary immunosuppression and enables targeted thiamine therapy.
Trademarked Items:
References:
