SHM Converge Scientific Abstract ePoster Gallery-A Tale of Megaloblastic Madness

Pdf Summary

This document describes pernicious anemia (PA), an autoimmune cause of vitamin B12 deficiency, and presents a case illustrating how PA can produce both severe hematologic and neuropsychiatric symptoms. PA is often difficult to diagnose because its manifestations are broad and may be subtle or atypical. The gold standard for diagnosis is evidence of intrinsic factor deficiency, typically supported by a positive intrinsic factor antibody.<br /><br />The case involves a 37-year-old woman with no significant past medical history who presented after abnormal labs revealed profound anemia (hemoglobin 5.1 g/dL). Although heavy menstrual bleeding initially suggested iron deficiency anemia, iron studies were normal. Additional testing showed markedly low vitamin B12 (56 pg/mL), elevated LDH, low haptoglobin, and later a positive intrinsic factor antibody, confirming pernicious anemia. She also had pancytopenia.<br /><br />Her presentation was unusual because she had significant neuropsychiatric symptoms alongside hematologic findings. For two years, she had paranoid auditory hallucinations, mistrust, social withdrawal, poor self-care, and bizarre beliefs about her deceased parents. This combination of severe psychiatric and blood abnormalities is atypical, since hematologic and neuropsychiatric manifestations of cobalamin deficiency often do not occur equally.<br /><br />She was treated with blood transfusion and lifelong parenteral vitamin B12 supplementation. After one month, her hallucinations improved and her pancytopenia was resolving.<br /><br />The case emphasizes the importance of keeping a broad differential diagnosis, especially when symptoms could be attributed to more common causes such as menstrual blood loss. It also highlights that timely diagnosis and treatment of pernicious anemia can reverse some neuropsychiatric symptoms and correct hematologic abnormalities.

Asset Subtitle

Aymen Baig

Meta Tag

Author List Aaron Owens MD, Aymen Baig, Cody Hu, Erin Kaser

Category Clinical Vignettes

Concept Vitamin B12 Deficiency

Concept Intrinsic Factor

Concept Intrinsic Factor Blocking Antibody

Concept Neuropsychiatric Symptom

Concept Parenteral Replacement Therapy

Distinguished Non-Finalist

Presenter Organization UTHSCSA - UT Health Science Center at San Antonio

Presenting Author Aymen Baig

Track Adult

Keywords

pernicious anemia

vitamin B12 deficiency

intrinsic factor antibody

autoimmune anemia

pancytopenia

neuropsychiatric symptoms

paranoid hallucinations

megaloblastic anemia

cobalamin deficiency

blood transfusion

Vitamin B12 Deficiency

Intrinsic Factor

Intrinsic Factor Blocking Antibody

Neuropsychiatric Symptom

Parenteral Replacement Therapy