SHM Converge Scientific Abstract ePoster Gallery-Shunted to Psychiatry: Delayed Diagnosis of Hereditary Hemorrhagic Telangiectasia

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This case describes a 29-year-old man with acute encephalopathy, nonsensical speech, delusions, and possible gait ataxia who was initially thought to have a psychiatric or substance-induced disorder. His workup showed microcytic anemia with undetectable ferritin, normal toxicology aside from THC, and an unremarkable head CT and lumbar puncture. Because his presentation did not improve after several days on antipsychotics, further evaluation was pursued.<br /><br />Abdominal imaging revealed a large pulmonary arteriovenous malformation (PAVM) and small renal and liver infarcts. MRI brain then demonstrated multifocal late acute infarcts in the left superior cerebellum, right midbrain, and bilateral ventromedial thalami, explaining his global encephalopathy. These findings raised suspicion for hereditary hemorrhagic telangiectasia (HHT), especially given his iron deficiency anemia. After additional history was obtained, the patient reported recurrent epistaxis and his family confirmed a maternal history of HHT, meeting three diagnostic criteria: recurrent spontaneous nosebleeds, visceral AVM involvement, and a first-degree relative with HHT.<br /><br />The case highlights that multifocal embolic strokes can present as global cognitive and psychiatric symptoms, especially in young patients. It also emphasizes the importance of family history and avoiding cognitive bias toward psychiatric or substance-related diagnoses when evaluating unexplained encephalopathy. The patient underwent PAVM embolization and IV iron therapy, with cognitive improvement over the following four months and discharge to rehabilitation with follow-up at an HHT Center of Excellence.

Asset Subtitle

Katie E. Raffel

Meta Tag

Author List Erika Becerra-Ashby, Katie E. Raffel, Kelli Robertson

Category Clinical Vignettes

Concept Hereditary Hemorrhagic Telangiectasia

Concept Pulmonary Arteriovenous Malformation

Concept Epistaxis

Concept Family History

Concept Multifocal Embolic Stroke

Distinguished Non-Finalist

Presenter Organization University of Colorado Anschutz

Presenting Author Katie E. Raffel

Track Adult

Keywords

acute encephalopathy

multifocal embolic stroke

pulmonary arteriovenous malformation

hereditary hemorrhagic telangiectasia

iron deficiency anemia

delusions

gait ataxia

recurrent epistaxis

brain MRI infarcts

psychiatric misdiagnosis

Hereditary Hemorrhagic Telangiectasia

Pulmonary Arteriovenous Malformation

Epistaxis

Family History

Multifocal Embolic Stroke