SHM Converge Scientific Abstract ePoster Gallery-Loeys-Dietz Syndrome Presenting as Acute Retroperitoneal Bleed

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A 58-year-old woman with hypertension and obesity presented with severe acute abdominal and bilateral flank pain. She was initially found to have a markedly elevated D-dimer and was started on heparin for presumed pulmonary embolism, but she soon became hypotensive. CTA excluded PE and instead revealed a large retroperitoneal hematoma with active bleeding, requiring emergent interventional radiology embolization of a branch of the inferior pancreaticoduodenal artery.<br /><br />The angiographic appearance showed diffuse mesenteric and visceral arterial irregularities with ectatic, aneurysmal, and stenotic segments, raising concern for vasculitis. Rheumatologic workup showed elevated ESR and CRP but negative autoimmune serologies, and PET-CT did not demonstrate active vasculitis. Further imaging, including photon-counting CT, identified additional renal and hepatic artery abnormalities. The leading differential diagnoses included vascular Ehlers-Danlos syndrome, segmental arterial mediolysis, fibromuscular dysplasia, and Loeys-Dietz syndrome.<br /><br />Genetic testing ultimately identified a heterozygous pathogenic variant in TGFBR1, confirming Loeys-Dietz syndrome. The patient was referred to clinical genomics and vascular medicine, advised to undergo abdominal CTA every 6 months, and placed on aggressive blood pressure control. Her daughter was also found to carry the same mutation.<br /><br />This case highlights retroperitoneal hemorrhage from aneurysmal rupture as the initial presentation of Loeys-Dietz syndrome. The report emphasizes that Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder caused by mutations in the TGF-beta pathway, often presenting with arterial aneurysms, tortuosity, and dissections. Because it can mimic vasculitis, it should be considered in patients with unexplained arterial abnormalities or aneurysms, with diagnosis confirmed by genetic testing and management focused on surveillance, blood pressure control, and genetic counseling.

Asset Subtitle

Joelle N. Friesen

Meta Tag

Author List Bibek Saha, Joelle N. Friesen, Mary Finta

Category Clinical Vignettes

Concept Loeys-Dietz syndrome

Concept Vascular abnormality

Concept Aneurysm

Concept Aortic Dissection

Concept Genetic Testing

Distinguished Non-Finalist

Presenter Organization Mayo Clinic

Presenting Author Joelle N. Friesen

Track Adult

Keywords

Loeys-Dietz syndrome

retroperitoneal hemorrhage

aneurysmal rupture

TGFBR1 mutation

arterial aneurysms

vasculitis mimic

genetic testing

inferior pancreaticoduodenal artery

connective tissue disorder

vascular surveillance

Loeys-Dietz syndrome

Vascular abnormality

Aneurysm

Aortic Dissection

Genetic Testing