SMAD4-Associated HHT
Cite this case
[...]. SMAD4-Associated HHT. CTICases. Published June 19, 2025. https://str-case-explorer.pages.dev/c/x7yj5
Imaging findings
A young patient with pulmonary AVMs, hepatic focal nodular hyperplasia (FNH), and colon adenocarcinoma.
Key takeaways
Identify the genetic mutation in HHT (e.g., SMAD4). These patients are at increased risk for extra-pulmonary manifestations, including liver FNH and early-onset colon cancer.
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