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Verifying genetic diagnoses: Hereditary hemorrhagic telangiectasia - juvenile polyposis syndrome (HHT-JPS) or familial adenomatous polyposis (FAP)?

Clinical and investigative medicine. Medecine clinique et experimentale - 1 Sept 2026

Wagner Mitchell, Beke Alexander, Wilton-Clark Harry, Zepeda-Gomez Sergio, Vethanayagam Dilini

Abstract excerpt

A 26-year-old woman was diagnosed with hereditary hemorrhagic telangiectasia - juvenile polyposis syndrome (HHT-JPS) after an incidental finding of a pulmonary arteriovenous malformation. Molecular genetic testing confirmed the presence of a pathogenic SMAD4 variant, later found to be present in several other family members who were all previously labelled as having familial adenomatous polyposis. This short...

Read the complete abstract on PubMed

Topics

Humans
Telangiectasia, Hereditary Hemorrhagic
Adenomatous Polyposis Coli
Female
Smad4 Protein

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Neoplastic Syndromes, Hereditary

Adult

Mutation

Genetic Testing

Intestinal Polyposis

Source

Identifiers

PMID: 42644718
DOI: 10.3138/CIM-2026-0004

Genes

FAP
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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