SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history.
Adult
Age of Onset
Anemia, Iron-Deficiency
/ blood
Colon
/ diagnostic imaging
Endoscopy, Gastrointestinal
Gastrectomy
Gastric Mucosa
/ diagnostic imaging
Gastritis
/ diagnosis
Helicobacter heilmannii
/ isolation & purification
Hematinics
/ administration & dosage
Humans
Hyperplasia
Intestinal Mucosa
/ diagnostic imaging
Intestinal Polyposis
/ complications
Intestinal Polyps
/ diagnosis
Male
Mutation
Neoplastic Syndromes, Hereditary
/ complications
Severity of Illness Index
Smad4 Protein
/ genetics
Telangiectasia, Hereditary Hemorrhagic
/ complications
Tomography, X-Ray Computed
endoscopy
gastrointestinal surgery
genetics
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
22 Dec 2020
22 Dec 2020
Historique:
entrez:
29
12
2020
pubmed:
30
12
2020
medline:
23
2
2021
Statut:
epublish
Résumé
Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.
Identifiants
pubmed: 33370972
pii: 13/12/e236855
doi: 10.1136/bcr-2020-236855
pmc: PMC7757541
pii:
doi:
Substances chimiques
Hematinics
0
SMAD4 protein, human
0
Smad4 Protein
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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