Table 5.

Treatment of Manifestations in Individuals with Juvenile Polyposis Syndrome

Manifestation/
Concern
TreatmentConsiderations/Other
GI polyps Colonoscopy w/endoscopic polypectomyTo ↓ morbidity by ↓ risk for cancer, bleeding, or intestinal obstruction
  • Partial or total gastrectomy
  • Partial or total colectomy (subtotal colectomy w/ileorectal anastomosis or proctocolectomy w/ileoanal pouch) 1
May be necessary in those w/many polyps to alleviate symptoms &/or ↓ cancer risk
Anemia
  • Iron replacement (oral or parenteral if needed)
  • Red blood cell transfusion as needed
May be improved by polypectomy or surgery (gastrectomy/colectomy)
GI bleeding See Hereditary Hemorrhagic Telangiectasia, Management.In those w/SMAD4 pathogenic variant
Epistaxis
AVMs/
Aortopathy/
Valvular disease
Treatment per cardiologist & cardiothoracic surgeon

AVM = arteriovenous malformation; GI = gastrointestinal

1.

The preferred procedure is debated. The number of colonic or rectal polyps does not appear to correlate with the need for proctectomy [Oncel et al 2005].

From: Juvenile Polyposis Syndrome

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