Some patients with Juvenile Polyposis Syndrome (JPS) will also have Hereditary Hemorrhagic Telangiectasia (HHT).
Affected gene: SMAD4 (at 18q21.2)
Typically there is a family history with an autosomal dominant pattern of inheritance.
Clinical features of juvenile polyposis syndrome:
(1) upper GI polyps, especially stomach
(2) increased risk of gastric cancer
(3) presence of juvenile polyps elsewhere in the GI tract
Clinical features of hereditary hemorrhagic telangiectasia syndrome:
(1) epistaxis
(2) telangiectasia
(3) arteriovenous malformations (AVM), especially pulmonary
(4) digital clubbing
(5) anemia
Additional findings:
(1) exercise intolerance
(2) migraine headaches
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Specialty: Gastroenterology
