Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Juvenile Polyposis Syndrome

System/ConcernEvaluationComment
Gastrointestinal Assess for abdominal pain, rectal bleeding, constipation, diarrhea, or change in stool size, shape, &/or color.At diagnosis
  • Complete blood count
  • Colonoscopy
  • Upper endoscopy
By age 15 yrs or earlier if symptomatic
Hematologic/
Cardiovascular
  • Evaluate for complications related to HHT.
  • Consider transthoracic echocardiogram.
  • At diagnosis in those w/SMAD4 pathogenic variant
  • Note: Recommended age at first transthoracic echocardiogram has not been determined.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of JPS to facilitate medical & personal decision making

HHT = hereditary hemorrhagic telangiectasia; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Juvenile Polyposis Syndrome

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