Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Juvenile Polyposis Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
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 ¹	To inform affected persons & their families re nature, MOI, & implications of JPS to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

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 ¹

To inform affected persons & their families re nature, MOI, & implications of JPS to facilitate medical & personal decision making

From: Juvenile Polyposis Syndrome

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