Symptoms of Juvenile Polyposis Syndrome
Juvenile polyposis syndrome typically presents with rectal bleeding and anemia as the most common manifestations, often accompanied by abdominal pain, diarrhea, or protein-losing enteropathy. 1, 2
Primary Clinical Manifestations
Gastrointestinal Bleeding
- Rectal bleeding is the hallmark presenting symptom, occurring in the majority of patients and often leading to the initial clinical evaluation 3, 4
- Chronic blood loss results in iron deficiency anemia, which may be the first laboratory abnormality detected 3, 5
- Bleeding severity varies from occult blood loss to frank hematochezia depending on polyp burden and location 4
Abdominal Symptoms
- Abdominal pain occurs frequently and may be related to polyp size, inflammation, or mechanical complications 1, 4
- Intussusception can develop, particularly in children, when larger polyps serve as lead points for bowel telescoping 3, 4
- Diarrhea is a common symptom related to the inflammatory nature of juvenile polyps 1, 5
Systemic Manifestations
- Protein-losing enteropathy develops in some patients, leading to hypoalbuminemia and edema 1, 4
- Failure to thrive and poor weight gain may occur in children with significant polyp burden 4
- Weakness and fatigue are common secondary to chronic anemia 4
Age of Presentation
Most patients present in childhood or adolescence, though 15% of cases are diagnosed in adulthood 5. The typical age range at diagnosis is from infancy through the second decade of life, with polyps often first identified during evaluation for rectal bleeding 3, 5
Associated Extraintestinal Features
Vascular Anomalies
- Cardiac and central nervous system vascular anomalies occur in up to 30% of JPS patients and should be actively screened for 3, 6
- Patients with SMAD4 mutations have up to 76% risk of developing hereditary hemorrhagic telangiectasia (HHT), manifesting as arteriovenous malformations in the brain, lungs, liver, and retina 6
- Cutaneous telangiectasias may be visible on physical examination 7
Other Extraintestinal Findings
- Pigmented nevi and other cutaneous manifestations can occur 7
- Skeletal abnormalities have been reported in some patients 7
- Clubbing of the digits may develop in severe cases 4
Laboratory Abnormalities
When symptomatic, patients commonly demonstrate:
- Anemia (microcytic, hypochromic from chronic blood loss) 4
- Hypoalbuminemia (from protein-losing enteropathy) 4
- Hypokalemia (from chronic diarrhea) 4
- Skin test anergy may be present in severely affected patients 4
Critical Clinical Pitfalls
Solitary juvenile polyps in children are common and NOT associated with cancer risk or JPS, unlike syndromic juvenile polyposis which requires multiple polyps or family history for diagnosis 1. A single juvenile polyp found incidentally does not warrant extensive surveillance or genetic testing.
Patients with SMAD4 mutations may lack overt clinical symptoms of HHT but remain at risk of life-threatening asymptomatic arteriovenous malformations, necessitating cardiovascular screening even in the absence of visible telangiectasias 1.
Rare Infantile Form
A distinct and often fatal variant called juvenile polyposis of infancy presents with severe diarrhea, protein-losing enteropathy, massive bleeding, and rectal prolapse in the first year of life 5. This form has a much worse prognosis than the typical childhood/adolescent presentation.