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, and in severe cases, intussusception or protein-losing enteropathy. 1, 2
Primary Gastrointestinal Symptoms
Rectal bleeding is the hallmark presenting symptom, occurring in the majority of patients and frequently leading to chronic anemia from gastrointestinal blood loss. 3, 4 This bleeding results from the friable nature of juvenile polyps throughout the colorectum.
Abdominal pain represents another cardinal feature, which can range from chronic discomfort to acute presentations requiring urgent evaluation. 3, 1 The pain may signal complications such as intussusception, which occurs when polyps serve as lead points for bowel telescoping.
Diarrhea is commonly reported and can be severe enough to cause significant morbidity. 1, 2, 4 In the most severe cases, particularly in juvenile polyposis of infancy, diarrhea accompanies protein-losing enteropathy with profound hypoalbuminemia. 5
Life-Threatening Complications
Intussusception represents a critical complication that requires immediate recognition and management. 3 Parents and clinicians must maintain high suspicion for this complication when acute abdominal pain develops, as it can lead to bowel obstruction and infarction if not promptly addressed.
Protein-losing enteropathy occurs in severe cases, particularly in the infantile form of the disease, manifesting as hypoalbuminemia, edema, and failure to thrive. 4, 5 This complication reflects extensive mucosal involvement and can be life-threatening.
Laboratory and Physical Findings
Anemia is nearly universal due to chronic gastrointestinal bleeding, often presenting as iron deficiency anemia requiring evaluation in children and young adults. 3, 4, 6
Hypoalbuminemia and hypokalemia occur in patients with protein-losing enteropathy and severe diarrhea. 4 These electrolyte and protein abnormalities can lead to weakness, failure to thrive, and immunologic dysfunction including skin test anergy. 4
Rectal prolapse may occur as a presenting feature, particularly in younger children with numerous rectal polyps. 4, 5
Clubbing of the digits has been reported in some patients with severe disease. 4
Age-Related Presentation Patterns
The typical presentation occurs in childhood or adolescence, with most patients diagnosed in the first or second decade of life. 6 However, only 15% of patients present as adults, making pediatric recognition crucial. 6
The infantile form (juvenile polyposis of infancy) represents the most severe variant, typically presenting within the first two years of life with diarrhea, inanition, exudative enteropathy, bleeding, and rectal prolapse—this form is often fatal without aggressive intervention. 6, 5
Associated Extraintestinal Manifestations
Vascular anomalies occur in up to 30% of JPS patients, including cardiac and central nervous system abnormalities. 3, 1 Patients with SMAD4 mutations specifically require cardiovascular surveillance for arteriovenous malformations associated with hereditary hemorrhagic telangiectasia-JPS overlap syndrome. 1, 2
Cutaneous manifestations may include telangiectasias and pigmented nevi in some patients. 7
Critical Clinical Distinction
Solitary juvenile polyps in children are common and NOT associated with cancer risk or systemic symptoms, unlike syndromic juvenile polyposis which requires the presence of five or more colorectal juvenile polyps, extracolonic juvenile polyps, or any number with positive family history. 3, 1 This distinction is essential to avoid unnecessary alarm in children with isolated polyps discovered during evaluation for minor rectal bleeding.