DIAGNOSIS AND TREATMENT OF HAMARTOMATOUS POLYPOSIS SYNDROMES

Abstract

The hamartomatous polyposis syndromes are a group of inherited disorders that include Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome, Cowden syndrome, and tuberous sclerosis complex (TSC). PJS, Cowden syndrome, and TSC are characterized by phenotypic manifestations, which may be a clue to their diagnosis. The most frequent complications of PJS are intussusception and chronic anemia. Earlier entire small bowel examination with capsule endoscopy and balloon-assisted enteroscopy enabling accurate diagnosis and subsequent endoscopic polyp removal obviates the need for unnecessary multiple surgeries. Patients with a hamartomatous polyposis syndrome are at an elevated risk for gastrointestinal and extragastrointestinal malignancies; therefore periodic surveillance is needed. Here, we describe the clinical features, diagnostics, and therapeutics of hamartomatous polyposis syndromes.