| Theme |
Lynch Syndrome and Hereditary Polyposis Syndromes |
| Title |
Juvenile Polyposis Syndrome |
| Author |
Keisuke Kawasaki |
Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University |
| Author |
Yosuke Toya |
Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University |
| Author |
Makoto Eizuka |
Department of Diagnostic Pathology, Iwate Medical University |
| Author |
Shunichi Yanai |
Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University |
| Author |
Risaburo Akasaka |
Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University |
| Author |
Tomofumi Oizumi |
Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University |
| Author |
Noriyuki Uesugi |
Department of Diagnostic Pathology, Iwate Medical University |
| Author |
Shotaro Nakamura |
Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University |
| Author |
Tamotsu Sugai |
Department of Diagnostic Pathology, Iwate Medical University |
| Author |
Takayuki Matsumoto |
Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University |
| [ Summary ] |
Juvenile polyposis syndrome (JPS) is an autosomal dominant inherited condition in which multiple juvenile polyps occur throughout the gastrointestinal tract. Approximately 60 % of patients diagnosed with JPS present with mutations of the SMAD4 or BMPR1A genes. The number of polyps identified in patients with JPS ranges from several to 300. Rectal bleeding with anemia is the most common presenting symptom, followed by abdominal pain, diarrhea, and intussusception. Endoscopic or surgical resection is needed in patients with the aforementioned symptoms. Additionally, surveillance endoscopy is necessary because carriers of mutations causing JPS are at a high risk for the development of gastrointestinal cancer. |