ABSTRACT
Familial juvenile polyposis (JP) is an uncommon genetic disorder that, if untreated, can lead to gastrointestinal cancer. To evaluate familial JP prevalence, phenotypic manifestations, causative mutations, treatment and compliance for diagnosis and follow-up in our registry. Since 1993 our familial JP patients were registered, followed-up before and/or after surgery and their families encouraged to have mutation analysis, endoscopic screening and treatment. Ten pedigrees were identified, all Jewish, but only one was Ashkenazi, six were Sepharadi and three were Oriental; the only mutation found was BMPR1A in two of six pedigrees examined. Of 139 first-degree relatives at risk for JP, 62 (45%) had JP or cancer; 56 (40.3%) were available for follow-up and 35 entered the registry. Of these, 71% reported rectal bleeding, 40% had <20 colonic polyps, 31% had 20-100 polyps; 2 had >100 gastric polyps. Cancer occurred in 22.9% (6 colonic, 2 gastric) before familial JP diagnosis or during follow-up elsewhere or non-compliance for follow-up; however, 1 gastric cancer developed during our treatment. In 46% the initial clinical-pathological diagnosis was incorrect. Compliance for evaluation and follow-up of pedigree members and individual familial JP patients was inadequate in 20% and 26%, respectively. Familial JP does not occur in the Israeli Ashkenazi Jewish population at the expected proportion; it is often misdiagnosed and is inadequately recognized in Israeli non-Jews. Mutations were identified in only a minority of pedigrees despite comprehensive screening. The inadequate compliance for screening and follow-up needs to be addressed by educating the public, health care workers and health insurances.
