Family study in Peutz-Jeghers syndrome

Abstract

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant hereditary disease characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyposis and an increased risk for the development of gastrointestinal and extra-gastrointestinal malignancies. Five generations of two PJS families (21-21 patients) were analyzed to summarize the clinical appearance of the disorder by interview, physical examination, laboratory and imaging studies. Phenotypic variability was observed in PJS both in and between families. In family "A" 13 people were diagnosed as being affected, all of them had melanin spots at birth and the first presenting clinical symptom was colicky abdominal pain (median age 12 years, range: 2-35) resulting in 14 laparotomies in 9 of the affected persons. 4/13 patients died from small-bowel ileus (median age 7 years, range 2-31), 2/13 from GI cancer (median age 54 years). In family "B" 7 patients were documented as being affected. The first features were also abdominal cramps (at age 22). The main causes of death were gynaecological (1/5) and GI malignancies (4/5) at advanced age, no one died in ileus. The results based on the analysis of the two families suggest that PJS is not a benign disease. It is difficult to predict the outcome of the disorder regarding the variable expression and incomplete penetrance. Therefore we emphasize the importance of checking the pedigree, finding out the leading symptom in the family; hemoccult test and routine lab studies should be carried out at every affected individual. If clinical signs and symptoms are present we recommend to perform the complete diagnostic protocol and a yearly follow-up by a gastroenterologist familiar with PJS focusing on the leading symptoms.