遗传疾病和遗传报告杂志

Peutz-Jeghers Syndrome: Current State-of-the-Art.

Cipta Mahendra

Peutz-Jeghers Syndrome (PJS) is rare hereditary disease. Mucocutaneous pigmentations and gastrointestinal polyps are the most prominent features. To date, the only approved treatment for this syndrome is to eliminate the polyps found during the extensive inspection of the patient’s body by snare endoscopy and/or invasive abdominal laparotomy surgery. Patients with PJS have a high lifetime risk of various cancers and warrants regular surveillance to screen for possible early signs of malignancies. These requirements may render the patients susceptible to acquire depression and desperation due to the chronic, burdensome nature this disease entails. Due to this vulnerability, these patients need to be well-informed and guided by the treating physicians to help in coping with their PJS status. More research is needed to help alleviating or even curing the PJS disease to ease the patient’s burden.