A consultation with a clinical geneticist or genetic counselor should be offered. As there is no cure for Peutz Jeghers syndrome, treatment is mostly focused on surveillance and control of symptoms. After initial diagnosis, it is recommended that individuals older than 8 years or having symptoms undergo endoscopic and small bowel examination. The latter can be done with magnetic resonance imaging of the intestines (magnetic resonance enterography, MRE) or by swallowing a capsule that records internal images from inside the gastrointestinal tract (video capsule endoscopy, VCE). Gynecologic and breast examination are also recommended for women older than 18 years. Testicular examination is recommended for men.
Following initial workup after the diagnosis, endoscopy, colonoscopy, and small bowel examination should be performed every 2-3 years to detect polyps and potential tumors. An annual mammogram is recommended for women. Testicular ultrasound can be done every two years for men.
As PJS increases the risk of breast, uterine, and ovarian cancer, it is possible for affected women to undergo preventive mastectomy, hysterectomy or salpingo-oophorectomy (surgical removal of the breasts, uterus, and fallopian tubes and ovaries, respectively).
Polyps over 1 cm in size are removed with endoscopic techniques to avoid polyps-related complications such as bleeding and intussusception. These complications might require surgical interventions to be corrected. If a patient undergoes surgery, endoscopic removal of polyps (polypectomy) is performed at the same time as surgery to reduce the risk of recurrence of complications and surgery.
In cases where dark pigmented spots (melanocytic macules) have a greatly negative psychological impact on affected individuals, they can be partially removed with laser treatment.