AUTOSOMAL DOMINANT INHERITED DISEASE. Genetic counseling should also be provided.
HAVE 15-FOLDS INCREASED RISK OF DEVELOPING INTESTINAL CANCER, BOTH GI & EXTRA GI
" Forty-eight percent of patients with Peutz-Jeghers syndrome develop and die from cancer by age 57 years.
* - Peutz-Jeghers syndrome should be promptly diagnosed in patients as early as possible. Genetic counseling should also be provided.
Medical Care: Peutz-Jeghers syndrome should be promptly diagnosed in patients as early as possible. Genetic counseling should also be provided. Many of the gastrointestinal lesions will start developing early in life even if the syndrome is clinically apparent in the second and third decades of life. Proper screening for both intestinal cancers and extraintestinal cancers should be implemented.
" Annual physical examination that includes evaluation of the breasts, abdomen, pelvis, and testes
" Annual complete blood count
" Removal of hemorrhagic or large polyps (>5 mm) by endoscopic polypectomy
" Some suggestions for surveillance for cancer include the following:
o Small intestine with small bowel radiography every 2 years
o Esophagogastroduodenoscopy and colonoscopy every 2 years
o Ultrasound of the pancreas yearly
o Ultrasound of the pelvis (women) and testes (men) yearly
o Mammography (women) at ages 25, 30, 35, and 38 years, then every 2 years until age 50 years, then annually
o Papanicolaou (Pap) test every year
Surgical Care: Patients with Peutz-Jeghers syndrome usually undergo numerous surgeries during their lives. These surgeries include laparotomies and laparoscopies for both gastrointestinal problems and extraintestinal problems.
" Push enteroscopy and interoperative enteroscopy with polypectomy are used to remove larger polyps and may defer the need for repeated small bowel resections.
" Laparotomy and resection, as indicated, for small intestinal intussusception, obstruction, or persistent intestinal bleeding may be necessary.
" Surgical treatment of extraintestinal cancers detected by surveillance and diagnosis is required.
Activity: No activity restraints should be made.
Complications:
" In young patients, small intestinal obstruction and intussusception are the main complications of Peutz-Jeghers syndrome. This is due to the small intestinal location of the polyps.
" Cancer is the main consequence as patients with Peutz-Jeghers syndrome age (93% cumulative risk by age 64 y). The major sites of cancer occurrence in order of RR over the general population are small intestine (RR 520), stomach (RR 213), pancreas (RR 132), colon (RR 84), esophagus (RR 57), ovary (RR 27), lung (RR 17), uterus (RR 16), and breast (RR 15.2). In addition, other reproductive site cancers have been associated with Peutz-Jeghers syndrome, including adenoma malignum of the cervix, Sertoli cell tumors, and sex cord tumors with annular tubules.
" Adhesions and intestinal obstruction or short bowel syndrome from repeated abdominal surgeries: This can be limited with use of endoscopic methods for intestinal polyp resection, such as intraoperative enteroscopy and push enteroscopy.
Prognosis:
" Forty-eight percent of patients with Peutz-Jeghers syndrome develop and die from cancer by age 57 years. Others potentially may have a normal life span.
Patient Education:
" The patient with Peutz-Jeghers syndrome should be educated on the potential symptoms of intestinal obstruction and instructed on the need for cancer surveillance.