Peutz-Jeghers syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]
Overview
Peutz-Jeghers, also known as Hereditary Intestinal Polyposis Syndrome, is an autosomal dominant genetic disorder caused by a mutation in the STK11 (LKB1) tumor suppressor gene. It is characterized by the appearance of multiple benign hamartomatous polyps in the gastrointestinal tract, which increase the risk of cancer in the gastrointestinal tract. Peutz–Jeghers syndrome ia also associated with hyperpigmented macules on the lips and oral mucosa (melanosis). The incidence of Peutz-Jeghers syndrome is approximately 0.03 to 4 per 100,000 individuals worldwide. If left untreated, patients with Peutz-Jeghers syndrome may progress to develop rectal bleeding, anemia, intussusception, bowel obstruction. Abdominal CT and MRI may help in the diagnosis of Peutz-Jeghers disease. Screening for intestinal and extraintestinal cancers is recommended for patients with Peutz-Jeghers disease. Surgery is the mainstay of treatment.
Historical Perspective
In 1998, STK11 (LKB1) mutations were first identified in the pathogenesis of Peutz-Jeghers syndrome. The syndrome is named after Jans Peutz (1886-1957), a Dutch physician, and Harold Jeghers (1904-1990), an American physician who had successively described the association between polyposis and the mucocutaneous macules.[1]
Pathophysiology
Peutz-Jeghers syndrome is transmitted in an autosomal dominant pattern.
Causes
Peutz-Jeghers syndrome is caused by a mutation in the STK11 (LKB1) tumor suppressor gene.[2]
Differentiating Peutz-Jeghers Syndrome from other Diseases
Peutz-Jeghers syndrome must be differentiated from other diseases that cause hamartomatous polyps and mucocutaneous pigmentation, such as Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and juvenile polyposis.
Epidemiology and Demographics
The incidence of Peutz-Jeghers syndrome is approximately 0.03 to 4 per 100,000 individuals worldwide.
Risk Factors
Common risk factors in the development of Peutz-Jeghers syndrome is the presence of family history of Peutz-Jeghers syndrome.
Screening
Screening for cancerous lesions by small intestine radiography, esophagogastroduodenoscopy (EGD), colonoscopy, pancreatic ultrasound, pelvic ultrasound, mammography, and Papanicolaou test (Pap test) is recommended among patients with Peutz-Jeghers syndrome.
Natural History, Complications and Prognosis
If left untreated, patients with Peutz-Jeghers syndrome may progress to develop rectal bleeding, anemia, intussusception, bowel obstruction, and abdominal pain. Common complications of Peutz-Jeghers syndrome include colon cancer and cachexia.[3] Prognosis is generally good if polypectomy was performed prior to the development of any dysplastic degeneration.
Diagnosis
Diagnostic Criteria
The diagnosis of Peutz-Jeghers syndrome is made when at least 2 of the following 3 diagnostic criteria are met: positive family history, mucocutaneous pigmentation, and presence of hamartomatous polyps.
History and Symptoms
Symptoms of Peutz-Jeghers syndrome include mucocutaneous hyperpigmentation, rectal bleeding, abdominal pain, and weight loss.
Physical Examination
Common physical examination findings of Peutz-Jeghers syndrome include mucocutaneous hyperpigmentation, abdominal tenderness due to intussusception, bowel obstruction, and pallor due to anemia.
Laboratory Findings
Some patients with Peutz-Jeghers syndrome may have positive stool guaiac test and anemia, which are usually suggestive of colon cancer.
Chest X Ray
Chest x-ray maybe helpful in the detection of lung cancer among patients with Peutz-Jeghers syndrome.
Abdominal CT
Abdominal CT scan may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on CT scan suggestive of Peutz-Jeghers syndrome include multiple polyps, intussusception, and bowel obstruction.
Abdominal MRI
Abdominal MRI scan may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on MRI suggestive of Peutz-Jeghers syndrome include multiple polyps along the distribution of the gastrointestinal tract.
Abdominal Ultrasound
Abdominal ultrasound may be helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on abdominal ultrasound suggestive of Peutz-Jeghers syndrome include multiple polyps and small bowel distention. Abdominal ultrasound is also used to exclude pregnancy in young females with Peutz-Jeghers syndrome presenting with abdominal pain.[4]
Other Imaging Studies
Barium x-ray maybe helpful in the diagnosis of Peutz-Jeghers syndrome. Findings on barium x-ray suggestive of Peutz-Jeghers syndrome include multiple polyps.[5]
Other Diagnostic Studies
Other diagnostic studies for Peutz-Jeghers syndrome include colonoscopy, which demonstrates multiple polyps in the colon, and capsule endoscopy, which demonstrates multiple polyps in the small intestine.[5]
Treatment
Medical Therapy
There is no medical treatment for Peutz-Jeghers syndrome. Depending on the associated cancer, radiotherapy or chemotherapy may be considered.
Surgery
Surgery is the mainstay of treatment for Peutz-Jeghers syndrome. Surgical options include polypectomy, laparotomy in case of intussusception, and laser cosmetic therapy may be considered for mucocutaneous pigmentation.[6] [7]
Primary Prevention
There are no primary preventive measures available for Peutz-Jeghers syndrome. However, if there is a positive family history, intrauterine genetic testing may help in early diagnosis.[7]
Secondary Prevention
Secondary prevention strategies to detect intestinal and extraintestinal malignancies in Peutz-Jeghers syndrome include enteroscopy and colonoscopy.[8]
References
- ↑ "Peutz-Jeghers syndrome-Radiopaedia".
- ↑ JReferences Jenne DE, et al. 'Peutz-Jeghers Syndrome Is Caused By Mutations In A Novel Serine Threonine Kinase. - Pubmed - NCBI'. Ncbi.nlm.nih.gov. N.p., 2015. Web. 9 Sept. 2015..
- ↑ Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007 Sep. 4(9):492-502.
- ↑ Walecki JK, Hales ED, Chung EB, Laster HD (1984). "Ultrasound contribution to diagnosis of Peutz-Jeghers syndrome". Pediatr Radiol. 14 (1): 62–4. PMID 6694866.
- ↑ 5.0 5.1 Peutz-Jeghers Syndrome https://www.nlm.nih.gov/medlineplus/ency/article/000244.htm
- ↑ Hofmann S, Barth TF, Kornmann M, Henne-Bruns D (2014). "Appendix carcinoid associated with the Peutz-Jeghers syndrome". Int J Surg Case Rep. 5 (12): 964–7. doi:10.1016/j.ijscr.2014.06.024. PMC 4276270. PMID 25460448.
- ↑ 7.0 7.1 Peutz-Jeghers syndrome https://online.epocrates.com/diseases/112842/Peutz-Jeghers-syndrome/Tx-Details
- ↑ Peutz-Jeghers syndrome https://online.epocrates.com/u/29441128/Peutz-Jeghers+syndrome