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{{Peutz-Jeghers syndrome}}
{{Peutz-Jeghers syndrome}}


{{CMG}}
{{CMG}}; {{AE}} {{HQ}}


==Overview==
==Overview==
 
Screening for [[cancerous]] lesions by [[small intestine]] [[radiography]], [[esophagogastroduodenoscopy]] ([[EGD]]), [[colonoscopy]], [[pancreatic]] [[ultrasound]], [[pelvic ultrasound]], [[mammography]], and [[Pap test|Papanicolaou test]] ([[Pap test]]) is recommended among patients with Peutz-Jeghers syndrome.
'''Peutz-Jeghers''', also known as '''Hereditary Intestinal Polyposis Syndrome''', is an [[autosomal dominant]] [[genetic disease]] characterized by the development of benign hamartomatous polyps in the gastrointestinal tract.


==Screening==
==Screening==
Screening includes [[Esophagogastroduodenoscopy|upper GI endoscopy]], [[enteroclysis]], and [[colonoscopy]] to check for the locations of the [[hamartomas]]. To check for cancerous lesions, [[endoscopic ultrasound]], testicular ultrasound and imaging studies of the liver and the pancreas are indicated because of the risk of pancreatic cancer as well as gallbladder polyps and cancer. These imaging studies may include [[ultrasonography]] as well as CT with pancreatic details or [[magnetic resonance cholangiopancreatography]] (MRCP).
Patients who are at risk of developing Peutz-Jeghers syndrome are screened for the locations of the [[hamartomas]] by:<ref name="SyngalBrand2015">{{cite journal|last1=Syngal|first1=Sapna|last2=Brand|first2=Randall E|last3=Church|first3=James M|last4=Giardiello|first4=Francis M|last5=Hampel|first5=Heather L|last6=Burt|first6=Randall W|title=ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes|journal=The American Journal of Gastroenterology|volume=110|issue=2|year=2015|pages=223–262|issn=0002-9270|doi=10.1038/ajg.2014.435}}</ref>
 
*[[Genetic testing]]
In addition, an annual physical examination that includes evaluation of the breasts, abdomen, pelvis, and testes should be done by a physician. An annual complete blood count to check for anemia should be done. If bleeding is found, removal of hemorrhagic or large polyps (>5 mm) by endoscopic polypectomy should be performed.
*[[Esophagogastroduodenoscopy|Upper GI endoscopy]]
 
*[[Enteroclysis]]
Some suggestions for surveillance for cancer include the following:
*[[Colonoscopy]]
Small intestine with small bowel radiography every 2 years,
Esophagogastroduodenoscopy and colonoscopy every 2 years,
Ultrasound of the pancreas yearly,
Ultrasound of the pelvis (women) and testes (men) yearly,
Mammography (women) at ages 25, 30, 35, and 38 years, then every 2 years until age 50 years, then annually, and
Papanicolaou (Pap) test every year.
 
Follow-up care should be supervised by a gastroenterologist familiar with Peutz-Jeghers syndrome. Genetic consultation and counseling as well as urological and gynecological consultations are required in the management of these patients.


== References ==
== References ==
{{reflist|2}}
{{reflist|2}}


{{Phakomatoses}}
{{WH}}
{{Digestive system neoplasia}}
{{WS}}
 
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[[pl:Zespół Peutza-Jeghersa]]
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Latest revision as of 16:43, 21 December 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]

Overview

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.

Screening

Patients who are at risk of developing Peutz-Jeghers syndrome are screened for the locations of the hamartomas by:[1]

References

  1. Syngal, Sapna; Brand, Randall E; Church, James M; Giardiello, Francis M; Hampel, Heather L; Burt, Randall W (2015). "ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes". The American Journal of Gastroenterology. 110 (2): 223–262. doi:10.1038/ajg.2014.435. ISSN 0002-9270.

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