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{{Infobox_Disease |
{{Peutz-Jeghers syndrome}}
  Name          = {{PAGENAME}} |
__NOTOC__
  Image          = Multiple polyps and at large mass at the hepatic flexure.jpg|
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
  Caption        = |
  DiseasesDB    = 9905 |
  ICD10          = {{ICD10|Q|85|8|q|80}} |
  ICD9          = {{ICD9|759.6}} |
  ICDO          = |
  OMIM          = 175200 |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = D010580 |
}}
{{SI}}


'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
{{CMG}}; {{AE}} {{HQ}}
 
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{{CMG}}
{{SK}} Hereditary intestinal polyposis syndrome, PJS, polyps and spots syndrome, polyposis, hamartomatous intestinal polyposis.


==[[Peutz-Jeghers syndrome overview|Overview]]==
==[[Peutz-Jeghers syndrome overview|Overview]]==


==Diagnosis==
==[[Peutz-Jeghers syndrome historical perspective|Historical Perspective]]==
 
==[[Peutz-Jeghers syndrome classification|Classification]]==
 
==[[Peutz-Jeghers syndrome pathophysiology|Pathophysiology]]==


==[[Peutz-Jeghers syndrome causes|Causes of Peutz-Jeghers syndrome]]==
==[[Peutz-Jeghers syndrome differential diagnosis|Differentiating Peutz-Jeghers syndrome from other Diseases]]==
==Genetics==
In 1998, a gene was found to be associated with the mutation.  On [[Chromosome 19 (human)|chromosome 19]], the gene known as ''[[STK11]]'' (''LKB1'')<ref>{{cite web |url=http://us.expasy.org/cgi-bin/niceprot.pl?Q15831 |title=UniProtKB/Swiss-Prot entry Q15831 [STK11_HUMAN] Serine/threonine-protein kinase 11 |accessdate=2007-07-21 |format= |work=}}</ref> is a possible [[tumor suppressor gene]]. It is inherited in an ''Autosomal Dominant'' pattern (see [[Mendelian inheritance]]) which means that anyone who has PJS has a 50% chance of passing it onto their children.


==[[Peutz-Jeghers syndrome history and symptoms|History & Symptoms]]==
==[[Peutz-Jeghers syndrome epidemiology and demographics|Epidemiology and Demographics]]==


==[[Peutz-Jeghers syndrome natural history, complications, and prognosis|Natural history, Complications, and Prognosis]]==
==[[Peutz-Jeghers syndrome risk factors|Risk Factors]]==
Almost half of Peutz-Jeghers patients die from cancer by age 57 years, and the cumulative risk of developing a form of cancer associated with Peutz-Jeghers syndrome between ages 15-64 is 93%.<ref>{{cite web |url=http://www.emedicine.com/med/topic1807.htm |title=eMedicine - Peutz-Jeghers Syndrome : Article by Andrea Duchini, MD |accessdate=2007-07-21 |format= |work=}}</ref>


==[[Peutz-Jeghers syndrome screening|Screening]]==
==[[Peutz-Jeghers syndrome 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).


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.
==[[Peutz-Jeghers syndrome natural history, complications, and prognosis|Natural History, Complications and Prognosis]]==


Some suggestions for surveillance for cancer include the following:
==Diagnosis==
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.
[[Peutz-Jeghers syndrome diagnostic study of choice|Diagnostic Study of Choice]] | [[Peutz-Jeghers syndrome history and symptoms|History and Symptoms]] | [[ Peutz-Jeghers syndrome physical examination|Physical Examination]] | [[Peutz-Jeghers syndrome laboratory tests|Laboratory Findings]] | [[Peutz-Jeghers syndrome CT|CT]] | [[Peutz-Jeghers syndrome MRI|MRI]] | [[Peutz-Jeghers syndrome echocardiography or ultrasound|Ultrasound]] | [[Peutz-Jeghers syndrome other imaging findings|Other Imaging Findings]] | [[Peutz-Jeghers syndrome other diagnostic studies|Other Diagnostic Studies]]


== References ==
==Treatment==
<references />
[[Peutz-Jeghers syndrome medical therapy|Medical Therapy]] | [[Peutz-Jeghers syndrome surgery |Surgery]] | [[Peutz-Jeghers syndrome primary prevention|Primary Prevention]] | [[Peutz-Jeghers syndrome secondary prevention|Secondary Prevention]] | [[Peutz-Jeghers syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] |  [[Peutz-Jeghers syndrome future or investigational therapies|Future or Investigational Therapies]]


{{Phakomatoses}}
==Case Studies==
{{Digestive system neoplasia}}
 
[[Category:Dental disorders]]
[[Category:Gastroenterology]]
[[Category:Genetic disorders]]
[[Category:Oncology]]
[[Category:Syndromes]]


[[Peutz-Jeghers syndrome case study one|Case #1]]


[[de:Peutz-Jeghers-Syndrom]]
[[fr:Syndrome de Peutz-Jeghers]]
[[it:Sindrome di Peutz-Jeghers]]
[[nl:Syndroom van Peutz-Jeghers]]
[[pl:Zespół Peutza-Jeghersa]]
[[tr:Peutz-Jeghers sendromu]]


{{WH}}
{{WH}}
{{WS}}
{{WS}}
[[Category:Gastroenterology]]
[[Category:Surgery]]
[[Category:Oncology]]
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Up-To-Date]]

Latest revision as of 13:10, 22 December 2017

Peutz-Jeghers syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Peutz-Jeghers syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural history, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

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CT

MRI

Ultrasound

Other Imaging Findings

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Treatment

Medical Therapy

Surgery

Primary Prevention

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Future or Investigational Therapies

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Case #1

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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]

https://https://https://www.youtube.com/watch?v=BeES_ywLAQs%7C350}}

Synonyms and keywords: Hereditary intestinal polyposis syndrome, PJS, polyps and spots syndrome, polyposis, hamartomatous intestinal polyposis.

Overview

Historical Perspective

Classification

Pathophysiology

Differentiating Peutz-Jeghers syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice | History and Symptoms | Physical Examination | Laboratory Findings | CT | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1


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