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


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


==Overview==
==Overview==
Symptoms of Peutz-Jeghers syndrome include [[rectal bleeding]], [[abdominal pain]], and weight loss.
The hallmark of Peutz-Jeghers syndrome is hamatomatous [[Polyp|polyps]]. A positive history of mucucutaneous [[hyperpigmentation]] and [[rectal bleeding]] is suggestive of Peutz-Jeghers syndrome. The most common symptoms of Peutz-Jeghers syndrome include [[abdominal pain]], [[fatigue]], and [[weight loss]].  
==History and Symptoms==
==History and Symptoms==
The risks associated with this syndrome include a strong tendency of developing cancer in multiple sites<ref>{{cite journal |author=Boardman LA, Thibodeau SN, Schaid DJ, ''et al'' |title=Increased risk for cancer in patients with the Peutz-Jeghers syndrome |journal=Ann. Intern. Med. |volume=128 |issue=11 |pages=896–9 |year=1998 |pmid=9634427 |doi=}}</ref>. While the harmartomatous polyps themselves do not have malignant potential, patients with the syndrome have an increased risk of developing carcinomas of the  pancreas, liver, lungs, breast, ovaries, uterus and testicles.
Individuals with Peutz-Jeghers syndrome may have positive history of:<ref name="KopacovaTacheci2009">{{cite journal|last1=Kopacova|first1=Marcela|last2=Tacheci|first2=Ilja|last3=Rejchrt|first3=Stanislav|last4=Bures|first4=Jan|title=Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach|journal=World Journal of Gastroenterology|volume=15|issue=43|year=2009|pages=5397|issn=1007-9327|doi=10.3748/wjg.15.5397}}</ref>
The average age of first diagnosis is 23, but the lesions can be identified at birth by an astute pediatrician.  Prior to puberty, the mucocutaneous lesions can be found on the palms and soles.  Often the first presentation is as a bowel obstruction from an [[intussusception]] which is a common cause of mortality; an intussusception is a telescoping of one loop of bowel into another segment.
* Peutz-Jeghers syndrome in family
Most of the data regarding this disorder are from selected family lines and thus the risks endured by those families regarding outcomes may not translate completely to the patient without a familial history.
* Mucucutaneous [[hyperpigmentation]] of the [[oral mucosa]]
 
* [[Rectal bleeding|Rectal bleeds]]
The three main criteria for diagnosis are:
* [[Abdominal pain]]
# [[Family history (medicine)|Family history]]
* [[Fatigue]]
# [[Mucocutaneous boundary|Mucocutaneous lesions]] causing patches of hyperpigmentation in the mouth and on the hands and feet.  The oral pigmentations are the first on the body to appear, and thus play an important part in early diagnosis.  Intraorally, they are most frequently seen on the gingiva, hard palate and inside of the cheek.  The [[mucosa]] of the lower lip is almost invariably involved as well.
Symptoms of Peutz-Jeghers syndrome include the following:<ref name="KopacovaTacheci2009">{{cite journal|last1=Kopacova|first1=Marcela|last2=Tacheci|first2=Ilja|last3=Rejchrt|first3=Stanislav|last4=Bures|first4=Jan|title=Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach|journal=World Journal of Gastroenterology|volume=15|issue=43|year=2009|pages=5397|issn=1007-9327|doi=10.3748/wjg.15.5397}}</ref><ref name="GiardielloTrimbath2006">{{cite journal|last1=Giardiello|first1=F|last2=Trimbath|first2=J|title=Peutz-Jeghers Syndrome and Management Recommendations|journal=Clinical Gastroenterology and Hepatology|volume=4|issue=4|year=2006|pages=408–415|issn=15423565|doi=10.1016/j.cgh.2005.11.005}}</ref><ref name="urlPeutz-Jeghers syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program">{{cite web |url=https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome#ref_8500 |title=Peutz-Jeghers syndrome &#124; Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |format= |work= |accessdate=}}</ref>
# [[Polyp (medicine)|Hamartomatous polyps]] in the gastrointestinal tract.  These are benign polyps with a extraordinarily low potential for malignancy.
*Mucocutaneous [[hyperpigmentation]] (mouth, hands, and feet)
Having 2 of the 3 listed criteria indicates a positive diagnosis.  The oral findings are consistent with other conditions, such as [[Addison's disease]] and [[McCune-Albright syndrome]], and these should be included in the [[differential diagnosis]].  Definitive diagnosis requires a histological sample of a polyp.
*[[Rectal bleeding]]
*[[Melena]]
*[[Rectal prolapse]]
*[[Abdominal pain]]
*[[Weight loss]]
*[[Gynecomastia]] in males
*Menstrual irregularities in females
*[[Hematemesis]]
*[[Fatigue]]
<br>
{|
! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Percentage of symptom occurrence in Peutz-Jeghers syndrome
|-
! style="background:#7d7d7d; color: #FFFFFF;" align="center" + |Symptoms
! style="background:#7d7d7d; color: #FFFFFF;" align="center" + |Percentage (%)
|-
| style="background:#DCDCDC;" align="center" + |Abnormal [[Hyperpigmentation|Pigmentation]]
| style="background:#F5F5F5;" align="center" + |80 to 90
|-
| style="background:#DCDCDC;" align="center" + |[[Gastrointestinal bleeding|GI Bleeding]]
| style="background:#F5F5F5;" align="center" + |30 to 79
|-
| style="background:#DCDCDC;" align="center" + |[[Abdominal pain|Abdominal Pain]]
| style="background:#F5F5F5;" align="center" + |5 to 29
|}


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


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Latest revision as of 16:50, 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

The hallmark of Peutz-Jeghers syndrome is hamatomatous polyps. A positive history of mucucutaneous hyperpigmentation and rectal bleeding is suggestive of Peutz-Jeghers syndrome. The most common symptoms of Peutz-Jeghers syndrome include abdominal pain, fatigue, and weight loss.

History and Symptoms

Individuals with Peutz-Jeghers syndrome may have positive history of:[1]

Symptoms of Peutz-Jeghers syndrome include the following:[1][2][3]


Percentage of symptom occurrence in Peutz-Jeghers syndrome
Symptoms Percentage (%)
Abnormal Pigmentation 80 to 90
GI Bleeding 30 to 79
Abdominal Pain 5 to 29

References

  1. ↑ 1.0 1.1 Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.
  2. ↑ Giardiello, F; Trimbath, J (2006). "Peutz-Jeghers Syndrome and Management Recommendations". Clinical Gastroenterology and Hepatology. 4 (4): 408–415. doi:10.1016/j.cgh.2005.11.005. ISSN 1542-3565.
  3. ↑ "Peutz-Jeghers syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".

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