Peutz-Jeghers syndrome differential diagnosis: Difference between revisions

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__NOTOC__
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{{Peutz-Jeghers syndrome}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Peutz-Jeghers_syndrome]]
{{CMG}} {{AE}} {{MJK}}
{{CMG}}; {{AE}} {{HQ}}
==Overview==
==Overview==
Peutz-Jeghers syndrome must be differentiated from other diseases that cause [[hamartomatous]] [[polyps]] and mucocutaneous pigmentation, such as [[Cowden syndrome]], [[Bannayan–Riley–Ruvalcaba syndrome]], [[juvenile polyposis]], [[Addison's disease]], and [[McCune-Albright syndrome]].
Peutz-Jeghers syndrome must be differentiated from other diseases that cause [[hamartomatous]] [[polyps]] and [[Mucocutaneous zone|mucocutaneous]] pigmentation, such as [[Cowden syndrome]], [[Bannayan–Riley–Ruvalcaba syndrome]], [[juvenile polyposis]], and [[McCune-Albright syndrome]].


==Differentiating Peutz-Jeghers Syndrome from other Diseases==
==Differentiating Peutz-Jeghers Syndrome from other Diseases==
Peutz-Jeghers syndrome must be differentiated from the following diseases:<ref>{{Pathology of Peutz-Jeghers syndrome. Dr Amir Rezaee and Dr Alexandra Stanislavsky et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/peutz-jeghers-syndrome-2}}</ref>
Peutz-Jeghers syndrome must be differentiated from the following diseases:<ref name="BuckHarned1992">{{cite journal|last1=Buck|first1=J L|last2=Harned|first2=R K|last3=Lichtenstein|first3=J E|last4=Sobin|first4=L H|title=Peutz-Jeghers syndrome.|journal=RadioGraphics|volume=12|issue=2|year=1992|pages=365–378|issn=0271-5333|doi=10.1148/radiographics.12.2.1561426}}</ref><ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1266/#pjs.Diagnosis |title=Peutz-Jeghers Syndrome - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref>
*[[Cowden syndrome]]
*[[Cowden syndrome]]
*Cronkhite-Canada syndrome
*Cronkhite-Canada syndrome
*[[Bannayan–Riley–Ruvalcaba syndrome]]
*[[Bannayan–Riley–Ruvalcaba syndrome]]
*[[Juvenile polyposis]]
*[[Juvenile polyposis]]
*[[Addison's disease]]
*[[McCune-Albright syndrome]]
*[[McCune-Albright syndrome]]
Differential diagnosis according to polys:
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! rowspan="2" |Diseases
! colspan="4" |History and Symptoms
! colspan="3" |Physical Examination
! colspan="4" |Laboratory Findings
! rowspan="2" |Other Findings
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
!Abdominal Pain
!Rectal Bleeding
!Hyperpigmentation
!Fatigue
!Abdominal Tenderness
!Hyperpigmentation
!Anemia
!Gene(s)
!Sertoli Cell Tumors
!Gastrointestinal Tumors
!Cancers
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Juvenile Polyposis Syndrome'''
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |SMAD4
[[BMPR1A]]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+ 
[[Hamartoma]]+++
| style="background: #F5F5F5; padding: 5px;" |[[Colon (anatomy)|Colon]]
| style="background: #F5F5F5; padding: 5px;" |
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Cowden syndrome|'''Cowden Syndrome''']]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[Axillary]]+
[[Inguinal region|Inguinal]]+
[[Facial]]+
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[Axillary]]+
[[Inguinal region|Inguinal]]+
[[Facial]]+
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[PTEN (gene)|PTEN]]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+ 
[[Hamartoma]]+++
| style="background: #F5F5F5; padding: 5px;" |[[Breast]], [[Thyroid]], [[Endometrium]]
| style="background: #F5F5F5; padding: 5px;" |[[Trichilemmoma]], [[skin]] [[hamartoma]], [[Hyperplasia|hyperplastic]] [[Polyp|polyps]], [[macrocephaly]], [[breast]] [[fibrosis]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[Facial]]+
[[Mucous membrane|Mucosal]]+
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[Facial]]+
[[Mucous membrane|Mucosal]]+
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[PRKAR1A]]
| style="background: #F5F5F5; padding: 5px;" | ++
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |[[Thyroid]]
| style="background: #F5F5F5; padding: 5px;" |[[Myxoma|Myxomas]] of [[skin]] and [[heart]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Familial adenomatous polyposis|'''Familial Adenomatous Polyposis''']]
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |[[APC]]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+++
| style="background: #F5F5F5; padding: 5px;" |[[Colon (anatomy)|Colon]], [[brain]]
| style="background: #F5F5F5; padding: 5px;" |[[Desmoid tumor|Desmoid tumors]], [[Osteoma|osteomas]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hereditary nonpolyposis colorectal cancer|'''Hereditary Non-Polyposis Colon Cancer''']]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |[[MLH1]]
[[MSH2]]
[[MSH3]]
[[MSH6]]
[[PMS1]]
[[PMS2]]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+
| style="background: #F5F5F5; padding: 5px;" |[[Endometrium|Endometrial]], [[Stomach|gastric]], [[renal pelvis]], [[ureter]], and [[Ovary|ovarian]]
| style="background: #F5F5F5; padding: 5px;" |[[Sebaceous gland|Sebaceous]] [[adenoma]]
|}
<small><small>
{| align="center"
|+'''Differential of gastrointestinal bleeding'''
|-
|
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Disease
| colspan="13" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |'''Clinical manifestations'''
! colspan="2" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Diagnosis
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Comments
|-
| colspan="9" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |'''Symptoms'''
! colspan="4" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" | Signs
|-
! style="background:#4479BA; color: #FFFFFF;" align="center" |Abdominal Pain
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" | Fever
! style="background:#4479BA; color: #FFFFFF;" align="center" |Rigors and chills
! style="background:#4479BA; color: #FFFFFF;" align="center" |Nausea or vomiting
! style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice
! style="background:#4479BA; color: #FFFFFF;" align="center" |Constipation
! style="background:#4479BA; color: #FFFFFF;" align="center" |Diarrhea
! style="background:#4479BA; color: #FFFFFF;" align="center" |Weight loss
! style="background:#4479BA; color: #FFFFFF;" align="center" |GI bleeding
! style="background:#4479BA; color: #FFFFFF;" align="center" |Hypo-
tension
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" | Guarding
! style="background:#4479BA; color: #FFFFFF;" align="center" |Rebound Tenderness
! style="background:#4479BA; color: #FFFFFF;" align="center" |Bowel sounds
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" | Lab Findings
! style="background:#4479BA; color: #FFFFFF;" align="center" |Imaging
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Peutz-Jeghers syndrome
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Depends on location of polyps it maybe present 
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |
* Rectal bleeding may be present due to polyp
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |
* Hamartomatous polyps present on endoscopy
* Iron deficiency anemia on CBC
* STK11 mutation
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |
* Intra-operative enteroscopy (laparatomy with endoscopy
* Double balloon eneteroscopy
* Colonoscopy
* Barium Swallow
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |
* Can lead to colon cancer, breast cancer, ovarian cancer, cervical cancer, and testicular cancer
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" | [[Peptic Ulcer Disease|Peptic ulcer disease]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | <nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | <nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |
* Gastric ulcer- [[melena]] and [[hematemesis]]
* Duodenal ulcer- [[melena]] and [[hematochezia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive if perforated
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive if perforated
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive if perforated
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Ascitic fluid
** [[LDH]] > serum [[LDH]]
** Glucose < 50mg/dl
** Total protein > 1g/dl
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Air under [[diaphragm]] in upright [[CXR]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Upper GI [[endoscopy]] for diagnosis
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Gastritis|Gastritis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Epigastric]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | <nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in chronic gastritis
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[H.pylori infection diagnostic tests]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Endoscopy]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[H.pylori gastritis guideline recommendation]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Gastrointestinal perforation]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |−
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |−
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hyperactive/hypoactive
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* WBC> 10,000
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Air under [[diaphragm]] in upright [[CXR]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Hamman's sign]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Diverticulitis|Acute diverticulitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |LLQ
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |−
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in perforated diverticulitis
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hypoactive
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Leukocytosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* CT scan 
* Ultrasound
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* History of [[constipation]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Inflammatory bowel disease]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Normal or hyperactive
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Anti-neutrophil cytoplasmic antibody]] ([[P-ANCA]]) in [[Ulcerative colitis]]
* [[Anti saccharomyces cerevisiae antibodies]] (ASCA) in [[Crohn's disease]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[String sign]] on [[abdominal x-ray]] in [[Crohn's disease]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
Extra intestinal findings:
* [[Uveitis]]
* [[Arthritis]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Infective colitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in fulminant colitis
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hyperactive
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Stool culture]] and studies
* Shiga toxin in bloody diarrhea
* [[PCR]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |CT scan
* Bowel wall thickening
* Edema
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |Colon carcinoma
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Diffuse/localized
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Normal or hyperactive if obstruction present
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* CBC
* Carcinoembryonic antigen (CEA)
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Colonoscopy
* Flexible sigmoidoscopy
* Barium enema
* CT colonography 
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* PILLCAM 2: A colon capsule for CRC screening may be used in patients with an incomplete colonoscopy who lacks obstruction
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Budd-Chiari syndrome|Budd-Chiari syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[RUQ]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in liver failure leading to varices
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
*Elevated [[Aspartate aminotransferase|serum aspartate aminotransferase]] and [[alanine aminotransferase]] levels may be more than five times the upper limit of the normal range.
*Elevated serum [[alkaline phosphatase]] and [[Bilirubin|bilirubin levels]], decreased [[Albumin|serum albumin level]].
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
|-
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Findings on [[CT scan]] suggestive of Budd-Chiari syndrome include:
*Early enhancement of the [[caudate lobe]] and [[central liver]] around the [[Inferior vena cavae|inferior vena cava]]
*Delayed enhancement of the peripheral [[liver]] with accompanying central low density (flip-flop appearance)
*Peripheral zones of the [[liver]] show reversed [[portal]] [[venous]] [[blood flow]]
*In the [[chronic]] phase, there is [[caudate lobe]] enlargement and [[atrophy]] of the [[Liver|peripheral liver]] in affected areas
|}
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |[[Ascitic tap|Ascitic fluid examination]] shows:
*[[Total protein]] more than 2.5 g per deciliter
*[[White blood cells]] are usually less than 500/μL.
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hemochromatosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |RUQ
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive in cirrhotic patients
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* >60% TS
* >240 μg/L SF
* Raised LFT <br>Hyperglycemia
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Ultrasound shows evidence of cirrhosis
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Extra intestinal findings:
* Hyperpigmentation
* Diabetes mellitus
* Arthralgia
* Impotence in males
* Cardiomyopathy
* Atherosclerosis
* Hypopituitarism
* Hypothyroidism
* Extrahepatic cancer
* Prone to specific infections
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Cirrhosis|Cirrhosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[RUQ]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Hypoalbuminemia]]
* Prolonged PT
* Abnormal LFTs
* [[Hyponatremia]]
* [[Thrombocytopenia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |US
* Nodular, shrunken liver
* [[Ascites]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Stigmata of liver disease
* Cruveilhier- Baumgarten murmur
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Mesenteric ischemia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Periumbilical
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Positive if bowel becomes gangrenous
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive if bowel becomes gangrenous
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Positive if bowel becomes gangrenous
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hyperactive to absent
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Leukocytosis]] and [[lactic acidosis]]
* [[Amylase]] levels
* [[D-dimer]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |CT angiography
* SMA or SMV thrombosis
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Also known as abdominal angina  that worsens with eating
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Ischemic colitis|Acute ischemic colitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Diffuse
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |Hyperactive then absent
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Leukocytosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |[[Abdominal x-ray]]
* Distension and pneumatosis
CT scan
* Double halo appearance, thumbprinting
* Thickening of bowel
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* May lead to shock
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Ruptured abdominal aortic aneurysm]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Diffuse
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* [[Fibrinogen]]
* [[D-dimer]]
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Focused Assessment with Sonography in Trauma (FAST) 
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* Unstable hemodynamics
|-
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |Intra-abdominal or [[retroperitoneal hemorrhage]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | Diffuse
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | ±
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | −
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* ↓ Hb
* ↓ Hct
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* CT scan
| style="padding: 5px 5px; background: #F5F5F5;" align="left" |
* History of [[trauma]]
|-
|}
|}
</small></small>


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


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{{Digestive system neoplasia}}
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[[Category:Gastroenterology]]
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[[Category:Syndromes]]
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Latest revision as of 23:15, 8 February 2019

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

Overview

Peutz-Jeghers syndrome must be differentiated from other diseases that cause hamartomatous polyps and mucocutaneous pigmentation, such as Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, juvenile polyposis, and McCune-Albright syndrome.

Differentiating Peutz-Jeghers Syndrome from other Diseases

Peutz-Jeghers syndrome must be differentiated from the following diseases:[1][2]

Differential diagnosis according to polys:

Diseases History and Symptoms Physical Examination Laboratory Findings Other Findings
Abdominal Pain Rectal Bleeding Hyperpigmentation Fatigue Abdominal Tenderness Hyperpigmentation Anemia Gene(s) Sertoli Cell Tumors Gastrointestinal Tumors Cancers
Juvenile Polyposis Syndrome + - + - - - SMAD4

BMPR1A

- Adenoma

Hamartoma+++

Colon
Cowden Syndrome - - Axillary+

Inguinal+

Facial+

- - Axillary+

Inguinal+

Facial+

- PTEN - Adenoma

Hamartoma+++

Breast, Thyroid, Endometrium Trichilemmoma, skin hamartoma, hyperplastic polyps, macrocephaly, breast fibrosis
Carney Syndrome - - Facial+

Mucosal+

- - Facial+

Mucosal+

- PRKAR1A ++ Thyroid Myxomas of skin and heart
Familial Adenomatous Polyposis + + - + +/- - + APC - Adenoma+++ Colon, brain Desmoid tumors, osteomas
Hereditary Non-Polyposis Colon Cancer - + - + +/- - + MLH1

MSH2

MSH3

MSH6

PMS1

PMS2

- Adenoma+ Endometrial, gastric, renal pelvis, ureter, and ovarian Sebaceous adenoma

Differential of gastrointestinal bleeding
Disease Clinical manifestations Diagnosis Comments
Symptoms Signs
Abdominal Pain Fever Rigors and chills Nausea or vomiting Jaundice Constipation Diarrhea Weight loss GI bleeding Hypo-

tension

Guarding Rebound Tenderness Bowel sounds Lab Findings Imaging
Peutz-Jeghers syndrome Depends on location of polyps it maybe present ± - ± - ± ± ±
  • Rectal bleeding may be present due to polyp
- - - +
  • Hamartomatous polyps present on endoscopy
  • Iron deficiency anemia on CBC
  • STK11 mutation
  • Intra-operative enteroscopy (laparatomy with endoscopy
  • Double balloon eneteroscopy
  • Colonoscopy
  • Barium Swallow
  • Can lead to colon cancer, breast cancer, ovarian cancer, cervical cancer, and testicular cancer
Peptic ulcer disease Diffuse ± + + Positive if perforated Positive if perforated Positive if perforated N
  • Ascitic fluid
    • LDH > serum LDH
    • Glucose < 50mg/dl
    • Total protein > 1g/dl
Gastritis Epigastric ± + Positive in chronic gastritis + N
Gastrointestinal perforation Diffuse + ± - ± + + + ± Hyperactive/hypoactive
  • WBC> 10,000
Acute diverticulitis LLQ + ± + + ± + Positive in perforated diverticulitis + + Hypoactive
  • CT scan
  • Ultrasound
Inflammatory bowel disease Diffuse ± ± + + + Normal or hyperactive

Extra intestinal findings:

Infective colitis Diffuse + ± + + Positive in fulminant colitis ± ± Hyperactive CT scan
  • Bowel wall thickening
  • Edema
Colon carcinoma Diffuse/localized ± ± + + ±
  • Normal or hyperactive if obstruction present
  • CBC
  • Carcinoembryonic antigen (CEA)
  • Colonoscopy
  • Flexible sigmoidoscopy
  • Barium enema
  • CT colonography 
  • PILLCAM 2: A colon capsule for CRC screening may be used in patients with an incomplete colonoscopy who lacks obstruction
Budd-Chiari syndrome RUQ ± ± Positive in liver failure leading to varices N
Findings on CT scan suggestive of Budd-Chiari syndrome include:
Ascitic fluid examination shows:
Hemochromatosis RUQ Positive in cirrhotic patients N
  • >60% TS
  • >240 μg/L SF
  • Raised LFT
    Hyperglycemia
  • Ultrasound shows evidence of cirrhosis
Extra intestinal findings:
  • Hyperpigmentation
  • Diabetes mellitus
  • Arthralgia
  • Impotence in males
  • Cardiomyopathy
  • Atherosclerosis
  • Hypopituitarism
  • Hypothyroidism
  • Extrahepatic cancer
  • Prone to specific infections
Cirrhosis RUQ + + + + N US
  • Stigmata of liver disease
  • Cruveilhier- Baumgarten murmur
Mesenteric ischemia Periumbilical Positive if bowel becomes gangrenous + + + + Positive if bowel becomes gangrenous Positive if bowel becomes gangrenous Hyperactive to absent CT angiography
  • SMA or SMV thrombosis
  • Also known as abdominal angina that worsens with eating
Acute ischemic colitis Diffuse + ± + + + + + + + Hyperactive then absent Abdominal x-ray
  • Distension and pneumatosis

CT scan

  • Double halo appearance, thumbprinting
  • Thickening of bowel
  • May lead to shock
Ruptured abdominal aortic aneurysm Diffuse ± + + + + N
  • Focused Assessment with Sonography in Trauma (FAST) 
  • Unstable hemodynamics
Intra-abdominal or retroperitoneal hemorrhage Diffuse ± ± + + N
  • ↓ Hb
  • ↓ Hct
  • CT scan

References

  1. Buck, J L; Harned, R K; Lichtenstein, J E; Sobin, L H (1992). "Peutz-Jeghers syndrome". RadioGraphics. 12 (2): 365–378. doi:10.1148/radiographics.12.2.1561426. ISSN 0271-5333.
  2. "Peutz-Jeghers Syndrome - GeneReviews® - NCBI Bookshelf".

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