Familial adenomatous polyposis differential diagnosis: Difference between revisions

Jump to navigation Jump to search
m (Bot: Removing from Primary care)
 
(21 intermediate revisions by 3 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Familial adenomatous polyposis}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Familial_adenomatous_polyposis]]


{{CMG}} {{AE}} {{MJK}}
{{CMG}} {{AE}} {{SSH}}, {{MJK}}
==Overview==
==Overview==
Familial adenomatous polyposis must be differentiated from other diseases that cause multiple [[Polyp|polyps]], such as [[Peutz-Jeghers syndrome]], familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and [[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]].
Familial adenomatous polyposis must be differentiated from other diseases that cause multiple [[Polyp|polyps]], such as [[Peutz-Jeghers syndrome|Peutz–Jeghers syndrome]], [[juvenile polyposis syndrome]], [[Cowden syndrome]], [[Carney syndrome]], and [[Hereditary nonpolyposis colorectal cancer|hereditary non–polyposis colon cancer]] ([[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]]).


==Differentiating familial adenomatous polyposis from other Diseases==
==Differentiating familial adenomatous polyposis from other Diseases==
* Familial adenomatous polyposis must be differentiated from other diseases that cause multiple [[Polyp|polyps]] including:
Familial adenomatous polyposis must be differentiated from other diseases that cause multiple [[Polyp|polyps]] including:<ref name="pmid20301519">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Jasperson KW, Patel SG, Ahnen DJ |title=APC-Associated Polyposis Conditions. |journal= |volume= |issue= |pages= |year= |pmid=20301519 |doi= |url=}}</ref><ref name="pmid11446392">{{cite journal |vauthors=Beech D, Pontius A, Muni N, Long WP |title=Familial adenomatous polyposis: a case report and review of the literature |journal=J Natl Med Assoc |volume=93 |issue=6 |pages=208–13 |year=2001 |pmid=11446392 |pmc=2594024 |doi= |url=}}</ref><ref name="HalfBercovich2009">{{cite journal|last1=Half|first1=Elizabeth|last2=Bercovich|first2=Dani|last3=Rozen|first3=Paul|title=Familial adenomatous polyposis|journal=Orphanet Journal of Rare Diseases|volume=4|issue=1|year=2009|pages=22|issn=1750-1172|doi=10.1186/1750-1172-4-22}}</ref><ref name="NieuwenhuisVasen2007">{{cite journal|last1=Nieuwenhuis|first1=M.H.|last2=Vasen|first2=H.F.A.|title=Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature|journal=Critical Reviews in Oncology/Hematology|volume=61|issue=2|year=2007|pages=153–161|issn=10408428|doi=10.1016/j.critrevonc.2006.07.004}}</ref><ref name="KingDozois2000">{{cite journal|last1=King|first1=John E.|last2=Dozois|first2=Roger R.|last3=Lindor|first3=Noralane M.|last4=Ahlquist|first4=David A.|title=Care of Patients and Their Families With Familial Adenomatous Polyposis|journal=Mayo Clinic Proceedings|volume=75|issue=1|year=2000|pages=57–67|issn=00256196|doi=10.4065/75.1.57}}</ref>
** [[Peutz-Jeghers syndrome]]
* [[Peutz-Jeghers syndrome|Peutz–Jeghers syndrome]]
** Familial juvenile polyps or hyperplastic polyposis
* [[Juvenile polyposis syndrome]]
** Hereditary mixed polyposis syndromes
* [[Cowden syndrome]]
** [[Hereditary nonpolyposis colorectal cancer|Lynch syndrome<br> ]]
* [[Carney syndrome]]
 
* [[Lynch syndrome|Hereditary Non–Polyposis Colon Cancer]] ([[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]])
Differential diagnosis according to polys:
 
{|
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! rowspan="2" |Diseases
! rowspan="2" |Diseases
! colspan="4" |History and Symptoms
! colspan="3" |History and Symptoms
! colspan="3" |Physical Examination
! colspan="3" |Physical Examination
! colspan="4" |Laboratory Findings
! colspan="3" |Laboratory Findings
! rowspan="2" |Other Findings
! rowspan="2" |Other Findings
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
!Abdominal Pain
!Abdominal Pain
!Rectal Bleeding
!Rectal Bleeding
!Hyperpigmentation
!Fatigue
!Fatigue
!Abdominal Tenderness
!Abdominal Tenderness
Line 31: Line 28:
!Anemia
!Anemia
!Gene(s)
!Gene(s)
!Sertoli Cell Tumors
!Gastrointestinal Tumors
!Gastrointestinal Tumors
!Cancers
!Cancers
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Juvenile Polyposis Syndrome'''
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Familial Adenomatous Polyposis'''
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/–
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
| style="background: #F5F5F5; padding: 5px;" |SMAD4
* [[APC (gene)|''APC'' gene]]
 
* [[MUTYH|''MUTYH'' gene]]
[[BMPR1A]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
| style="background: #F5F5F5; padding: 5px;" | -
* [[Adenoma]]+++
| style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+ 
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
 
* [[Colon (anatomy)|Colon]]
[[Hamartoma]]+++
* [[Brain]]
| style="background: #F5F5F5; padding: 5px;" |[[Colon (anatomy)|Colon]]
* [[Thyroid]]
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Desmoid tumor]]
* [[Osteoma]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Peutz-Jeghers syndrome|'''Peutz–Jeghers syndrome''']]
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
* [[STK11]] (LBK1) gene
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Adenoma]]+
* [[Hamartoma]]+++
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Breast]]
* [[Lung]]
* [[Pancreas]]
* [[Ovaries]]
* [[Sertoli cell|Sertoli cells]]
* [[Uterus]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Juvenile polyposis syndrome|Juvenile Polyposis Syndrome]]'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* SMAD4
* [[BMPR1A]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Adenoma]]+ 
* [[Hamartoma]]+++
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Colon (anatomy)|Colon]]
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Cowden syndrome|'''Cowden Syndrome''']]
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Cowden syndrome|'''Cowden Syndrome''']]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px;" |[[Axillary]]+
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
[[Inguinal region|Inguinal]]+
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
 
* [[Axillary]]+ [[Inguinal region|Inguinal]]+ [[Facial]]+
[[Facial]]+
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
| style="background: #F5F5F5; padding: 5px;" | -
* [[PTEN (gene)|PTEN]]
| style="background: #F5F5F5; padding: 5px;" |[[Axillary]]+
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
 
* [[Adenoma]]+ 
[[Inguinal region|Inguinal]]+
* [[Hamartoma]]+++
 
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
[[Facial]]+
* [[Breast]]
| style="background: #F5F5F5; padding: 5px;" | -
* [[Thyroid]]
| style="background: #F5F5F5; padding: 5px;" |[[PTEN (gene)|PTEN]]
* [[Endometrium]]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
| style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+ 
* [[Trichilemmoma]]
 
* Skin [[hamartoma]]
[[Hamartoma]]+++
* [[Colon polyps|Hyperplastic polyp]]
| style="background: #F5F5F5; padding: 5px;" |[[Breast]], [[Thyroid]], [[Endometrium]]
* [[Macrocephaly]]
| style="background: #F5F5F5; padding: 5px;" |[[Trichilemmoma]], [[skin]] [[hamartoma]], [[Hyperplasia|hyperplastic]] [[Polyp|polyps]], [[macrocephaly]], [[breast]] [[fibrosis]]
* Breast [[fibrosis]]
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']]
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']]
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px;" |[[Facial]]+
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
[[Mucous membrane|Mucosal]]+
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
| style="background: #F5F5F5; padding: 5px;" | -
* [[Facial]]+ [[Mucous membrane|Mucosal]]+
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px;" |[[Facial]]+
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
 
* [[PRKAR1A]]
[[Mucous membrane|Mucosal]]+
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
| style="background: #F5F5F5; padding: 5px;" |[[PRKAR1A]]
* [[Thyroid]]
| style="background: #F5F5F5; padding: 5px;" | ++
* [[Sertoli-Leydig cell tumor|Sertoli Cell]]
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
| style="background: #F5F5F5; padding: 5px;" |[[Thyroid]]
* Myxoma of [[skin]]
| style="background: #F5F5F5; padding: 5px;" |[[Myxoma|Myxomas]] of [[skin]] and [[heart]]
* Myxoma of [[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]]
|}
 
{| 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]]
|-
|-
|}
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hereditary nonpolyposis colorectal cancer|'''Hereditary Non–Polyposis Colon Cancer''']]
| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/–
| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[MLH1]]
* [[MSH2]]
* [[MSH3]]
* [[MSH6]]
* [[PMS1]]
* [[PMS2]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Adenoma]]+
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Endometrium]]
* [[Stomach]]
* [[Kidney|Kidneys]]
* [[Ureter]]
* [[Ovary|Ovaries]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Sebaceous gland|Sebaceous]] [[adenoma]]
|}
|}


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
​​


[[Category:Medicine]]
[[Category:Gastroenterology]]
[[Category:Gastroenterology]]
[[Category:Genetic disorders]]
[[Category:Genetic Disease]]
[[Category:Disease]]
{{WH}}
{{WS}}
[[Category:Up-To-Date]]
[[Category:Oncology]]
[[Category:Oncology]]
[[Category:Medicine]]
[[Category:Up-To-Date]]
[[Category:Gastroenterology]]

Latest revision as of 21:43, 29 July 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2], Mohamad Alkateb, MBBCh [3]

Overview

Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps, such as Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Carney syndrome, and hereditary non–polyposis colon cancer (Lynch syndrome).

Differentiating familial adenomatous polyposis from other Diseases

Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps including:[1][2][3][4][5]

Diseases History and Symptoms Physical Examination Laboratory Findings Other Findings
Abdominal Pain Rectal Bleeding Fatigue Abdominal Tenderness Hyperpigmentation Anemia Gene(s) Gastrointestinal Tumors Cancers
Familial Adenomatous Polyposis + + + +/– +
Peutz–Jeghers syndrome + + + + + +
Juvenile Polyposis Syndrome + +
Cowden Syndrome
Carney Syndrome
Hereditary Non–Polyposis Colon Cancer + + +/– +

References

  1. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Jasperson KW, Patel SG, Ahnen DJ. "APC-Associated Polyposis Conditions". PMID 20301519. Vancouver style error: initials (help)
  2. Beech D, Pontius A, Muni N, Long WP (2001). "Familial adenomatous polyposis: a case report and review of the literature". J Natl Med Assoc. 93 (6): 208–13. PMC 2594024. PMID 11446392.
  3. Half, Elizabeth; Bercovich, Dani; Rozen, Paul (2009). "Familial adenomatous polyposis". Orphanet Journal of Rare Diseases. 4 (1): 22. doi:10.1186/1750-1172-4-22. ISSN 1750-1172.
  4. Nieuwenhuis, M.H.; Vasen, H.F.A. (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature". Critical Reviews in Oncology/Hematology. 61 (2): 153–161. doi:10.1016/j.critrevonc.2006.07.004. ISSN 1040-8428.
  5. King, John E.; Dozois, Roger R.; Lindor, Noralane M.; Ahlquist, David A. (2000). "Care of Patients and Their Families With Familial Adenomatous Polyposis". Mayo Clinic Proceedings. 75 (1): 57–67. doi:10.4065/75.1.57. ISSN 0025-6196.

​​ ​