Familial adenomatous polyposis differential diagnosis: Difference between revisions

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{{Familial adenomatous polyposis}}
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==Overview==
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==
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]]
* [[Juvenile polyposis syndrome]]
* [[Cowden syndrome]]
* [[Carney syndrome]]
* [[Lynch syndrome|Hereditary Non–Polyposis Colon Cancer]] ([[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]])
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! rowspan="2" |Diseases
! colspan="3" |History and Symptoms
! colspan="3" |Physical Examination
! colspan="3" |Laboratory Findings
! rowspan="2" |Other Findings
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
!Abdominal Pain
!Rectal Bleeding
!Fatigue
!Abdominal Tenderness
!Hyperpigmentation
!Anemia
!Gene(s)
!Gastrointestinal Tumors
!Cancers
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Familial Adenomatous Polyposis'''
| 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;" |
* [[APC (gene)|''APC'' gene]]
* [[MUTYH|''MUTYH'' gene]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Adenoma]]+++
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Colon (anatomy)|Colon]]
* [[Brain]]
* [[Thyroid]]
| 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: #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;" |
* [[Axillary]]+ [[Inguinal region|Inguinal]]+ [[Facial]]+
| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[PTEN (gene)|PTEN]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Adenoma]]+ 
* [[Hamartoma]]+++
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Breast]]
* [[Thyroid]]
* [[Endometrium]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Trichilemmoma]]
* Skin [[hamartoma]]
* [[Colon polyps|Hyperplastic polyp]]
* [[Macrocephaly]]
* Breast [[fibrosis]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney 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: left;" |
* [[Facial]]+ [[Mucous membrane|Mucosal]]+
| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[PRKAR1A]]
| style="background: #F5F5F5; padding: 5px; text-align: center;" |
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* [[Thyroid]]
* [[Sertoli-Leydig cell tumor|Sertoli Cell]]
| style="background: #F5F5F5; padding: 5px; text-align: left;" |
* Myxoma of [[skin]]
* Myxoma of [[heart]]
|-
| 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}}
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[[Category:Genetic disorders]]
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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.

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