Familial adenomatous polyposis differential diagnosis: Difference between revisions

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Revision as of 23:25, 27 February 2018

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
Diseases	Abdominal Pain	Rectal Bleeding	Fatigue	Abdominal Tenderness	Hyperpigmentation	Anemia	Gene(s)	Gastrointestinal Tumors	Cancers	Other Findings
Familial Adenomatous Polyposis	+	+	+	+/–	–	+	APC gene MUTYH gene	Adenoma+++	Colon Brain Thyroid	Desmoid tumor Osteoma
Peutz–Jeghers syndrome	+	+	+	+	+	+	STK11 (LBK1) gene	Adenoma+ Hamartoma+++	Breast Lung Pancreas Ovaries Sertoli cells Uterine
Juvenile Polyposis Syndrome	+		+	–	–	–	SMAD4 BMPR1A	Adenoma+ Hamartoma+++	Colon
Cowden Syndrome	–	–	–	–	Axillary+ Inguinal+ Facial+	–	PTEN	Adenoma+ Hamartoma+++	Breast Thyroid Endometrium	Trichilemmoma Skin hamartoma Hyperplastic polyp Macrocephaly Breast fibrosis
Carney Syndrome	–	–	–	–	Facial+ Mucosal+	–	PRKAR1A		Thyroid Sertoli Cell	Myxoma of skin Myxoma of heart
Hereditary Non–Polyposis Colon Cancer	–	+	+	+/–	–	+	MLH1 MSH2 MSH3 MSH6 PMS1 PMS2	Adenoma+	Endometrium Stomach Kidneys Ureter Ovaries	Sebaceous adenoma

References

↑ 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)
↑ 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.
↑ 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.
↑ 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.
↑ 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.

[pmid20301519-1] 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)

[pmid11446392-2] 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.

[HalfBercovich2009-3] 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.

[NieuwenhuisVasen2007-4] 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.

[KingDozois2000-5] 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.

[1]

[2]

[3]

[4]

[5]

@@ Line 4: / Line 4: @@
 {{CMG}} {{AE}} {{SSH}}, {{MJK}}
 ==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]]).
+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>
+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|Peutz–Jeghers syndrome]]
-** Juvenile polyposis syndrome
+* [[Juvenile polyposis syndrome]]
-** Cowden Syndrome
+* [[Cowden syndrome]]
-** Carney Syndrome
+* [[Carney syndrome]]
-** Hereditary Non–Polyposis Colon Cancer ([[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]])
+* [[Lynch syndrome|Hereditary Non–Polyposis Colon Cancer]] ([[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]])
 {|
 |- style="background: #4479BA; color: #FFFFFF; text-align: center;"
@@ Line 42: / Line 41: @@
 * [[APC (gene)|''APC'' gene]]
 * [[MUTYH|''MUTYH'' gene]]
-| style="background: #F5F5F5; padding: 5px; text-align: left;" |[[Adenoma]]+++
+| style="background: #F5F5F5; padding: 5px; text-align: left;" |
+* [[Adenoma]]+++
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Colon (anatomy)|Colon]]
@@ Line 61: / Line 61: @@
 * [[STK11]] (LBK1) gene
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Adenoma]]+
+* [[Adenoma]]+
-[[Hamartoma]]+++
+* [[Hamartoma]]+++
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * Breast
@@ Line 83: / Line 83: @@
 * [[BMPR1A]]
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Adenoma]]+
+* [[Adenoma]]+
-[[Hamartoma]]+++
+* [[Hamartoma]]+++
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Colon (anatomy)|Colon]]
@@ Line 95: / Line 95: @@
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Axillary]]+
+* [[Axillary]]+ [[Inguinal region|Inguinal]]+ [[Facial]]+
-[[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]]+
+* [[Adenoma]]+
-[[Hamartoma]]+++
+* [[Hamartoma]]+++
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Breast]]
@@ Line 121: / Line 119: @@
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Facial]]+
+* [[Facial]]+ [[Mucous membrane|Mucosal]]+
-[[Mucous membrane|Mucosal]]+
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
@@ Line 149: / Line 146: @@
 * [[PMS2]]
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Adenoma]]+
+* [[Adenoma]]+
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Endometrium]]
@@ Line 162: / Line 159: @@
 ==References==
 {{Reflist|2}}
-[[Category:Medicine]]
+[[Category:Medicine]]
 [[Category:Gastroenterology]]
 [[Category:Oncology]]
 [[Category:Up-To-Date]]
 [[Category:Primary care]]

Familial adenomatous polyposis differential diagnosis: Difference between revisions

Revision as of 23:25, 27 February 2018

Overview

Differentiating familial adenomatous polyposis from other Diseases

References

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