Familial adenomatous polyposis: Difference between revisions
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[[File:Congenital hypertrophy of the retinal pigment epithelium.jpg|CHRPE - Congenital hypertrophy of the retinal pigment epithelium|thumb]] | {{SI}} | ||
{{Infobox medical condition | |||
| name = Familial adenomatous polyposis | |||
| image = [[File:Familial_adenomatous_polyposis_as_seen_on_sigmoidoscopy.jpg|left|thumb|Familial adenomatous polyposis as seen on sigmoidoscopy]] | |||
| caption = Numerous polyps seen in the colon of a patient with familial adenomatous polyposis | |||
| synonyms = FAP, familial polyposis coli | |||
| pronounce = | |||
| specialty = [[Gastroenterology]], [[Medical genetics]] | |||
| symptoms = [[Colorectal polyps]], [[rectal bleeding]], [[abdominal pain]] | |||
| complications = [[Colorectal cancer]], [[duodenal cancer]], [[desmoid tumors]] | |||
| onset = Typically in [[adolescence]] | |||
| duration = Lifelong | |||
| types = [[Attenuated familial adenomatous polyposis]] | |||
| causes = [[Genetic mutation]] in the [[APC gene]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Colonoscopy]], [[genetic testing]] | |||
| differential = [[Lynch syndrome]], [[Peutz-Jeghers syndrome]] | |||
| prevention = Regular screening, prophylactic [[colectomy]] | |||
| treatment = [[Surgical removal]] of polyps, [[colectomy]] | |||
| medication = [[NSAIDs]], [[sulindac]] | |||
| prognosis = Good with early detection and management | |||
| frequency = 1 in 10,000 individuals | |||
}} | |||
[[File:Congenital hypertrophy of the retinal pigment epithelium.jpg|CHRPE - Congenital hypertrophy of the retinal pigment epithelium|left|thumb]] | |||
=Familial Adenomatous Polyposis (FAP)= | =Familial Adenomatous Polyposis (FAP)= | ||
'''Familial Adenomatous Polyposis (FAP)''' is an [[autosomal dominant]] inherited condition characterized by the formation of numerous [[adenomatous polyps]] mainly in the [[epithelium]] of the [[large intestine]]. Although these polyps are initially benign, they can transform into [[colon cancer]] if not treated. FAP exists in three known variants: FAP and attenuated FAP are caused by defects in the [[APC gene]] on [[chromosome 5]], while autosomal recessive FAP, or MYH-associated polyposis, results from mutations in the [[MUTYH gene]] on [[chromosome 1]]. FAP is the most severe and common form. Early detection and removal of the polyps can significantly reduce the risk of cancer spreading beyond the colon. | '''Familial Adenomatous Polyposis (FAP)''' is an [[autosomal dominant]] inherited condition characterized by the formation of numerous [[adenomatous polyps]] mainly in the [[epithelium]] of the [[large intestine]]. Although these polyps are initially benign, they can transform into [[colon cancer]] if not treated. FAP exists in three known variants: FAP and attenuated FAP are caused by defects in the [[APC gene]] on [[chromosome 5]], while autosomal recessive FAP, or MYH-associated polyposis, results from mutations in the [[MUTYH gene]] on [[chromosome 1]]. FAP is the most severe and common form. Early detection and removal of the polyps can significantly reduce the risk of cancer spreading beyond the colon. | ||
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[[Image:Tubular adenoma 2 high mag.jpg|left|thumb|200px|[[Micrograph]] of a tubular adenoma, the [[colorectal cancer]] precursor most commonly associated with FAP]] | |||
[[Image:Tubular adenoma 2 high mag.jpg|thumb | [[File:Familial_Adenomatous_Polyposes_Colon_-1.jpg|left|thumb|[[Colectomy]] specimen showing numerous polyps throughout the large bowel]] | ||
[[File:Familial_Adenomatous_Polyposes_Colon_-1.jpg|thumb|[[Colectomy]] specimen showing numerous polyps throughout the large bowel]] | |||
==Root Cause== | ==Root Cause== | ||
The genetic mutation in FAP affects [[tumor suppressor genes]], diminishing the body's defense against aged cells turning cancerous. This alteration allows cells of the intestinal wall to evolve into cancerous polyps over time. Attenuated familial adenomatous polyposis, a less severe form, results from a partially functional APC gene, leading to fewer polyps and a later onset of cancer, typically between 40 and 70 years old. The autosomal recessive variant necessitates both parents to be carriers. | The genetic mutation in FAP affects [[tumor suppressor genes]], diminishing the body's defense against aged cells turning cancerous. This alteration allows cells of the intestinal wall to evolve into cancerous polyps over time. Attenuated familial adenomatous polyposis, a less severe form, results from a partially functional APC gene, leading to fewer polyps and a later onset of cancer, typically between 40 and 70 years old. The autosomal recessive variant necessitates both parents to be carriers. | ||
==Symptoms and Diagnosis== | ==Symptoms and Diagnosis== | ||
Patients develop hundreds to thousands of polyps in the colon and sometimes other areas, which may bleed or lead to [[anemia]]. Advanced cases can lead to weight loss, altered bowel habits, or metastasis. Diagnosis is confirmed through [[colonoscopy]], [[genetic testing]], or observing clinical presentation. It's crucial for at-risk individuals to undergo regular intestinal tract monitoring from puberty or early adulthood. | Patients develop hundreds to thousands of polyps in the colon and sometimes other areas, which may bleed or lead to [[anemia]]. Advanced cases can lead to weight loss, altered bowel habits, or metastasis. Diagnosis is confirmed through [[colonoscopy]], [[genetic testing]], or observing clinical presentation. It's crucial for at-risk individuals to undergo regular intestinal tract monitoring from puberty or early adulthood. | ||
==Genetics== | ==Genetics== | ||
FAP's genetics involve mutations in the APC gene or the MUTYH gene, leading to a lack of proper tumor suppression. The APC gene plays a key role in cell communication and growth regulation, while the MUTYH gene is involved in DNA repair. Mutations in these genes disrupt normal cellular functions, increasing cancer risk. | FAP's genetics involve mutations in the APC gene or the MUTYH gene, leading to a lack of proper tumor suppression. The APC gene plays a key role in cell communication and growth regulation, while the MUTYH gene is involved in DNA repair. Mutations in these genes disrupt normal cellular functions, increasing cancer risk. | ||
==Management== | ==Management== | ||
Management of FAP includes identifying at-risk individuals through family history or genetic testing, regular monitoring of the intestinal tract, and surgical intervention when necessary. Prophylactic surgery, such as colectomy, is often recommended to prevent colon cancer. Medications, like NSAIDs, may slow polyp malignancy, but surgery is a primary treatment to remove the affected colon sections. | Management of FAP includes identifying at-risk individuals through family history or genetic testing, regular monitoring of the intestinal tract, and surgical intervention when necessary. Prophylactic surgery, such as colectomy, is often recommended to prevent colon cancer. Medications, like NSAIDs, may slow polyp malignancy, but surgery is a primary treatment to remove the affected colon sections. | ||
==Prognosis== | ==Prognosis== | ||
Early detection and treatment of FAP significantly improve outcomes. If polyps are confined to the colon's inner wall, surgical removal can prevent cancer spread. Post-surgery, regular monitoring is essential to detect any new polyps in the remaining colon sections. | Early detection and treatment of FAP significantly improve outcomes. If polyps are confined to the colon's inner wall, surgical removal can prevent cancer spread. Post-surgery, regular monitoring is essential to detect any new polyps in the remaining colon sections. | ||
==Epidemiology== | ==Epidemiology== | ||
FAP affects 1 in 10,000 to 1 in 15,000 births. Without treatment, colon cancer is almost inevitable by middle age. The attenuated form of FAP presents fewer polyps and a later onset of cancer, providing different management options. | FAP affects 1 in 10,000 to 1 in 15,000 births. Without treatment, colon cancer is almost inevitable by middle age. The attenuated form of FAP presents fewer polyps and a later onset of cancer, providing different management options. | ||
== Polyposis registries == | == Polyposis registries == | ||
Because of the genetic nature of FAP, polyposis registries have been developed around the world. The purpose of these registries is to increase knowledge about the transmissibility of FAP, but also to document, track, and notify family members of affected individuals. | Because of the genetic nature of FAP, polyposis registries have been developed around the world. The purpose of these registries is to increase knowledge about the transmissibility of FAP, but also to document, track, and notify family members of affected individuals. | ||
==Glossary== | ==Glossary== | ||
* '''[[Adenomatous polyps]]''' - Benign growths that may develop into cancer if not removed. | * '''[[Adenomatous polyps]]''' - Benign growths that may develop into cancer if not removed. | ||
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* '''[[Colonoscopy]]''' - A diagnostic procedure to examine the interior of the colon for polyps and cancer. | * '''[[Colonoscopy]]''' - A diagnostic procedure to examine the interior of the colon for polyps and cancer. | ||
* '''[[Genetic testing]]''' - Testing conducted to identify genetic mutations associated with diseases like FAP. | * '''[[Genetic testing]]''' - Testing conducted to identify genetic mutations associated with diseases like FAP. | ||
== See also == | == See also == | ||
* [[Colorectal cancer]] | * [[Colorectal cancer]] | ||
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* [[Colorectal polyp]] | * [[Colorectal polyp]] | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
== External links == | == External links == | ||
{{Medical resources | {{Medical resources | ||
| Line 68: | Line 78: | ||
| Orphanet = 733 | | Orphanet = 733 | ||
}} | }} | ||
{{Epithelial neoplasms}} | {{Epithelial neoplasms}} | ||
{{Digestive system neoplasia}} | {{Digestive system neoplasia}} | ||
{{Cytoskeletal defects}} | {{Cytoskeletal defects}} | ||
{{DEFAULTSORT:Familial Adenomatous Polyposis}} | {{DEFAULTSORT:Familial Adenomatous Polyposis}} | ||
[[Category:Benign neoplasms]] | [[Category:Benign neoplasms]] | ||
Latest revision as of 15:57, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Familial adenomatous polyposis | |
|---|---|
 | |
| Synonyms | FAP, familial polyposis coli |
| Pronounce | |
| Specialty | Gastroenterology, Medical genetics |
| Symptoms | Colorectal polyps, rectal bleeding, abdominal pain |
| Complications | Colorectal cancer, duodenal cancer, desmoid tumors |
| Onset | Typically in adolescence |
| Duration | Lifelong |
| Types | Attenuated familial adenomatous polyposis |
| Causes | Genetic mutation in the APC gene |
| Risks | Family history of the condition |
| Diagnosis | Colonoscopy, genetic testing |
| Differential diagnosis | Lynch syndrome, Peutz-Jeghers syndrome |
| Prevention | Regular screening, prophylactic colectomy |
| Treatment | Surgical removal of polyps, colectomy |
| Medication | NSAIDs, sulindac |
| Prognosis | Good with early detection and management |
| Frequency | 1 in 10,000 individuals |
| Deaths | N/A |
Familial Adenomatous Polyposis (FAP)[edit]
Familial Adenomatous Polyposis (FAP) is an autosomal dominant inherited condition characterized by the formation of numerous adenomatous polyps mainly in the epithelium of the large intestine. Although these polyps are initially benign, they can transform into colon cancer if not treated. FAP exists in three known variants: FAP and attenuated FAP are caused by defects in the APC gene on chromosome 5, while autosomal recessive FAP, or MYH-associated polyposis, results from mutations in the MUTYH gene on chromosome 1. FAP is the most severe and common form. Early detection and removal of the polyps can significantly reduce the risk of cancer spreading beyond the colon.
Root Cause[edit]
The genetic mutation in FAP affects tumor suppressor genes, diminishing the body's defense against aged cells turning cancerous. This alteration allows cells of the intestinal wall to evolve into cancerous polyps over time. Attenuated familial adenomatous polyposis, a less severe form, results from a partially functional APC gene, leading to fewer polyps and a later onset of cancer, typically between 40 and 70 years old. The autosomal recessive variant necessitates both parents to be carriers.
Symptoms and Diagnosis[edit]
Patients develop hundreds to thousands of polyps in the colon and sometimes other areas, which may bleed or lead to anemia. Advanced cases can lead to weight loss, altered bowel habits, or metastasis. Diagnosis is confirmed through colonoscopy, genetic testing, or observing clinical presentation. It's crucial for at-risk individuals to undergo regular intestinal tract monitoring from puberty or early adulthood.
Genetics[edit]
FAP's genetics involve mutations in the APC gene or the MUTYH gene, leading to a lack of proper tumor suppression. The APC gene plays a key role in cell communication and growth regulation, while the MUTYH gene is involved in DNA repair. Mutations in these genes disrupt normal cellular functions, increasing cancer risk.
Management[edit]
Management of FAP includes identifying at-risk individuals through family history or genetic testing, regular monitoring of the intestinal tract, and surgical intervention when necessary. Prophylactic surgery, such as colectomy, is often recommended to prevent colon cancer. Medications, like NSAIDs, may slow polyp malignancy, but surgery is a primary treatment to remove the affected colon sections.
Prognosis[edit]
Early detection and treatment of FAP significantly improve outcomes. If polyps are confined to the colon's inner wall, surgical removal can prevent cancer spread. Post-surgery, regular monitoring is essential to detect any new polyps in the remaining colon sections.
Epidemiology[edit]
FAP affects 1 in 10,000 to 1 in 15,000 births. Without treatment, colon cancer is almost inevitable by middle age. The attenuated form of FAP presents fewer polyps and a later onset of cancer, providing different management options.
Polyposis registries[edit]
Because of the genetic nature of FAP, polyposis registries have been developed around the world. The purpose of these registries is to increase knowledge about the transmissibility of FAP, but also to document, track, and notify family members of affected individuals.
Glossary[edit]
- Adenomatous polyps - Benign growths that may develop into cancer if not removed.
- Autosomal dominant - A pattern of inheritance where a mutation in just one of the two gene copies is sufficient to cause a disorder.
- Chromosome 5 - One of the 23 pairs of human chromosomes, home to the APC gene associated with FAP.
- Chromosome 1 - One of the 23 pairs of human chromosomes, where the MUTYH gene associated with autosomal recessive FAP is located.
- Colonoscopy - A diagnostic procedure to examine the interior of the colon for polyps and cancer.
- Genetic testing - Testing conducted to identify genetic mutations associated with diseases like FAP.
See also[edit]
External links[edit]
| Glandular and epithelial cancer | ||||||||||||||||||||||||
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| Digestive system neoplasia | ||||||||||||||||||||||||
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