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familial adenomatous polyposis 3
ICD-10 Codes
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Description
Familial Adenomatous Polyposis (FAP): A Rare Inherited Condition
Familial adenomatous polyposis (FAP) is an inherited condition that affects the gastrointestinal tract. This rare disorder leads to the formation of hundreds or thousands of polyps inside the colon and rectum.
Key Features:
- Inherited: FAP is caused by a defect in the adenomatous polyposis coli (APC) gene, which is passed down from parents to children.
- Gastrointestinal tract affected: The condition primarily affects the large intestine (colon) and rectum.
- Polyps formation: Hundreds or thousands of polyps, also known as adenomas, form on the inner walls of the colon and rectum.
Causes and Risk:
- FAP is caused by a genetic mutation in the APC gene.
- The lifetime risk of developing colon cancer is near 100% if left untreated.
Symptoms and Diagnosis:
- Early symptoms may include bleeding from the rectum, abdominal pain, or changes in bowel habits.
- A diagnosis can be made through genetic testing, colonoscopy, or other medical procedures.
Note: This information is based on search result [3] and [4].
Additional Characteristics
- Genetic mutation
- Adenomas
- Polyps
- Colon
- Rectum
- APC gene
Signs and Symptoms
Symptoms of Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps. The symptoms of FAP can vary from person to person, but some common signs and symptoms include:
- Dental abnormalities: People with FAP may experience dental problems such as tooth decay, gum disease, or missing teeth [3].
- Desmoid tumors: Desmoid tumors are a type of benign tumor that can occur in the abdominal wall, small intestine, or other parts of the body. They can cause symptoms such as pain, swelling, and bowel obstruction [3].
- Benign and malignant tumors of the duodenum: The duodenum is the first part of the small intestine, and people with FAP may develop benign or malignant tumors in this area, which can cause symptoms such as abdominal pain, bleeding, or weight loss [3].
It's essential to note that these symptoms can be similar to those experienced by people with other conditions, so a proper diagnosis from a healthcare professional is crucial.
References: [1] Context result 3 [2] Context result 4
Additional Symptoms
- Dental abnormalities
- Desmoid tumors
- Benign and malignant tumors of the duodenum
Diagnostic Tests
Diagnostic Tests for Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP) is a genetic disorder that can be diagnosed through various tests. Here are some of the diagnostic tests used to detect FAP:
- Genetic Testing: A blood sample is taken and sent to a laboratory for analysis. The lab looks for changes in the APC gene, which is responsible for FAP [1]. Genetic testing can also determine if you're at risk of developing FAP if you have a family history of the disease [2].
- Colonoscopy: This test involves inserting a flexible tube with a camera and light on the end into the colon to examine the lining for polyps. If you have 100 or more polyps, it may indicate FAP [3].
- Blood Tests: Complete blood cell (CBC) count and alpha-fetoprotein (AFP) blood test can also be used to diagnose FAP in children under the age of 5 years as part of a screening program [4].
It's essential to note that diagnosis of FAP is primarily based on clinical findings, including the number and history of colorectal adenomatous polyps [5]. If you have a family history of FAP or are experiencing symptoms, consult with your doctor about getting tested.
References: [1] Context 1 [2] Context 2 [3] Context 3 [4] Context 4 [5] Context 8
Additional Diagnostic Tests
- Blood Tests
- Genetic Testing
- Colonoscopy
Treatment
Treatment Options for Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP) is a rare, inherited condition characterized by the growth of hundreds of polyps in the gastrointestinal tract and a high risk of colorectal cancer. While there is no cure for FAP, various treatment options are available to manage the condition and prevent colorectal cancer.
Medications Used in FAP Treatment
Several medications have been investigated as potential treatments for FAP:
- Celecoxib: A COX-2 inhibitor that has shown promise in reducing polyp numbers and sizes. However, its use is limited due to concerns about coronary artery disease [3][6].
- Sulindac: Another nonsteroidal anti-inflammatory drug (NSAID) that has been studied for its potential to reduce polyp growth.
- Erlotinib: A chemotherapy drug that has been used in combination with sulindac to decrease polyp numbers and sizes [8].
Other Treatment Options
In addition to medications, other treatment options are available for FAP:
- Surgery: The most common treatment for FAP involves surgical removal of the colon or part of it. This can help prevent colorectal cancer by removing the polyps.
- Screening: Regular screenings are essential for individuals with FAP to monitor polyp growth and detect any potential cancers early.
References
[3] Vilar-Sanchez, E. (2022). Familial Adenomatous Polyposis: Current Approaches to Addressing the Risk. [Source 3] [6] Drugs.com Mobile App. Access drug & treatment information, identify pills, check interactions and set up personal medication records. [8] Burke, C. A. (2020). Celecoxib for Familial Adenomatous Polyposis: A Review of the Literature. [Source 9]
Note: The references provided are based on the search results and may not be an exhaustive list of all relevant sources.
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses of Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps. When diagnosing FAP, it's essential to consider other diseases that cause multiple polyps, as they can mimic the symptoms of FAP.
Other Differential Diagnoses:
- Peutz-Jeghers Syndrome: This is a rare genetic disorder characterized by the growth of polyps in the gastrointestinal tract and an increased risk of certain cancers. [1][2]
- Juvenile Polyposis Syndrome: This is a rare condition characterized by the presence of multiple polyps in the colon, which can increase the risk of colorectal cancer. [3]
- Cronkhite-Canada Syndrome: This is a rare disorder characterized by the growth of polyps in the gastrointestinal tract and an increased risk of certain cancers. [1][2]
- Neurofibromatosis Type 1: This is a genetic disorder that can cause multiple tumors to form on nerve tissue, which can increase the risk of certain cancers. [4]
Key Points:
- FAP must be differentiated from other diseases that cause multiple polyps.
- A diagnosis of FAP requires the presence of at least 100 polyps or 20 for attenuated FAP (AFAP) and the APC mutation.
- Referral to a geneticist or genetic counselor is mandatory for accurate diagnosis and management. [5]
References:
[1] Apr 16, 2019 — Differential Diagnoses · Cowden Disease (Multiple Hamartoma Syndrome) · Cronkhite-Canada Syndrome · Neurofibromatosis Type 1 · Peutz-Jeghers ...
[2] by S Aretz · 2010 · Cited by 84 — MUTYH-associated polyposis (MAP) is the most important differential diagnosis of APC-associated FAP (e16– e18).
[3] by E Half · 2009 · Cited by 918 — Genetic differential diagnosis-MUTYH, in brief​​ MUTYH mutation causes the polyposis condition known as MUTYH Attenuated FAP (MAP).
[4] by DC Chung · Cited by 7 — This topic will review the genetics, clinical manifestations, and diagnosis of FAP and its variants (attenuated FAP [AFAP], and gastric ...
[5] by E Half · 2009 · Cited by 918 — Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as ...
Additional Differential Diagnoses
Additional Information
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