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Familial adenomatous polyposis : Causes-Symptoms-Diagnosis-Treatment

 What is Familial adenomatous polyposis (FAP)?

Familial adenomatous polyposis (FAP) may be a rare, congenital disease during which an individual develops various malignant tumor polyps known as adenomas within the intestine (colon and rectum).

Polyps develop in teenage years or early 20s. The amount of polyps varies from but one hundred to thousands, and with increasing age the polyps get larger and a lot more problematic. Eventually, one or a lot of those adenomas can become cancerous.

What is Familial adenomatous polyposis (FAP)?
Familial adenomatous polyposis

Without treatment, patients with FAP have a virtually 100 percent period of time risk of body part cancer. the possibility of developing body part cancer will increase with age; the common age at which individuals are diagnosed with cancer is thirty-nine.

Familial adenomatous polyposis (FAP) is an associate degree disease characterized by cancer of the big bowel (colon) and body part. individuals with the classic style of familial adenomatous polyposis might begin to develop multiple noncancerous (benign) growths (polyps) within the colon as early as their young years. Unless the colon is removed, these polyps can become malignant (cancerous). The common age at which a person develops carcinoma in classic familial adenomatous polyposis is thirty-nine years. Some individuals have a variant of the disorder, known as attenuated familial adenomatous polyposis, during which polyp growth is delayed. The common age of body part cancer onset for attenuated familial adenomatous polyposis is fifty five years.

In individuals with classic familial adenomatous polyposis, the amount of polyps will increase with age, and a whole bunch to thousands of polyps will develop within the colon. additionally of explicit significance area unit noncancerous growths known as desmoid tumors. These fibrous tumors sometimes occur within the tissue covering the intestines and will be aggravated by surgery to get rid of the colon. Desmoid tumors tend to recur when they're surgically removed. In each classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors area unit generally found in different places within the body, as well as the small intestine (a section of the little intestine), stomach, bones, skin, and different tissues. people that have colon polyps similarly as growths outside the colon area unit generally represented as having Gardner syndrome.

A milder style of familial adenomatous polyposis, known as chromosome recessive familial adenomatous polyposis, has additionally been known. individuals with the chromosome recessive style of this disorder have fewer polyps than those with the classic kind. Fewer than one hundred polyps usually develop, instead of a whole bunch or thousands. The chromosome recessive style of this disorder is caused by mutations in a very completely different cistron than the classic and attenuated varieties of familial adenomatous polyposis.

  1. Digestive system

Medical terms

  • Familial adenomatous polyposis (FAP) is a rare, inheritable condition caused by a defect within the adenomatous polyposis coli (APC) factor. {most people|most of the people|the factorral public|the majority} inherit the gene from a parent. except for twenty five to thirty % of individuals, the modification happens impromptu.

  • FAP causes further tissue (polyps) to make in your intestine (colon) and body part. Polyps also can occur within the higher epithelial duct, particularly the higher a part of your gut (duodenum). If untreated, the polyps within the colon and body part area unit possible to become cancerous once you are in your 40s.

  • Most people with familial adenomatous polyposis eventually would like surgery to get rid of the big internal organ to stop cancer. The polyps within the small intestine can also develop cancer, however they'll typically be managed by careful watching and by removing polyps often.

  • Some individuals have a milder style of the condition, referred to as attenuated familial adenomatous polyposis (AFAP). individuals with AFAP typically have fewer colon polyps (an average of 30) and develop cancer later in life.

  • Classic familial adenomatous polyposis, referred to as FAP or classic FAP, could be a genetic condition. It's diagnosed once someone develops over a hundred adenomatous colon polyps. associate polyp is a vicinity wherever traditional cells that line the within of a person’s colon kind a mass on the within of the enteral tract. The typical age for polyps to develop in individuals with FAP is within the mid-teens. The general public with FAP can have multiple colon polyps by age thirty five. If FAP isn't recognized and treated, there's an awfully high chance that someone can develop large intestine cancer.

Individuals with FAP even have an associated augmented probability of developing cancer in different organs, as well as the abdomen, gut, and also the exocrine gland and biliary tree. Risk for hepatoblastoma, a rare sort of liver disease, is augmented in young youngsters with FAP. A regionally aggressive, non-cancerous growth sort referred to as desmoid tumors/desmoid fibromatosis and a rare sort of brain tumor referred to as medulloblastoma also can occur in some people. Risk for papillose thyroid cancer is additionally augmented. 

Not all symptoms of FAP are cancer-related. Some additional features of FAP may include:

  • Osteomas, which are non-cancerous bony growths, usually found on the jaw

  • Extra, missing, or unerupted teeth

  • Congenital hypertrophy of the retinal pigment epithelium (CHRPE). This is an eye condition that is present at birth that does not affect vision, but it is a condition that an eye doctor may see during an examination with a special instrument called an ophthalmoscope.

  • Non-cancerous skin changes, such as epidermoid cysts and fibromas

  • Adrenal masses

Symptoms Familial adenomatous polyposis (FAP)

The main sign of FAP is tons of or perhaps thousands of polyps growing in your colon and body part, sometimes beginning by your mid-teens. The polyps square measure nearly one hundred pc guaranteed to turn into carcinoma or body part cancer by the time you are in your 40s.

Many patients with large intestine cancer expertise no symptoms within the early stages of the unwellness. Symptoms might not seem till the unwellness is in a sophisticated stage. Routine large intestine screening and understanding the chance factors square measure necessary.

Symptoms of large intestine cancer square measure just like symptoms of different colon diseases. If you experience the subsequent symptoms, create an arrangement with a Johns Hopkins Dr. The World Health Organization will accurately diagnose your condition.

  • Bloody stool

  • Unexplained diarrhea

  • A long period of constipation

  • Abdominal cramps

  • Decrease in size or caliber of stool

  • Gas pain, bloating, fullness

  • Unexplained weight loss

  • Lethargy and vomiting

Abnormalities in other areas of your body may indicate the presence of FAP. These abnormalities include:

  • Bumps or lumps on bones of legs, arms, skull and jaw

  • Cysts of the skin

  • Teeth that do not erupt from the gums when they should

  • Freckle-like spots on the inside lining of the eyes 

Causes Familial adenomatous polyposis (FAP)

  • FAP happens in one in ten,000 people. It's caused by mutations within the APC cistron that interfere with the performance of the supermolecule created by the cistron. This enables cells to grow in associated uncontrolled means and predisposes them to turning into cancers. Most patients with FAP transmitted a mutation in APC from one among their folks, World Health Organization were additionally affected with FAP. Concerning twenty fifth of the time the mutation happens once a patient is planned and during this case there's no case history of FAP within the folks.
  • Because patients of the World Health Organization are born with an associated APC mutation and have the mutation in each cell in their colon, they develop lots of and even thousands of those probably metastatic tumor adenomas. As a result of the mutation in each cell within the patient's body, alternative organs are liable to growths, either benign or malignant.
  • Bones (osteomas are benign bony tumors typically poignant the os and jaw).
  • The mouth (unerupted teeth, additional teeth and odontomas [benign tumors]).
  • The retinas of the eyes (congenital hypertrophy of the retinal pigment epithelial tissue [pigmented lesions on the retinas that typically don't interfere with vision]).
  • The soft tissue (tumors like epidermoid cysts and fibromas on the skin).
  • Fibrous tissue, like in scars (desmoid tumors).
  • The abdomen. concerning ninetieth of patients with FAP can have polyps within the abdomen. The foremost common abdomen polyps are benign fundic secreter polyps. abdomen cancer sometimes develops from abdomen polyps (less than a pair of the time).
  • The small intestine (the initial part of the tiny intestine). Nearly all patients World Health Organization have FAP can develop polyps within the small intestine, and atiny low proportion of those patients might have small intestine cancer as a result.

The small gut. generally polyps develop within the gut and extremely sometimes these become cancers. This can be terribly rare.

Thyroid secreter. Thyroid cancer is additional common in patients with FAP than the overall population, and double as common in ladies than men. It's an awfully benign version of the cancer (papillary cancer) and is nearly forever cured.

The brain. The foremost common brain cancers in FAP embrace medulloblastoma, astrocytoma and ependymoma. These are rare, even in FAP. FAP and brain cancer could be a kind of Turcot’s syndrome.

Familial adenomatous polyposis is caused by a defect in a gene that's usually inherited from a parent. But some people develop the abnormal gene that causes the condition.

Risk factors Familial adenomatous polyposis (FAP)

Your risk of familial adenomatous polyposis is higher if you have got a parent, child, brother, or sister with the condition.

The risks for cancer in FAP and AFAP can be reduced through the removal of colorectal and duodenal polyps. Studies are being conducted to find out if any medications may be effective in reducing these cancer risks.

Complications Familial adenomatous polyposis

In addition to colon cancer, familial adenomatous polyposis can cause other complications:

  • Duodenal polyps. These polyps grow within the higher part of your gut and should become cancerous. However, with careful observation, small intestine polyps will usually be detected and removed before cancer develops. 

  • Periampullary polyps. These polyps occur where the bile and pancreas ducts enter the duodenum (ampulla). Periampullary polyps might become cancerous but can often be detected and removed before cancer develops.

  • Gastric fundic polyps. These polyps grow in the lining of your stomach.

  • Desmoids. These noncancerous plenty will arise anyplace within the body however typically develop within the abdomen space (abdomen). Desmoids will cause serious issues if they grow into nerves or blood vessels or exert pressure on different organs in your body. 

  • Other cancers. Rarely, FAP can cause cancer to develop in your thyroid gland, central nervous system, adrenal glands, liver or other organs.

  • Noncancerous (benign) skin tumors.

  • Benign bone growths (osteomas).

  • Congenital hypertrophy of the retinal pigment epithelium (CHRPE). These are benign pigment changes in the retina of your eye.

  • Dental abnormalities. These include extra teeth or teeth that don't come in.

  • Low numbers of red blood cells (anemia).

How long can you live with FAP?

Finding out you have a life-threatening disease like familial adenomatous polyposis (FAP) can be overwhelming The first reaction is to ask how long you have to live This depends on how serious your case of FAP is and whether you decide to undergo removal of your colon rectum and some other organs Even with treatment the average life expectancy for someone with FAP is 20 years after diagnosis However this type of colorectal cancer typically takes several decades before it's diagnosed and treated because most people who have it don't show any signs or symptoms in their earlier years Regular screenings.

How do you know if you have familial adenomatous polyposis?

Familial adenomatous polyposis or FAP is a rare autosomal hereditary condition that causes the formation of multiple tumors in the colon and rectum The disease runs in families as an autosomal dominant trait Because DNA testing is available to everyone and affordable FAP can be detected early on If all family members are tested when they are still young adults there may be time to remove the affected organs before cancer develops Colonoscopies however have to be done regularly because most tumors start out as small growths called polyps Polyps can turn into cancerous tumor over time.

Prevention Familial adenomatous polyposis

Preventing FAP isn't doable, since it's AN hereditary genetic condition. However, if you or your kid is in danger of FAP thanks to a loved one with the condition, you'll want genetic testing and content.

If you have got FAP, you'll want regular screening, followed by surgery if required. Surgery will facilitate stopping the event of body part cancer or alternative complications.

Diagnosis Familial adenomatous polyposis (FAP)

A doctor might suspect FAP once multiple adenomatous polyps are found within the patient’s canal.

Anyone WHO has quite twenty adenomatous polyps in their intestine ought to have genetic testing and counseling. Genetic testing uses blood or a cheek swab to get deoxyribonucleic acid that's then tested to see if there's an associated APC chromosomal mutation. Once a mutation is known in a person, his or her relations are screened for that mutation. Patients and families with FAP can profit by connecting a hereditary carcinoma register.

You're in danger of familial adenomatous polyposis if you have got a parent, child, brother or sister with the condition. If you are in danger, it is important to be screened often, beginning in childhood. Annual exams will notice the expansion of polyps before they become cancerous.


  • Sigmoidoscopy. A flexible tube is inserted into your body part to examine the body part and sigmoid — the last 2 feet of the colon. For folks with a genetic designation of FAP or relations in danger WHO haven't had genetic testing, the yankee school of medical specialty recommends annual endoscopy, starting at ages ten to12 years. 

  • Colonoscopy. A flexible tube is inserted into your rectum to inspect the entire colon. Once polyps are found in your colon, you need to have an annual colonoscopy until you have surgery to remove your colon.

  • Esophagogastroduodenoscopy (EGD) and side-viewing duodenoscope. Two sorts of scopes are wont to examine your gorge, abdomen and higher parts of the tiny gut (duodenum and ampulla). The doctor might take away atiny low tissue sample (biopsy) for additional study. 

  • CT or MRI. Imaging of the abdomen and pelvis may be used, especially to evaluate desmoid tumors.

Genetic testing

A simple biopsy will verify if you carry the abnormal sequence that causes FAP. Genetic testing may additionally notice whether or not you are in danger of complications of FAP.

 Your doctor may suggest genetic testing if:

  • You have family members with FAP

  • You have some, but not all, of the signs of FAP

Ruling out FAP spares at-risk kids years of screening and emotional distress. for kids UN agencies do carry the sequence, applicable screening and treatment greatly scale back the chance of cancer.

Additional tests

Your doctor could suggest thyroid exams and alternative tests to find alternative medical issues that may occur if you've got FAP.

Treatment Familial adenomatous polyposis (FAP)

Because FAP can't be cured, the aim of treatment is to stop cancer and preserve a healthy, unaffected lifestyle for the patient.

People who have FAP can want examinations of the canal and different at-risk organs for the remainder of their lives.

At first, your doctor can take away any tiny polyps found throughout your endoscopy examination. Eventually, though, the polyps can become too varied to get rid of on an individual basis, typically by your late teens or early 20s. Then you may want surgery to stop carcinoma. you may conjointly want surgery if a polyp is cancerous. you'll not want surgery for AFAP.

Minimally invasive colorectal surgery

Your sawbones could arrange to perform your surgery laparoscopically, through many little incisions that need simply a sew or 2 to shut. This minimally invasive surgery sometimes shortens your hospital stay and permits you to recover a lot quickly.

Depending on your state of affairs, you'll have one in every of the subsequent kinds of surgery to get rid of half or all of the colon:

  • Subtotal colectomy with ileorectal anastomosis, in which the rectum is left in place

  • Total proctocolectomy with a continent ileostomy, in which the colon and rectum are removed and an opening (ileostomy) is created, usually on the right side of your abdomen

  • Total proctocolectomy with ileoanal anastomosis (also called J-pouch surgery), in which the colon and rectum are removed and a part of the small intestine is attached to the rectum

Follow-up treatment

Surgery does not cure FAP. Polyps will still type within the remaining or reconstructed components of your colon, abdomen and tiny bowel. counting on the quantity and size of the polyps, having them removed endoscopically might not be enough to scale back your risk of cancer. you'll want extra surgery.

You will want regular screening — and treatment if required — for the complications of familial adenomatous polyposis which will develop once body part surgery. counting on your history and therefore the form of surgery you had, screening might include:

  • Sigmoidoscopy or colonoscopy

  • Upper endoscopy

  • Thyroid ultrasound

  • CT or MRI to screen for desmoid tumors

Depending on your screening results, your doctor may additional treatments for the following issues:

  • Duodenal polyps and periampullary polyps. Your doctor could advocate surgery to get rid of the higher part of the little gut (duodenum and ampulla) as a result of these forms of polyps will reach cancer. 

  • Desmoid tumors. You may tend to use a mix of medicines, as well as NSAID medication, anti-estrogen and therapy. In some cases, you would like surgery. 

  • Osteomas. Doctors may remove these noncancerous bone tumors for pain relief or cosmetic reasons.

Potential future treatments

Researchers still appraise extra treatments for FAP. Specifically, the employment of pain relievers like painkillers and anti-inflammatory medication (NSAIDs), likewise as a therapy drug, square measure being investigated. 

Coping and support

Some individuals notice it useful to speak with others and the United Nations agency share similar experiences. take into account change of integrity of a web support cluster, or raise your doctor regarding support teams in your space.

  1. Bowel transplant

What you can do

Your time along with your doctor could also be restricted, thus attempt to prepare a listing of queries. For FAP, some basic inquiries to raise your doctor could include:

  • What are the chances that I will pass the condition on to my children?

  • How often will I need to have screening?

  • What kind of tests will my screening involve?

  • Will I need surgery?

  • If I need surgery, when will I need it?

  • What kind of surgery will I need?

  • Will surgery cure my FAP?

  • If not, what follow-up and treatment will I need?

  • How accurate is genetic testing?

General summary

  1. Preventing familial adenomatous polyposis is still research that is in the works. However there are several things you can do to reduce your risk: avoid smoking, maintain a healthy weight and eat a diet rich in fiber fruits and vegetables.

Familial adenomatous polyposis : Causes-Symptoms-Diagnosis-Treatment

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