Familial adenomatous polyposis is a rare genetic condition caused by a defective APC gene. The majority of individuals with the condition inherit the condition, although about twenty-five to thirty percent of patients experience a spontaneous genetic mutation. Familial adenomatous polyposis makes unnecessary tissue form in the rectum and large intestine. Some patients also have polyps in the upper intestinal tract, particularly the upper portion of the small intestine. Though the condition doesn't start out cancerous, there is an extremely high likelihood untreated polyps will become cancerous later in life. Most patients with familial adenomatous polyposis eventually have their large intestine surgically removed to mitigate the risk of developing cancer.
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One of the most common and strange complications of familial adenomatous polyposis is dental abnormalities. Studies have indicated anywhere from seventy to eighty percent of familial adenomatous polyposis patients have abnormal dental development and lesions in the bones of the jaw. Some patients had impacted teeth other than their wisdom teeth. Others had extra teeth or teeth missing from their skeletons. Another common abnormality was fused roots in the molars. The presence of these conditions may be an early indicator of the disease, especially considering how commonly the two coincide. However, there hasn't been enough research conducted to comprehensively explain the symptoms. It's possible the abnormalities occur because the APC gene is heavily associated with beta-catenin. This protein is important for healthy tissue formation. If the APC gene functions improperly, it's possible this could lead to improper dental development in addition to other common symptoms.
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A large number of familial adenomatous polyposis patients have polyps develop in the duodenum, which is the first portion of the small intestine, placed immediately after the stomach. Studies conducted on familial adenomatous polyposis patients indicated between thirty and seventy percent of them had duodenal polyps at any given time. Over a patient's lifetime, the risk of developing these polyps becomes almost one hundred percent. The polyps eventually turn into cancerous adenomas, and when patients don't receive treatment for their disease, the leading cause of death is colorectal cancer. However, the second leading cause of death is cancer of the duodenum. Familial adenomatous polyposis patients have a risk of developing duodenal cancer that's one hundred to 330 times higher than the general population. The average age at which duodenal cancer develops is about fifty-two years old.
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Desmoids are another common complication from familial adenomatous polyposis. A desmoid tumor is a tumor that grows out of connective tissue, which is tissue vital for the flexibility and strength of muscles, ligaments, and bones throughout the body. There are two reasons desmoid tumors are so prevalent in familial adenomatous polyposis patients. The first is the APC gene is normally meant to stop tumor growth. It's responsible for telling cells when to stop reproducing. With a defective APC gene, cells throughout the body are prone to creating excess tissue, leading to tumors and polyps. As for the connective tissue, the APC gene is supposed to interact with beta-catenin protein. If this protein doesn't function properly, it can't help connective tissue form the way it's supposed to. Desmoid tumors generally aren't cancerous because they don't spread to other systems in the body. However, they can be aggressive and difficult to remove, and they also have a high rate of recurrence even after seemingly-successful removal surgeries. Symptoms vary widely depending on the location of the tumor, but the most common symptom is pain.
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Gastric Fundic Polyps
Gastric fundic polyps, which form on the stomach lining, are commonly found in familial adenomatous polyposis patients, though they're rare in the general population. The polyps don't usually cause symptoms, and they can sometimes go overlooked if an individual doesn't know they're at risk of familial adenomatous polyposis. In most cases, a doctor will discover stomach polyps during an exam about a different issue. Stomach polyps can form for reasons unrelated to familial adenomatous polyposis. When they're caused by familial adenomatous polyposis, they're referred to as fundic gland polyps. Though stomach polyps in the general population don't usually become cancerous, familial adenomatous polyposis patients are at a much higher risk of developing cancer due to stomach polyps. For this reason, the polyps are removed before they can begin to multiply and spread.
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Though periampullary polyps aren't as common as polyps in the rectum and colon, they have been known to develop. Some patients with familial adenomatous polyposis find their entire gastrointestinal system is compromised. The ampulla is the part of the gastrointestinal tract where the bile duct and pancreatic duct drain into the small intestine. Ampulla polyps are benign at first, but they can become cancerous as they grow. Even if the polyps aren't cancerous, they can lead to blockages in the bile or pancreatic ducts. In turn, this causes pancreatitis and bacterial infections. Ampullary polyps are usually diagnosed through an upper endoscopy and biopsy. Some noninvasive treatment methods can reduce or eliminate non-cancerous ampullary polyps., but if the polyp has become cancerous or too enlarged, patients will need to have it removed through traditional surgery.