Familial Adenomatous Polyposis, which is abbreviated to FAP, is a genetic condition resulting in a mutation to the Adenomatous Polyposis Coli (APC) gene. The APC is a tumor suppressor gene located on the 5th chromosome. Mutations to this gene result in an increased risk of developing colon and other types of cancers throughout life. In addition to classic FAP, there are also three subtypes called attenuated FAP (AFAP), Gardner syndrome, and Turcot syndrome.
Classic FAP is an inherited condition in which the genetic mutation is passed from family member to family member. A child of a parent with FAP has a 50% chance of inheriting the mutation. However, approximately 30% of cases are de novo, which means it develops independent of previous family history.
FAP is typically diagnosed through genetic testing when there is a positive family history, or when a person develops more than 100 adenomatous colon polyps found on a routine colonoscopy.
People with FAP typically begin to develop polyps in the mid-teens. By the age of 35, more than 95% of people with FAP will have multiple colon polyps. Unfortunately, if FAP is not diagnosed and treated, there is almost a 100% chance that a person will develop colorectal cancer before they reach 50 years old.
Less than 1% of all colorectal cancer is thought to be due to FAP. Most colorectal cancer are due to environment and lifestyle factors, which can lead to spontaneous genetic mutations and is not related to FAP or other known inherited genetic changes.
Ref: cancer.net/cancer-types/familial-adenomatous-polyposis/1
FAP Case Study:
42 year old female, previously diagnosed with Classic Familial Adenomatous Polyposis (FAP) as a young adult. She was tested and diagnosed due to her father being diagnosed with FAP and unfortunately passing away from colon cancer at 41 years of age.
Prior to becoming a patient almost 3 years ago, she had a colonoscopy, which should no sign of cancer, but confirmed hundreds if not thousands of polys all throughout her colon.
The only treatment option offered to her was of course a Colectomy, which is a surgical removal of the colon. This would have resulted in her having a colostomy bag, which she did not want so she was putting off the inevitable. There are no conventional pharmaceutical treatment for this condition. The intention is to prevent the formation of colon cancer, so surgery is the only option.
This Patient was referred to me by a family member simply to discuss possible treatment ideas. After conducting some research on FAP, a protocol consisting of hormones prescriptions, specific nutrients, botanicals and probiotics were started.
The patient had followed the protocol consistently with very little changes for roughly 2.5 years until her most recent Colonoscopy, which was in December 2015. The colonoscopy showed no evidence of any colon polyps. After 2.5 years she completely polyp free, which more importantly means she still does not have cancer.
At the age of 42, she has over a 90+% chance of having cancer by now, but she is still completely polyp free, which makes her cancer free, at least for the moment. The disappearance of her colon polyps is not supposed to happen. Anyone with Classic FAP like her, are supposed to develop cancer in 100% of cases typically in the early to mid forties.
The post Familial Adenomatous Polyposis – A Genetic Miracle Case Study | PYHP 010 appeared first on .
Discover the common and unfamiliar symptoms that you might be experiencing. Get access to cases of real women with hormonal conditions.
In this episode, we return to a listener’s question regarding thyroid dosing in perimenopause. In our previous episode, we answered Tracy’s question about taking estrogen in perimenopause. Tracy also asked us an additional question about her thyroid doses. Tracy does not have a thyroid gland and has been noticing her dose is continually increasing as […]
In this episode, we discuss a listener’s question regarding perimenopause and estrogen hormone replacement. Tracy is concerned because she is still having a period but also has symptoms of low estrogen. She is not sure if she is a candidate for estrogen therapy since she is still cycling. Tracy’s Question: Hi- you’ve discussed in past […]
In this episode we discuss Jenell’s question she submitted on our website (Ask the Dr). Jennell has been having terrible anxiety since entering menopause and it is really affecting her quality of life. Jenell’s Question: Since starting menopause, I’ve had debilitating anxiety, especially bad in the morning. By evening, It practically goes away. I’m 54 […]
In this episode, we discuss a listener’s question. Amanda is 50 years old and starting to have menopausal hot flashes and weight gain. However, she is most concerned about the heart palpitations she is having. Amanda has had a cardiovascular workout and does not have heart disease. Most people might not be aware, but feeling […]
In this episode, we discuss a listener’s question about perimenopause. ‘Maggie’ is in her 40’s and experiencing severe insomnia with anxiety. She has tried supplements and different doses of progesterone with minimal results. She is having so many ups and downs with her insomnia, anxiety, and hormones. She is wondering how long this is going […]
In this episode, we talk about Mary’s hormone concerns after ovarian failure. She is only 34, and in the last 7 years since her ovarian failure has tried many hormone replacement options, all without the success she was looking for. Let’s Read Mary’s Question: When I was 27 years old I was diagnosed with iatrogenic […]