For the (Medical) Record: What I Wished My Doctors Knew About Familial Adenomatous Polyposis | oneFAPvoice

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For the (Medical) Record: What I Wished My Doctors Knew About Familial Adenomatous Polyposis

Over the years, you’ve been judiciously putting your extensive medical training into practice and saving numerous lives in the process. You’ve found your rhythm in the medical world and then all of a sudden, someone with Familial Adenomatous Polyposis walks into your office. What are the odds? What now? Fear not! We know there isn’t enough coffee in the world for every disease (especially the rare ones) to get sufficient coverage in medical school or even residency so, we’ve compiled this list of key details about F.A.P. that will improve your patient’s experience under your care (and should you think this guide isn’t relevant to your practice as you’re not a GI, see the first section of the guide).


Think Outside of the Colon

Many doctors think F.A.P.= Colon Cancer. They’re not wrong, classic F.A.P. carries a 100% chance of developing colon cancer. However, F.A.P. doesn’t stop there. Ironically, F.A.P. requires a colon to account for its multifaceted potential manifestations. F.A.P.: Colon cancer, rectal cancer, desmoid tumors, CHRPE, dental abnormalities, osteomas, thyroid cancer, duodenal cancer, adrenal tumors, epidermoid cysts, fibromas, pancreatic mucinous adenocarcinomas, hepatoblastoma, and medulloblastoma. For a good overview of F.A.P. and its many known complications to date, check out this comprehensive article and ACG Clinical Guideline (page 236-242).

Equating F.A.P. solely with colon cancer discourages patients from getting other necessary screenings which results in later detections of extracolonic F.A.P. malignancies and can lead to a colectomy plan not optimized for the individual patient (see “Benign Does Not Equate to Happy” below). If you take anything from this article, please let it be that F.A.P. is not just colon cancer (and make sure your patients with F.A.P. know this as well).


F.A.P.-related Complications and their Prevalence aren’t Set in Stone

You and your colleagues have gotten really good at reducing the incidence of colorectal cancer in patients with F.A.P. through early detection and prophylactic colectomies. Fortunately, this means more F.A.P.ers are living longer (thank you!). Unfortunately, they’re living long enough to encounter other potential manifestations of F.A.P. For this reason, this 2011 study utilizing the oldest polyposis registry in the world actually suggests that colorectal cancer is no longer the issue in F.A.P.

As we’re still on the early side of seeing F.A.P.ers frequently outlive their risk for colorectal cancer, it’s possible that in the coming decades, we’ll start to observe a higher incidence of extracolonic manifestations (and that previously unseen or seemingly coincidental issues will need to to be considered F.A.P.-related). For example, the prevalence of thyroid cancer in F.A.P. is thought to be higher than previously reported and microcystic stromal tumors and bilateral Sertoli cell tumors have recently been proposed as new F.A.P. complications. Additionally, constantly improving technology increases our ability to detect F.A.P. abnormalities earlier and more frequently as noted in this study on the increasing severity of duodenal polyposis in F.A.P. over the years.

Although it’s tempting, try not to automatically dismiss a patient’s inquiry about whether a new health issue is the result of F.A.P. especially if the Wnt/Beta-Catenin pathway is involved. Instead, try “Currently, this is not a known manifestation of F.A.P.” or “I’m not aware of F.A.P. presenting this way” in combination with an offer to do a quick literature search when possible.


Dentists and Ophthalmologists can Open Our Eyes and Help Us Sink Our Teeth Into Our Diagnosis

F.A.P. really is an interdisciplinary disease. While typically benign, Congenital Hypertrophy Retinal Pigment Epithelium (CHRPE) of the optic fundus and certain dental abnormalities usually present before intestinal polyposis in the trajectory of F.A.P. and thus can be tremendously valuable as early diagnostic tools. Dentists, maxillofacial surgeons and ophthalmologists, if you spot osteomas or supernumerary teeth or CHRPEs during your respective routine exams, please inquire about the patient’s family history of colon cancer and refer them to a GI! Patients will think you’re magical for predicting the development of cancer in an entirely different organ than your specialty (and will thank you for extending their life)!


Benign Does Not Mean Happy

We know, at this point, you’re rolling your eyes thinking “I get it, F.A.P. affects way more than just the colon” (which is awesome from a patient perspective). Nonetheless, one extracolonic manifestation needs its own mention. Although technically classified as benign, desmoid tumors are the second biggest cause of fatality in people with F.A.P. and come with a lot of the same baggage as a malignant tumor. Consequently, these tumors are not happy ones that can be viewed without concern (as some F.A.P.ers have been told by their medical team). In fact, their benign classification has been challenged as dangerous since it can lead doctors and patients alike to overlook the severity of the disease and result in undertreatment.

An F.A.P. patient’s risk factors for desmoid tumors (such as a family history, female gender, and mutation site) should factor into the timing and type of any surgery (including a colectomy) performed as well as the decision for a female to get pregnant and/or take oral contraception.


The Genotype-Phenotype Connection

Speaking of mutation site, although the exact specifics are still being hammered out, most agree that a genotype-phenotype link exists in F.A.P. Here’s a shout out to our genetic counselor friends: Please make sure your patient (and their medical team) know their specific mutation site (or at least the general region of the mutation) and whether it has any clinically relevant implications. Again, this genotype-phenotype connection should factor into treatment and screening decisions.


Our Common Issues Require Unique Considerations

They don’t say F.A.P.ers are roughly 1 out of 10,000 for nothing. F.A.P.ers are a rare breed which means that their complications and required screenings, no matter how routine they seem, can’t always be treated exactly like those of the general population. For example, in addition to the usual front viewing scope, regular upper GI screenings for patients with F.A.P. require a side-viewing scope (and sometimes, a capsule endoscopy or enteroscopy) due to their risk of ampullary cancer. Additionally, it’s thought that F.A.P. associated desmoid tumors and papillary thyroid cancer differ from their respective sporadic incidences.


Work with Us

First things first, F.A.P.ers completely understand that you have a plethora of other patients demanding your attention. Here’s the thing though, (unless the patient also has an MD), we’re the only patient we have to focus on and thus have more time and incentive to stay up to date on the current F.A.P. research. You also have to understand that you’re working with a patient that has frequently heard “I had a question on an exam on medical school about your diagnosis” from residents all the way through attendings. There’s a good chance your patient with F.A.P. has had more F.A.P. tests than you had throughout all of medical school.

We’re not asking you to equate our overall medical knowledge with yours, we just hope you’ll acknowledge that there’s a chance we have more experience with the intricacies of this one particular disease and the increased role we need to play in our treatment. You’re overworked and from a business perspective, the last thing you need is to spend extra time with an “ornery” patient. However, a client is more likely to keep working with you if you’re willing to work with them (and we know how much doctors like keeping us rarities around so that, with our permission, they can show our oddities off to unsuspecting medical students). If you need some extra proof about the importance of mutual collaboration between doctor and rare disease patient, check out this study.

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