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Gastroenterology (Expert Forum)
FAP diagnosis - which family members should be tested?
Answered by
Kevin Pho, MD - Internal Medicine
KevinMD.com
This forum is for questions regarding Gastroenterology issues such as Acid Reflux (GERD), Barretts Esophagus, Colitis, Colon/Bowel Disorders, Crohn's Disease, Diverticulitis/Diverticulosis, Digestive Disorders, IBS, Stomach Pain.
FAP diagnosis - which family members should be tested?
by his sister, Aug 29, 2003 12:00AM
My 32 yr old brother has just been diagnosed with FAP. It is most likely already malignant, based on clinical examination. Biopsy and CAT results are pending.
My parents are 56 and 59, no Hx of colon problems. They have each had clear sigmoidoscopies but never undergone colonoscopies. I understand that 20-30% of FAP is spontaneous, and we are guessing that is the case here, but I believe in rare cases attenuated FAP can present as late as the 60s, and sometimes only in the right colon. However, I am unsure of the exact relationship between attenuated and (standard) FAP. Can a person inherit the genetic disorder and present with (standard) FAP while the person he inherited from presents with attenuated FAP?
My brother has a 10 year old daughter (his only offspring). She has had cramps and diarrhea (no bleeding) for a couple of years. Tentative diagnosis last year of lactose intolerance, but dietary changes (including elimination of all lactose) made no changes in her symptoms.
I am 34, no Hx of medical problems.
My other brother is 27, some Hx of frequent, but not constant, cramping and diarrhea (no bleeding).
What is the connection between FAP and attenuated FAP? Based on this profile, what is your opinion on who of the 5 of us (our parents, me and my other brother, and my niece) should be tested? Which is more likely or beneficial ... colonoscopies or genetic testing?
Thank you for your time.
My parents are 56 and 59, no Hx of colon problems. They have each had clear sigmoidoscopies but never undergone colonoscopies. I understand that 20-30% of FAP is spontaneous, and we are guessing that is the case here, but I believe in rare cases attenuated FAP can present as late as the 60s, and sometimes only in the right colon. However, I am unsure of the exact relationship between attenuated and (standard) FAP. Can a person inherit the genetic disorder and present with (standard) FAP while the person he inherited from presents with attenuated FAP?
My brother has a 10 year old daughter (his only offspring). She has had cramps and diarrhea (no bleeding) for a couple of years. Tentative diagnosis last year of lactose intolerance, but dietary changes (including elimination of all lactose) made no changes in her symptoms.
I am 34, no Hx of medical problems.
My other brother is 27, some Hx of frequent, but not constant, cramping and diarrhea (no bleeding).
What is the connection between FAP and attenuated FAP? Based on this profile, what is your opinion on who of the 5 of us (our parents, me and my other brother, and my niece) should be tested? Which is more likely or beneficial ... colonoscopies or genetic testing?
Thank you for your time.
Doctor's Answer
by Kevin Pho, MD, Sep 01, 2003 12:00AM
, Sep 01, 2003 12:00AM
UptoDate has information regarding the questions you are asking.
Regarding attenuated FAP:
"An attenuated form of FAP has been recognized. It was originally referred to as "attenuated adenomatous polyposis" and later renamed "attenuated familial adenomatous polyposis". Affected patients have fewer than 100 colorectal adenomas and a delayed onset of colorectal cancer (on average delayed by 12 years) compared to those with classic FAP." (1)
Regarding screening family members in the setting of FAP:
"There have been no prospective controlled trials of gene testing, screening recommendations, or intensity of surveillance in FAP. Recommendations for genetic testing have been suggested in an official statement issued by the American Gastroenterological Association based upon consensus expert opinion. The following recommendations are consistent with the official guidelines, while providing additional details for addressing practical clinical issues.
Family members of patients with classic FAP, Gardner's syndrome, or Turcot's syndrome should be offered genetic counseling and testing if appropriate. At-risk children should usually be offered genetic testing around age 10 to 12. Genetic testing is not recommended in children prior to age 10 because it would not lead to a change in clinical care and may lead to problems with parental bonding, peer rejection, and poor self-image.
Gene carriers or at-risk family members who have not had genetic testing or are from families in whom the gene test is uninformative should be offered a flexible sigmoidoscopy or colonoscopy every 12 months starting at around age 10 to 12 and continuing until age 35 to 40 if negative. Classic FAP almost always involves the rectosigmoid so that sigmoidoscopy alone is adequate but many pediatric gastroenterologists are screening with colonoscopy." (2)
Followup with your personal physician is essential.
This answer is not intended as and does not substitute for medical advice - the information presented is for patient education only. Please see your personal physician for further evaluation of your individual case.
Thanks,
Kevin, M.D.
Bibliography:
1) Lawrence. Clinical features and diagnosis of FAP and HNPCC. UptoDate, 2003.
2) Bonis. Screening strategies in patients and families with familial colon cancer syndromes. UptoDate, 2003
Regarding attenuated FAP:
"An attenuated form of FAP has been recognized. It was originally referred to as "attenuated adenomatous polyposis" and later renamed "attenuated familial adenomatous polyposis". Affected patients have fewer than 100 colorectal adenomas and a delayed onset of colorectal cancer (on average delayed by 12 years) compared to those with classic FAP." (1)
Regarding screening family members in the setting of FAP:
"There have been no prospective controlled trials of gene testing, screening recommendations, or intensity of surveillance in FAP. Recommendations for genetic testing have been suggested in an official statement issued by the American Gastroenterological Association based upon consensus expert opinion. The following recommendations are consistent with the official guidelines, while providing additional details for addressing practical clinical issues.
Family members of patients with classic FAP, Gardner's syndrome, or Turcot's syndrome should be offered genetic counseling and testing if appropriate. At-risk children should usually be offered genetic testing around age 10 to 12. Genetic testing is not recommended in children prior to age 10 because it would not lead to a change in clinical care and may lead to problems with parental bonding, peer rejection, and poor self-image.
Gene carriers or at-risk family members who have not had genetic testing or are from families in whom the gene test is uninformative should be offered a flexible sigmoidoscopy or colonoscopy every 12 months starting at around age 10 to 12 and continuing until age 35 to 40 if negative. Classic FAP almost always involves the rectosigmoid so that sigmoidoscopy alone is adequate but many pediatric gastroenterologists are screening with colonoscopy." (2)
Followup with your personal physician is essential.
This answer is not intended as and does not substitute for medical advice - the information presented is for patient education only. Please see your personal physician for further evaluation of your individual case.
Thanks,
Kevin, M.D.
Bibliography:
1) Lawrence. Clinical features and diagnosis of FAP and HNPCC. UptoDate, 2003.
2) Bonis. Screening strategies in patients and families with familial colon cancer syndromes. UptoDate, 2003
Also, there is a line in your response referring to "gene carriers." I understand this to be an autosomal dominant disorder, implying that there would be no such thing as a non-disease-developing carrier ... if you have the gene, you have the disease, in other words. Am I understanding that wrong? Is it possible to "carry" the gene but never develop the disease (in a normal lifetime)?