Familial GI Cancers Unit

Editor's Mail Bag

Guest Editors:
Barbara Wendland, RPDt - Dietitian
Karen Witkowski, RN - Enterostomal Therapist
Zane Cohen, MD - Department of Surgery

Before I had my large bowel removed, I was constipated and ate lots of fibre. I kept forgetting to drink enough water and often ended up feeling bloated. Now, I can't eat too much raw fruit and vegetables or my bowel movements are loose. Can you suggest some other foods with fibre and how much I need to balance my diet? I still have my rectum.

Begin by introducing more easily dissolved fibre such as oatmeal, oat bran, barley, and tapioca. Oat products can be found in cereals, breads, and muffins. You can also incorporate them into ground meats, stews and casseroles. Barley goes well in soups and stews. Tapioca can be used in desserts as a thickening agent.

Fruits known to promote stool thickening are applesauce and bananas. Many raw vegetables and fruits are not well tolerated but are frequently easier to digest if cooked or stewed. As well, soups prepared from a variety of vegetables will provide essential minerals and vitamins from natural sources. You might also try juices prepared from vegetables or fruits.

Is it true that certain foods can trigger more bowel movements? Since my pelvic pouch surgery, I have bowel problems after too much sugar, coffee, and tomato juice.

The Pelvic Pouch operation involves the removal of the large intestine and lining of the rectum with the creation of an internal reservoir out of the last part of the small intestine. The average number of bowel movements after this surgery ranges from 4 to 6 movements per day. The specific frequency varies with each individual. Studies on postoperative patients have not pinpointed which foods might consistently be a problem. However, generous portions of simple sugars, i.e. table sugar, honey, jam, or sweets, can cause extra fluid to be drawn towards the sugar in the digestive tract. The result will be rapid transit of the sugars and fluid through the system which, in turn, causes loose movements.

Coffee is a major source of caffeine, a stimulant that increases the motility, or spontaneous movement, of the digestive tract, again resulting in loose bowel movements. Fresh tomatoes are often difficult to digest, particularly the skin. Research studies have not indicated tomato juice intolerance in patients with a pelvic pouch. Increasing the salt content, perhaps adding salt or a small amount of Worcestershire sauce, might help with digestibility.

How much fat does the Canadian Cancer Society recommend and is that the same as calories? I heard that there is a connection between fat and bowel cancer.

It is suggested that 30% of total daily calories should come from dietary fat. North Americans tend to generally consume 40 to 45% of their total calories from foods that are rich in fat content.

Major food sources of fat are dairy products not skimmed of fat; red meat which is not lean; bread/biscuits which are greasy (for example, croissants, doughnuts, muffins, iced carrot cake); and fats/oils (for example, butter, dressing, nuts). Fat intake, along with many other factors, has been linked to colon cancer. Reducing the daily intake of dietary fat will be a positive action in balancing your nutritional intake.

What is a food blockage and what can I do if I get one?

A food blockage is an accumulation of food particles in the intestine that are not digested and, therefore, are not passed through the ileostomy. With a food blockage, one or more of the following conditions may occur:

• Your stool may change from semiformed to liquid.
• The amount of stool may increase.
• Your ileostomy may function almost continuously.
• The stool may have a noticeable odour.
• You may have stomach cramps or pain.
• Your stomach may be bloated or feel full.
• You may feel sick or may vomit.
• Eventually you may not pass stool.

If you feel you have a food blockage:

• Relax
• Lie down
• Assume a knee-chest position
• Massage your stomach
• Take a hot bath
• Drink something warm

If these measures do not work, notify your doctor or go to the Emergency Department of your local hospital. A food blockage can be relieved quite easily by inserting a soft rubber tube into the stoma, or surgically created opening in the abdomen for the drainage of body wastes. The blockage may be flushed out with a saltwater solution.

Since my rectum was removed, I have had three food blockages with my ileostomy. Now I am afraid to eat anything which is not easy to digest. Can you help?

Rule #1 - All food that is consumed should be chewed well.

Rule #2 - Do not rush mealtimes. Allow time to eat at a moderate pace, enjoying the flavour and texture of your food.

Foods which will not cause obstruction are:

• Dairy products/substitute
• Meats, fish, poultry, eggs
• Breads and cereals without nuts or seeds
• Fats and oils used to flavor foods

Foods which might cause obstruction are from the vegetable and fruit groups. In particular, foods rich in insoluble fibre should be avoided at first: corn; nuts; spinach; cabbage; broccoli; cauliflower; and raw fruit/vegetables with skins, membranes, and seeds.

Plan meals around the foods you know will not cause an obstruction, using vegetable juices or soups or soft-cooked vegetables (for example, potatoes or squash) until your confidence increases. Fruits should be very soft such as ripe bananas or applesauce. As your confidence builds, more choices of fruits and vegetables should be introduced.

The skin around the opening of my ileostomy is very sore. I've tried different powders but nothing seems to work. Help!

There are many reasons why skin around the stoma can become sore and irritated. For example, it may be due to sensitivity to the materials in the appliance. There may be too large an opening in the appliance, allowing stool to leak underneath. Another cause may be leaving the appliance in place longer than the suggested time of 5 days. It is important to realize that irritated skin is not normal nor to be expected. A qualified nurse or doctor can help correct this problem.

I love to swim but I've been afraid my appliance will leak in the water. Can you suggest a safe method to try?

Today's appliances are very safe to use in the water. Some people feel more secure when they take waterproof tape and "picture-frame" the edges of their appliance. You may also find that you need to change your appliance more than once a week if you spend a lot of time in the water.

My husband and I would like to have a child. My surgery was done one year ago for familial polyposis. Is it dangerous to become pregnant with an ileostomy?

It is not dangerous to become pregnant with an ileostomy. Since you did not have bowel surgery, you may be more susceptible to a bowel blockage or obstruction. Signs of a bowel blockage include decreased stool output or no stool. You may also experience abdominal pain or cramping. A feeling of fullness, nausea, or vomiting may occur. As your belly changes in size and shape with the pregnancy, so too will your STOMA or opening. For this reason, a change in your appliance or stoma may be necessary.

I've developed small bumps on my stoma. Are these polyps? What should I do?

Small bumps on the surface of your stoma could be one of several things, the most common being scar tissue. This is caused by the spread of blood vessels which form granular-appearing buds during the healing process after surgery. Scarring can occur around the edge of the stoma where the intestinal lining and skin edge are separated by a small gap, this will fill in with scar tissue. Sometimes, inflammatory polyps or adenomas can form on the stoma. These require biopsy and examination under the microscope to determine whether further treatment is needed. These bumps can be removed by electrocautery using an electrical current through a wire loop of a scope and does not hurt since the stoma is almost completely insensitive to pain. Patients should have an annual examination of their ileostomy.

My mother has FAP and I have been talking with a genetic counsellor about taking a blood test to see if I have the FAP gene. She mentioned a new test to look for this gene. Can you explain how it works?

The clinical laboratory plays an important role in the detection of changes in the gene that leads to FAP. Though the laboratory and the patient rarely see each other, it is here that a variety of tests are performed to assess those people who are at risk for FAP. Testing begins with a relatively simple and noninvasive procedure - collection of a blood sample. Our blood contains certain types of cells such as white blood cells. All our cells have various components. Once the cells are separated from the blood sample, different tests can be performed on the components, such as genes, which act as our blueprint for life. Genes tell the cell to make proteins. The job of proteins is to keep the cell normal.

Think of a group of cells communicating with each other through Morse code. Inside each cell, our genes are packaged into DNA which is the code for protein. This code is transmitted as a message. The message is decoded by the receiver to produce the protein. However, when there is a bad connection, or a change in the DNA code, the full message does not get through. This results in a shortened or abnormal protein. Since the message is incomplete, the cell does not know how to act and begins to do things it is not supposed to do.

In our DNA testing laboratory, a new test has been developed to find these imperfect messages or proteins. The chances of finding mutations, or changes in the DNA code, are improved using this technology. In FAP, the damaged gene produces shortened proteins in the majority of patients, with or without a family history of the disease. Previous testing required more than one affected family member. This is sometimes difficult if family members are not available or if only one person in the family has FAP. Since a different technique is being used to test for these proteins, a new blood sample is needed. It is important to remember that a combination of tests may be used to determine individual risk for FAP. As we find out more about the genetic changes that lead to FAP, we can look forward to the laboratory contributing to preventive care for affected families.

Last year, I had an ileostomy after my rectum was removed for cancer. Since the operation, I developed a hernia around my stoma. Why did this happen?

Sometimes, after bowel surgery, a weakness in the abdominal muscles may cause a portion of the remaining bowel to break through. This can create pressure on the STOMA, or opening between the bowel and the surface of the body. One reason may be incomplete healing of the muscles. Another factor may be heavy lifting or straining. If the hernia is creating discomfort after eating or particular activity, minor surgery may be suggested to repair the defect.

Insuring carriers of inherited colorectal cancer genes

J.A. Lowden MD, PhD, FRCPC, Vice President and Chief Medical Director, Crown Life Insurance, Regina, Saskatchewan

The Human Genome Project is perhaps the most exciting collaborative effort of scientists and engineers since the race to the moon in the 1960's. New science, new technologies and an incredible accumulation of new data pour forth from laboratories around the world at a rate far exceeding the original plan. They bring more specific diagnoses, better prospects for genetic counseling and opportunities for new therapies but these developments also bring concerns to bioethicists, to legislators, to consumer activists and to much of the lay public who feel the new knowledge may be used to the disadvantage of some. In particular, the advances bring concern to families who know they are at risk of carrying certain mutations.

The new genetic tests discovered under the auspices of the HGP may predict diseases which will occur in the future in people who are apparently well when the test was conducted. They may identify individuals who are presymptomatic but will certainly become ill in time, or they may identify those who are merely predisposed to a disease and may or may not succumb to it. The genes which cause inherited forms of colorectal cancer, hereditary nonpolyposis colon cancer (HNPCC) and familial adenomatous polyposis (APC), are transmitted as autosomal dominants and result in bowel cancers in a large percentage of those who carry mutations. They are thus predisposing, not presymptomatic, mutations.

As these tests become available the question arises, who wants to know this genetic information about their personal future and what will, or can, they do about it? To many, the burden of knowledge about their health in later years is too complex to handle. They would rather wait and find out when it happens. Others, however, are eager to know so they can make more effective life plans. Knowledge of one's status as a carrier of an HNPCC or APC mutation can be life-saving when the information is used to plan a regular program of monitoring with occult blood samples and colonoscopy. Avoidance of genetic testing may lead to overuse of colonoscopy or perhaps to a late diagnosis when little can be done to mitigate the problem.

Some at-risk individuals avoid genetic testing for HNPCC or APC mutations because of concerns about unfair discrimination by employers, insurers and others who might acquire access to their genetic status. This is a real problem because these tests can save lives. Hereditary colon cancer is a preventable disease and as a life insurer, I am clearly interested in saving lives. People who avoid having tests, may avoid the other preventative measures like colonoscopy and thus risk an unfortunate early death.

Life insurance is sold to provide financial protection against unanticipated early loss. Some people will die before they reach a normal life expectancy and insurance coverage will provide a benefit to their survivors. Insurance policies are priced recognizing that these early claims will be made. Insurers try to avoid expected early claims by reviewing the health status of their applicants. They assess the risk for each policy they offer and determine how that life risk compares with that of a standard group of people of the same age and gender. To do so they need to know as much about each individual's specific risks as possible. When an applicant has a greater than normal risk, they are charged a larger premium or they may be declined. In practice over 90 per cent of life insurance applicants are offered policies at standard rates. About 5 per cent are rated and usually fewer than 3 per cent are declined.

Before the advent of genetic testing for hereditary colon cancer, it was common for insurers to decline or rate all applicants from high risk families. If the individual came from a family with three or more first degree relatives with colon cancer, their risk could be as high as 50 per cent and the mortality risk was at least 25 per cent. No insurance policy is priced to cover those costs. Furthermore, when the information is known to the applicant but denied to the insurer, the applicant might well be inclined to purchase excess insurance because they anticipate an early claim.

Today things are changing. Attending physicians are now considering performing genetic tests in their patients from high risk families. People want to know if they are at risk of developing the same disease that their mother had and they ask their physicians to get them tested. Half the children in these families will not carry the mutation which affected their parent. They are clearly not at risk for this type of bowel cancer and are considered as standard risks by insurers. The other half are at risk but I believe that they are insurable.

Early diagnosis of colon cancers definitely leads to better prognosis. Colon cancers are usually slow growing and they can be visualized by colonscopy. While there are other cancer risks in some patients with these mutations, they are not frequent and from a life insurance perspective, can be covered by modest premium increases. When they adopt simple prevention strategies, carriers of HNPCC and APC mutations are insurable.

What about doing screening tests on all insurance applicants for these mutations? Would this not identify many people who do not realize they are at risk and thus save many lives? This point has been debated in the scientific and insurance literature for the past few years but the numbers make it unlikely that any company will follow such a course. Hereditary colon cancers occur in about 1:200 individuals, most of whom know their own risk. Reduced penetrance (people who carry the mutation but do not get cancer), early parental death and unknown parentage may obscure the heritable nature of the disease in some families but when the prevalence of a disease is this low, the predictive value of any test falls and testing of all applicants would result in far more false positive tests than true. False positive tests would cause untold concern an cost more than the protective value they would add. It is unlikely that insurers will ever consider doing HNPCC or APC tests on all their applicants.

Support Groups and Programs

Leeds Castle Polyposis Group

In 1985, 11 FAP Registries met in an actual castle in Kent, England, and formed an international group, the Leeds Castle Polyposis Group. Dedicated doctors and researchers were looking for ways to improve the quality of life for patients and their families. The challenge of treating some of the associated growths of FAP was the impetus for this unique body which was to meet every two years. By 1993, it had swelled to 53 members from 21 countries who assembled in Copenhagen, Denmark, for the first time since the discovery of the FAP gene in August 1991.

Several areas were highlighted, for example, the treatment of noncancerous locally invasive tumours called desmoids, which may occur within the abdomen or abdominal wall about 1-3 years after colectomy. Studies have shown that up to 12 percent of patients may develop a desmoid. Many women may be unaware that desmoids are stimulated by hormones and often affect women, particularly after childbirth. For a woman who already has a desmoid and becomes pregnant, the tumour tends to enlarge and can create problems. Occasionally, a desmoid may develop prior to surgery. It is important to have an abdominal x-ray called a CAT-scan to rule out the presence of a desmoid when deciding on the type of bowel operation. It may not be possible to plan a pelvic pouch procedure in the presence of a desmoid. We know that in some families with FAP, more than one family member may have a desmoid and researchers are now looking for genetic markers to predict who will be affeted and to learn how to prevent it or minimize its effects. However. there is no fixed pattern to how desmoids behave or grow. Different medications are being tried to try and either shrink a patient's desmoid or cause it to stop growing.

Another vital concern was that patients who have had their large intestine removed might ignore the need to check for polyps in the small intestine. A large Scandinavian study found that although 64& of 309 patients had duodenal adenomas, only 0.3% developed a duodenal cancer. The likelihood of developing polyps in the duodenum appears to increase with age, unlike polyps in the large bowel. Some of the questions being discussed include how often one should be examined; what form of medication is effective in avoiding surgery; and which genetic markers can predict who is at higher risk for duodenal polyps or duodenal cancer. Research into finding molecular clues will mean that not everyone with FAP will have to be checked as often or as extensively.

International collaborative group for HNPCC

In the fall of 1993 and 1994, a meeting of doctors and researchers specializing in HNPCC took place. One of the research findings discussed was the association sebaceous (se-BA-shus) gland or other skin tumours and cancer of the large bowel, as well as other internal cancers. The diagnosis is generally made by a dermatologist, or skin specialist, who may then refer the patient for colorectal screening. This rare disease is called Muir-Torre syndrome after two doctors who recognized the inherited nature of the disorder. Each child and brother and sister of an affected person has a 50% risk of developing Muir-Torre syndrome. Once someone is diagnosed with this condition, it is important to find out about other relatives who have had cancer. A genetic counsellor will develop a family tree to ensure that at-risk family members have an opportunity to learn of their risk and to undergo appropriate screening. Recent studies indicate that HNPCC and Muir-Torre syndrome share a common genetic basis.

Pelvic Pouch Support Group

The United Ostomy Association, in association with Mount Sinai Hospital, would like to announce a support group for patients who have undergone pelvic pouch surgery as well as for their families. Both in-patients and patients in the community are welcomed. The goal is to offer both educational and emotional support through a visitor training program; patient literature; and community resources. For further information, please contact the Enterostomal Therapist 416-586-4800 Ext. 5359 or visit www.zanecohencentre.com/ibd/for-patients/ibd-support-network

Look Good...Feel Better Program

The Look Good Feel Better Program is a free service is being offered at six Ontario centres, including Mount Sinai Hospital (see our workshop schedule), for patients with cancer who are coping with changes from the disease and its treatment.Free beauty supplies and wig demonstrations are available from trained professionals. The Hospital provides room space and professional nursing care for each session. A charitable organization, the Canadian Cosmetic, Toiletry and Fragrance Association, supplies all products. Patients treated for cancer at other hospitals are welcome to participate. The goal of the program is to help with the side effects of chemotherapy and radiation by giving patients new skills to use in a practical way.

If you are interested, or know someone who may benefit from the Look Good...Feel Better Program, please call the Mount Sinai Hospital Oncology Nursing Office at: 416-586-4992. A video, "Facing Cancer with Confidence," has been developed for patients who want to see actual cosmetic and fashion suggestions. There is a toll-free number for Canadians: 1-800-387-9954. You may also visit their website at www.lookgoodfeelbetter.ca

Familial Adenomatous Polyposis

John Parker, MD - Ophthalmologist

It is a curious fact that half of the people with FAP have spots in the back of their eyes (retina) which look like freckles and may signal the disease years before polyps (adenomas) develop in the colon. These are not tumours but harmless or benign patches of pigment which exist at birth and do not grow. They do not affect the eyes and how we see. For this reason, patients and their families should not be worried about having an eye test, even though it may seem like just one more investigation.

There is a tendency for affected family members to have similar amounts of eye freckling. Some may have a great many while others have none at all. These spots are not visible to the naked eye but must be diagnosed by an eye specialist or ophthalmologist who uses eyedrops to dilate the opening at the centre of the eye (pupil) along with a mirror attached to a scope for examining the retina. Nothing is placed inside the eyes and the effect of the drops wears off after several hours. Driving is not permitted and close reading is discouraged during this period.

Patients need to know that an eye examination for glasses, cataracts, or glaucoma will not necessarily pick up these spots which are easily missed. Some freckles may be less than 1/10 mm. Since FAP is a rare disease, the ophthalmologist, unlike the optometrist, will recognize the association with FAP and freckles. Other types of spots in the retina can be confused with these freckles, emphasizing the need for an experienced observer. Some patients may see their eye doctor for other problems and are told there is nothing "wrong" but the correct testing may not have been done. Part of the Famlial GI Cancer Registry's role is to refer patients and their children or siblings to ophthalmologists across Canada who are interested in FAP.

One very important benefit of this research is that an eye test can help families better understand their risk for FAP. Although genetic testing with blood samples can often be used successfully in large families, sometimes the test does not work well, for example, when there is only one affected person in a family or paternity is uncertain. However, when combined with the results of the DNA analysis of the blood samples, it may be possible to reduce much of the anxiety facing parents about the risk to their children. Sometimes, it can be extremely difficult to adapt to FAP when there is no family history to fall back on and counselling can make a difference.

Parents should be aware that a child who has no eye freckles may still have FAP. Bowel screening or Sigmoidoscopy is recommended until the risk is clarified. One can have FAP with or without associated growths such as skin cysts, bony growths, and eye freckles. The age of the child must be considered before having the eye test since no bowel investigation is undertaken before puberty, unless the child has bowel symptoms such as bleeding or change in bowel habit. It has been noticed that children with eye freckles tend to develop adenomas earlier than affected youngsters without such spots in their eyes. Finding out about new research and what it means to your family will allow you to gain valuable information about your child's risk.