Lynch syndrome: Reclaiming power

No one wants to learn they're at higher risk for cancer. But it's not all bad news for people with an inherited condition called Lynch syndrome, who can use their knowledge to prevent cancers from developing or progressing and empower family members to do the same.

About one in every 280 Americans — 1.1 million people in all — has the disorder, according to the National Cancer Institute. Lynch syndrome is the most common cause of hereditary colorectal cancer, and people with it are also much more likely to develop a range of other malignancies — including uterine and ovarian cancers, which only affect women. They're also likelier to develop cancer before age 50.

"Often, people don't understand that this isn't a death sentence," says Dr. Leslie Garrett, division chief of the Gynecologic Oncology Program at Harvard-affiliated Beth Israel ­Deaconess Medical Center. "They get this diagnosis and feel they're a walking time bomb. That's not necessarily the case."

Indeed, not everyone with the condition will develop cancer. And those who do may respond better to immunotherapy and certain other types of cancer treatment because their tumors are more sensitive to them.

"I sort of see this as a great opportunity," Dr. Garrett says. "Most patients who get cancer never see it coming. It's scary thinking about this, but there are measures you can take."

Genetic linchpins

Lynch syndrome is caused by any of several inherited gene mutations that are passed down from either your mother or father. If you have Lynch, your parents, children, and siblings have a 50% chance of also having it.

Some people are tipped off that they may have the syndrome because many of their family members have had colorectal or uterine cancer, especially if they were diagnosed before 50. That's why genetic testing — which requires a simple blood or saliva test — is so important, Dr. Garrett says. Once a mutation is found in one family member, others can be tested for the same one.

Genetic counseling is also crucial, since it can help you grasp your likelihood of developing cancer and offer information and support. "Understanding what these results mean is the most important thing," Dr. Garrett says.

Family members often disagree about genetic testing, with some members wanting to know if they're predisposed and others not. To smooth conversations with relatives about Lynch syndrome, Dr. Garrett suggests these tactics:

Speak in empowering language. "Say to them, 'Maybe you eat well and exercise, but here's another way you can reduce your risk of getting a cancer,'" she advises. "A lot of people don't have the opportunity to do that."

Emphasize stress relief. "If your sister gets tested, for instance, and she's negative, she doesn't even have to tell her kids, because it stops with her," Dr. Garrett says. "Lynch syndrome doesn't skip generations. So you can get subsequent generations 'out of jail' by testing."

Proactive steps

Everyone with Lynch syndrome should be alert for signs of colorectal cancer, including a change in bathroom habits, blood in the stool, and unexplained anemia. Women with the condition should also watch for symptoms suggestive of uterine or ovarian cancer, including abnormal vaginal bleeding, especially past menopause; pelvic pain or pressure; abdominal pain or cramping; or bloating.

Cancer prevention efforts are another form of vigilance. They include frequent screenings, such as colonoscopies starting either at age 30 or 10 years before the earliest colorectal cancer occurred in a family. Other screening methods not used in women at average risk for cancer may be recommended in women with Lynch; examples are transvaginal ultrasounds to check pelvic organs and blood tests to measure a protein called CA-125 in women with a growth on an ovary.

Dr. Garrett advises women with Lynch syndrome to undergo risk-reducing surgery to lower their risk for gynecologic cancers. This typically means a total hysterectomy and bilateral salpingo-oophorectomy — a procedure to remove the ovaries, fallopian tubes, uterus, and cervix — between ages 35 and 40 unless a woman is planning another pregnancy.

"If you're 35 and want another child, we would come up with a plan that makes sense for you, including frequent pelvic exams, watching for symptoms, and making sure that if something feels wrong about your body, you don't ignore it," she says.

Women with Lynch can also choose to undergo in vitro fertilization, implanting only unaffected embryos so their children won't have the condition. "I try to stress this to my patients: we're giving you some power," she says. "You can decide which strategies make the most sense for you."

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