Management of Individuals at Increased Hereditary Risk

Cowden Syndrome

Current recommendations for the management of Cowden syndrome focus on primary and secondary prevention of breast cancer. Further, annual examinations beginning at age 18 to detect skin changes and monitor the thyroid gland for abnormalities are recommended. Those at high risk should receive a baseline thyroid ultrasound at age 18 and consider receiving this annually thereafter. Individuals should also consider undergoing annual dermatological examinations. Options for prophylactic mastectomy should be discussed on an individual, case-by-case basis. Both men and women identified as Cowden patients should have clinical breast examinations beginning at age 25. Further, women should be encouraged to conduct breast self-examinations monthly. Women with Cowden should have an annual MRI and mammogram at ages 30 to 35 or 5 to 10 years earlier than the earliest known breast cancer diagnosis in a family member. Pre-menopausal women should receive annual blind endometrial suction biopsies starting between ages 35-40 or 5 years before the earliest diagnosis of endometrial cancer in a family member. Postmenopausal women should receive an annual endometrial ultrasound.