Failure to diagnose hereditary colorectal cancer and its medicolegal implications - A hereditary nonpolyposis colorectal cancer case

PURPOSE: We describe a patient who had precancerous colonic symptoms and a positive family history of multiple occurrences of early-onset colorectal c ancer in her first-degree and second-degree relatives consistent with hered itary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal ca ncer diagnosis had not been made before her diagnosis of carcinoma of the c ecum with liver metastasis. She died at age 20, leading to litigation. Cont roversies about standards of care, their malpractice implications, and pert inent legal issues are discussed. METHODS: Review of the medical and family history was made by the expert witness (HTL) with appropriate documentatio n of the chronology of symptoms, as derived from depositions. These documen ts revealed that the patient's mother had repeatedly discussed with the car egivers her concern about the family history of colon cancer and the need f or appropriate surveillance. RESULTS: The patient's colonic symptoms progre ssed for a period of three years. Flexible sigmoidoscopy was performed by a nonphysician. The physician who or ordered the procedure considered this a ppropriate because isolated polyps were reported in the patient's father an d paternal uncle, which apparently led him to believe that the diagnosis wa s familial adenomatous polyposis. During litigation procedures, a pedigree was constructed and found to be consistent with hereditary nonpolyposis col orectal cancer. The case was settled in favor of the plaintiff before trial . CONCLUSION: It is essential to understand the natural history of heredita ry nonpolyposis colorectal cancer, inclusive of the need for surveillance c olonoscopy in patients at increased risk by virtue of their position in the ir family pedigree.