P38: High prevalence of benign and malignant thyroid disease in patients with familial adenomatous polyposis (FAP)

R. Hüneburg1,5, P. van Heteren1,5, S. Aretz2,5, H. Ahmadzadehfar3, D. Pantelis4,5, C. Strassburg1,5, J.Nattermann1,5.

1 – Department of Internal Medicine I, University Hospital Bonn. 2 – Institute of Human Genetics, University Hospital Bonn. 3 – Department of Nuclear Medicine, University Hospital Bonn. 4 – Department of Surgery, University Hospital Bonn. 5 – Center for Hereditary Tumour Syndromes, University Hospital Bonn.


Patients with FAP are at a high risk to develop colorectal cancer and other gastrointestinal malignancies. In retrospective series, an increased prevalence (0.4-2%) of thyroid cancer has been reported in these patients, whereas only little data is available regarding benign thyroid disease. Here, we studied the prevalence of pathological findings in FAP patients.


Thyroid examination, consisting of palpation, ultrasound, and blood analysis (TSH, fT3 and autoantibodies), was offered to 67 FAP patients as part of their surveillance protocol.


57/67 patients (85%) agreed to undergo thyroid examination (33 women, 24 men; average age: 34 years (15-66 years)), and thus were included in our study. An APC mutation was known in 54/57 patients, the remaining patients had not been tested.

Papillary thyroid cancer was found in 3/57 (5%) patients, including two women (aged 19 and 28 years, respectively) and one man (23 years). Goiter was observed in 13 patients (23%), and autoimmune thyreoditis was diagnosed in six patients (10.5%).


Patients with FAP are at a high risk for benign or malignant thyroid disease independent of gender, which underscores the importance of regular thyroid examination in these patients.