APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis

The canonical Wnt pathway plays a key regulatory role in osteoblastogenesis and bone mass acquisition through its main effector, β‐catenin. Adenomatous polyposis coli (APC) represents the key intracellular gatekeeper of β‐catenin turnover, and heterozygous germ‐line mutations in the APC gene cause familial adenomatous polyposis (FAP). Whether APC mutations affect bone mass has not been previously investigated. We conducted a cross‐sectional study evaluating skeletal status in FAP patients with a documented APC mutation. Twenty‐two FAP patients with a mean age of 42 years (54.5% women) were included in this study. Mean bone mineral density (BMD) Z‐scores were significantly increased above normal at all measured sites: lumbar spine (p