Gastrointestinal disorders

Genetic gastrointestinal disorders affect every organ in the digestive system. This chapter provides an overview of inherited gastrointestinal cancer/polyp syndromes (e.g., Lynch syndrome, familial adenomatous polyposis, hereditary diffuse gastric cancer, gastrointestinal stromal tumors, pancreatic cancer), causes of hereditary pancreatitis, and inherited liver diseases (Wilson disease, hereditary hemochromatosis). We outline the key clinical features, information on clinical evaluation, management strategies, and recommendations for genetic testing for each disorder. A key cross-cutting theme for all of the disorders is the need to have a high clinical suspicion to ensure a timely diagnosis for implementation of appropriate management for both the affected individual and at-risk family members.