D13.91

Clinical Causes: Inherited genetic mutation in the APC gene Autosomal dominant pattern of inheritance, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder Family history of FAP or related polyposis syndromes

Key Symptoms: Presence of numerous polyps in the colon and rectum Rectal bleeding or blood in the stool Unexplained weight loss Abdominal pain or cramping Changes in bowel habits, such as diarrhea or constipation Difficulty with bowel movements due to increased polyp burden Possible oral or skin manifestations if associated syndromes are present

Diagnosis Path: Diagnosis of FAP involves a combination of clinical evaluation, family history assessment, and diagnostic testing, such as colonoscopy, to detect the number and size of polyps. Genetic testing for mutations in the APC gene confirms the diagnosis. In some cases, flexible sigmoidoscopy or other imaging techniques are utilized to evaluate polyp distribution. Early diagnosis is crucial for managing the disease effectively and preventing progression to colorectal cancer.

Treatment Protocols: Management of FAP typically includes preventive and therapeutic interventions, such as: - Prophylactic surgery, like colectomy, to remove the colon and reduce cancer risk - Regular endoscopic surveillance to monitor and remove polyps before they become malignant - Use of medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) to potentially reduce polyp formation - Genetic counseling for affected families - Lifestyle modifications to support overall gastrointestinal health - Supportive care for managing symptoms and associated conditions Early detection and appropriate intervention are vital for improving outcomes and reducing the risk of colorectal cancer in individuals with FAP.