What are Familial Adenomatous Polyposis and Desmoids Disease?Familial adenomatous polyposis is an inherited disorder characterized by the development of several benign abnormal tissue growths called adenomatous polyps, which originate from the glandular epithelial tissue of the large intestine, also called the colon. Although they are not cancerous, however, they can invade local and nearby tissues and cause death.
Disease Etiology (Causes)A mutation in a particular gene is the cause of the development of familial adenomatous polyposis and desmoids disease.
Disease EpidemiologyIt is a rare disease and makes approximately 1% of the large intestine and rectal cancer. It is slightly more predominant in females than males. It is more common in the younger population.
Signs and SymptomsThe patient may suffer from the following signs and symptoms. These are
- Pain in the abdomen
Diagnosis and TreatmentThe following diagnostic tests and procedures can be used to make a diagnosis. These are
- Complete blood count (CBC)
- Blood coagulation profile
- BUN ( blood urea and nitrogen)
- Serum creatinine
- Liver function tests LFT’s
- Amylase and lipase values
- Imaging techniques like CT-scan, MRI, PET-scan, X-Ray, and USG to detect the site and size of the tumor.
- Preoperative biopsy