Gardner’s syndrome is a rare genetic disorder that can lead to benign or cancerous growth. Gardner’s syndrome is a subtype of familial adenomatous polyposis which eventually leads to colon cancer. Non cancerous growth is seen on different parts of your body.
These non cancerous growths tend to increase with age. In few rare cases eye lesions can also occur on your retina. The non cancerous growth also referred as polyp. The number of polyp growth varies from person to person and the parts.
Gardner’s Syndrome Causes
Gardner’s syndrome is an inherited condition that caused due to the defects in APC gene. Adenomatous polyposis coli (APC) are a type of gene that mediated the production of APC protein. APC protein is responsible for regulating cell growth by preventing the cells from dividing too fast. Defects in APC gene leads to abnormal tissue growth.
Gardner’s Syndrome Risks
The risk of Gardner’s syndrome is more when either of the parents is carrying the defected gene. A spontaneous mutation in APC gene is comparatively less common in Gardner’s syndrome.
Gardner’s Syndrome Symptoms
The common symptoms of Gardner’s syndrome include:
- Bloody diarrhea
- Intestinal polyps
- Epidermoid cysts
- Dermoid tumors
- Multiple growths in your colon
- Development of extra teeth
- Appearance of bony tumors on the skull and other bones
- Cysts under your skin
- Fibroma and epithelial cysts
- Retinal pigment epithelium hypertrophy
- Benign soft tissue tumors
- Fibrous dysplasia of the skull
- Abdominal pain
Gardner’s Syndrome Diagnosis
Gardner’s syndrome can be cured on early diagnosis. The common diagnostic methods used for Gardner’s syndrome include:
- Physical examination
- Blood tests
- Genetic testing
- GI tract endoscopy
- Imaging tests are done to diagnose the long bone that may show osteomas
- Eye examination
- Colon screening
Gastrointestinal tract endoscopy helps in determining the presence of multiple colon polyps. The blood tests are generally used to determine the APC gene mutations.
Garner’s Syndrome Treatment
There is no complete cure for Gardner’s syndrome; treatment is generally done to reduce the risk of developing cancer. Regular screening of polyps is done to determine whether the tumor is associated with Gardner’s syndrome.
Colonoscopy or sigmoidoscopy is mostly done to after the polyps are diagnosed. Colonoscopy is done annually until colectomy. Colectomy is generally recommended only when more than 20-30 polyps are identified in your body. Treatment mainly depends on the type and size of the tumors.
A healthy lifestyle and proper nutritious diet helps in speeding up the healing process of Gardner’s syndrome.
Gardner’s Syndrome Prevention
Parents carrying either defective gene can transfer the gene to the next generation easily. Genetic counseling is required for the parents carrying a defective gene, before they plan for a baby. Genetic screening helps them in identifying the presence of a defective gene in your body. Genetic counseling enables you to know the risk and complications that can result due to the defective gene.