Gardner syndrome

Gardner syndrome a hereditary disorder characterised by the growth of multiple benign tumours and polyps in the colon and other areas of the body. It is a subtype of familial adenomatous polyposis (FAP), caused by mutations in the APC gene. If not treated early, the intestinal polyps associated with this condition can become cancerous, particularly leading to colorectal cancer. Understanding this syndrome is crucial for early detection and prevention.

Gardner syndrome is a rare autosomal dominant genetic condition. It typically causes hundreds to thousands of polyps in the lining of the large intestine. These polyps begin to develop during teenage years or early adulthood and, if untreated, almost always progress to colorectal cancer by the age of 40 or 50. Besides gastrointestinal issues, individuals may develop non-cancerous tumours in the skin, bones, and soft tissues, such as epidermoid cysts and desmoid tumours.

Gardner syndrome is an extremely rare condition. Globally, familial adenomatous polyposis (FAP), which includes Gardner syndrome, affects approximately 1 in 10,000 to 1 in 30,000 individuals. In India, limited data exists, but studies suggest that the incidence may be underreported due to lack of awareness and genetic testing.

Gardner syndrome a variant of familial adenomatous polyposis (FAP), and while it is not subdivided into further types, it can be categorised based on symptoms:

• Classic Gardner syndrome: Includes both gastrointestinal and extracolonic manifestations.
• Attenuated FAP (AFAP): Features fewer polyps and often has a later onset.
• Turcot Syndrome: A related condition where FAP is associated with brain tumours.

The primary cause of Gardner syndrome is a mutation in the adenomatous polyposis coli (APC) gene located on chromosome 5. This gene mutation leads to abnormal cell growth, resulting in polyps and other tumours. The disorder follows an autosomal dominant inheritance pattern, which means a person only needs to inherit one defective copy of the gene from one parent to be affected.

In some cases, new (de novo) mutations can occur without a family history.

Symptoms may vary depending on the organs affected, but common signs include:

• Hundreds of colon polyps (usually developing by adolescence)
• Rectal bleeding
• Abdominal pain
• Changes in bowel habits (constipation or diarrhoea)
• Skin cysts (epidermoid cysts)
• Desmoid tumours (non-cancerous fibrous tumours)
• Osteomas (benign bone growths)
• Dental abnormalities (extra or unerupted teeth)
• Congenital hypertrophy of the retinal pigment epithelium (CHRPE)

Early diagnosis is vital to reduce cancer risk. The diagnostic process may include:

• Genetic Testing: Confirms APC gene mutations.
• Colonoscopy: Detects polyps in the colon.
• Upper GI Endoscopy: Identifies polyps in the stomach or small intestine.
• Imaging Tests: CT or MRI scans may detect desmoid tumours or osteomas.
• Ophthalmic Examination: Checks for CHRPE.

Family members of an affected individual are often advised to undergo screening by age 10-12.

Treatment of Gardner syndrome

There is no cure for Gardner syndrome, but early and ongoing treatment can help prevent complications.

• Surgical Options:
  
  • Prophylactic Colectomy: Surgical removal of the colon to prevent cancer development.
  • Desmoid Tumour Surgery: May be needed if tumours are causing pain or obstruction.
• Medication:
  
  • NSAIDs like sulindac or celecoxib to reduce the number of polyps. (Brand: Coxib 200mg capsule)
  • Chemotherapy in advanced cancer cases. (Brand: Oncogem 200mg injection)
• Surveillance:
• Regular colonoscopies and upper GI endoscopies.

While alternative therapies cannot cure Gardner syndrome, they may support overall wellbeing:

• Nutritional Therapy: A balanced, high-fibre, low-fat diet may help reduce inflammation.
• Yoga and Stress Management: To improve mental health, especially post-surgery.
• Herbal Supplements: Under medical supervision, certain antioxidants may support general health, but they should never replace medical treatment.
   

The primary risk factor is family history. Individuals with a parent carrying the APC gene mutation have a 50% chance of inheriting the condition. Other risk factors include:

• New genetic mutations
• History of familial adenomatous polyposis (FAP)
• Unscreened relatives of an affected individual

If left untreated, Gardner syndromecan lead to serious complications:

• Colorectal Cancer: Virtually inevitable if polyps are not removed.
• Desmoid Tumours: Can be locally aggressive and difficult to treat.
• Gastrointestinal Obstruction: Due to large polyps or tumours.
• Metastasis: In advanced cancer cases.
• Psychological Impact: Living with a lifelong condition can lead to anxiety or depression.

• Follow Medical Advice: Stay consistent with check-ups and medications.
• Dietary Choices: Opt for a nutrient-rich, high-fibre diet.
• Stay Active: Regular physical activity promotes general health.
• Mental Health: Counselling and support groups can be helpful.
• Educate Yourself and Family: Understanding the condition empowers better decisions.

• Myth: It only affects the intestines
  
  
  • Fact: It also causes skin, bone, and dental tumours.
     
• Myth: Surgery eliminates the risk completely
  
  
  • Fact: Regular surveillance is still needed post-surgery.
     
• Myth: It always shows symptoms early
   
• Fact: Some individuals may not experience noticeable symptoms for years.
   

Seek medical attention if you:

• Notice rectal bleeding or changes in bowel habits
• Have a family history of colon cancer or FAP
• Develop unexplained growths under the skin
• Experience abdominal pain or swelling

Early screening can prevent serious complications.
 

• Do I need genetic testing for APC mutations?
• How often should I have a colonoscopy?
• What surgical options are available to me?
• Are my children at risk?
• Can desmoid tumours return after surgery?

• Be Empathetic: Understand the emotional toll of living with a genetic disorder.
• Encourage Regular Check-ups: Support them in following medical schedules.
• Provide Emotional Support: Be there for open conversations and reassurance.
• Offer Practical Help: From managing appointments to preparing meals.
• Stay Informed: Educate yourself about the condition to help effectively.

Gardner syndrome is a life-altering yet manageable genetic condition. With early detection, regular screening, and timely treatment, individuals can lead fulfilling lives while significantly reducing their cancer risk. Genetic counselling and family awareness are essential for prevention. Understanding the condition, busting myths, and providing holistic support can make a lasting impact on those living with Gardner syndrome.