Summary about Disease
Gardner syndrome is a rare genetic disorder characterized by the presence of multiple colorectal polyps (adenomas), benign bone tumors (osteomas), and skin cysts (epidermoid cysts). It is a variant of familial adenomatous polyposis (FAP), an inherited condition that significantly increases the risk of developing colorectal cancer. Other features may include dental abnormalities, desmoid tumors, and congenital hypertrophy of the retinal pigment epithelium (CHRPE).
Symptoms
Symptoms of Gardner syndrome can vary, but common manifestations include:
Multiple Colorectal Polyps: Typically developing in adolescence or early adulthood.
Osteomas: Benign bone tumors, often located in the skull, jaw, and long bones.
Epidermoid Cysts: Noncancerous skin cysts, commonly found on the face, scalp, and back.
Dental Abnormalities: Missing teeth, extra teeth (supernumerary teeth), impacted teeth, and odontomas.
Desmoid Tumors: Noncancerous tumors that can develop in the abdomen and can cause pain or obstruction.
Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE): Flat, pigmented spots on the retina, usually detected during eye exams.
Causes
Gardner syndrome is caused by a mutation in the APC gene. This gene is a tumor suppressor gene, and its mutation leads to uncontrolled cell growth, resulting in the formation of polyps and tumors. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for an individual to be affected. In some cases, the mutation may be spontaneous (de novo).
Medicine Used
NSAIDs (Nonsteroidal Anti-inflammatory Drugs): Sulindac or celecoxib can help reduce the number and size of colorectal polyps, but they do not eliminate the need for surgery.
Chemotherapy: May be used to treat desmoid tumors if they are aggressive or causing significant symptoms.
Other medications: Management of symptoms from tumors is case-specific and based on symptoms.
Is Communicable
No, Gardner syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Genetic Counseling: Individuals with a family history of Gardner syndrome or FAP should seek genetic counseling to understand their risk and options for genetic testing.
Regular Screening: Individuals diagnosed with Gardner syndrome need regular colonoscopies, upper endoscopy, and other screenings to monitor for polyps and tumors.
Prophylactic Surgery: Prophylactic colectomy (removal of the colon) is often recommended to prevent colorectal cancer.
Monitor for Desmoid Tumors: Regular checkups to monitor any unusual pain or growth.
Sun Protection: While not directly related to the gene mutation, sun protection is always a good practice to reduce the overall risk of skin abnormalities.
How long does an outbreak last?
Gardner syndrome is not an outbreak; it is a chronic genetic condition. The symptoms and related health issues are ongoing and require continuous monitoring and management throughout a person's life. The growth of polyps and tumors can occur over many years.
How is it diagnosed?
Diagnosis of Gardner syndrome typically involves:
Physical Examination: Assessing for characteristic features like osteomas and epidermoid cysts.
Colonoscopy: To identify and count colorectal polyps.
Imaging Studies: X-rays, CT scans, or MRIs to detect osteomas, desmoid tumors, or other abnormalities.
Eye Exam: To check for CHRPE.
Genetic Testing: To confirm the presence of an APC gene mutation.
Timeline of Symptoms
The timeline of symptoms can vary, but a general pattern is:
Childhood/Adolescence: CHRPE may be present at birth or develop in early childhood. Osteomas and epidermoid cysts may appear during adolescence. Dental abnormalities are usually evident during childhood.
Adolescence/Early Adulthood: Colorectal polyps typically begin to develop, increasing the risk of colorectal cancer if left untreated.
Adulthood: Desmoid tumors can occur at any time, but they are more common in adults. The risk of colorectal cancer increases with age if a colectomy is not performed.
Important Considerations
Cancer Risk: The primary concern in Gardner syndrome is the high risk of colorectal cancer. Prophylactic colectomy is often recommended to prevent this.
Desmoid Tumors: These tumors can be challenging to manage and may require surgery, radiation therapy, or medication.
Individualized Management: Treatment plans should be tailored to the individual's specific symptoms and disease progression.
Multidisciplinary Approach: Management of Gardner syndrome often requires a team of specialists, including gastroenterologists, surgeons, oncologists, dermatologists, and geneticists.
Family Screening: First-degree relatives of individuals with Gardner syndrome should undergo genetic testing and screening to determine if they are also affected.