An Overview of Gardner Syndrome

The medical community relies on the medical researchers to learn more about human illnesses to classify the symptoms and diseases under different categories to understand the underlying processes that trigger the illnesses, and to possibly find a cure for them. Working in unison on various forms of disorders, the medical community around the world arrives at the facts behind a disease or condition and then employs scientific studies and logic to effectively diagnose and properly treat the symptoms underlying the different disorders.

One of the rare disorders that affect humans is Gardner syndrome; with this condition extra growths can occur anywhere in the body. A common characteristic of Gardner syndrome is the presence of tiny polyp type growths that occur in the colon. Extra teeth, bony tumors of the skull, fatty and fibrous tumors and cysts can also occur with Gardner syndrome.

Classification of Gardner syndrome

Gardner syndrome is classified as an autosomal disease, which is a variant subtype of Familial Adenomatous Polyposis (FAP). Most often, the patients who suffer from Gardner syndrome have primary non-cancerous (benign) masses in the form of cysts, tumors or polyps. However, there is a tendency for these masses to develop into malignant (cancerous) forms, putting the life of the patient in serious danger.

Symptoms and treatment of Gardner syndrome

FAP, or familial adenomatous polyposis, consists of colon polyps which form on the inner lining of the large intestine. There could also be sebaceous cysts and epidermoid lumps filled with fluid under the skin. There may also be fibrous tumors in any organ of the body. People with Gardner syndrome may also have osteomas, which are bony growths that usually form on the facial bones. Individuals diagnosed with Gardner syndrome are at high risk to develop colorectal cancer; the adenomatous polyps might convert from benign to malignant. Frequent medical follow-ups are recommended for early detection for the onset of Gardner syndrome is necessary to prevent further complications of the disease.

Gardner syndrome is inherited through the genes of the parents. The disease often passes from one generation to the next in a family. Active research is going on in the field of genome therapy and stem cell therapies that might help in the early detection and prevention of Gardner syndrome. The relevant gene that is the underlying cause for these manifestations of Gardner syndrome is identified as the APC gene (Adenomatous Polyposis Coli gene). When a person shows symptoms of colon polyps or any other tumors, fibroids or cysts, the person is subjected to blood gene mapping, where the APC gene is isolated and tested for evidence of mutation and alteration. Besides the patient, all other family members may also have to undergo blood screening tests for evidence of APC gene mutation for the early detection of Gardner syndrome.

Conclusion

Gardner syndrome, by itself, is a very rare disorder. A retinal pigment epithelium hypertrophy occurs at birth. It is called CHRPE (congenital hypertrophy of the retinal pigment epithelium). An eye specialist can diagnose the existence of CHRPE by conducting a special examination. CHRPE does not affect the vision of an individual, but should be identified along with the other symptoms. Treatment of Gardner syndrome is mostly geared towards treating the symptoms. Surgical intervention and medical care are similar to those applied for any ordinary cysts and tumors. As with any other complication, Gardner syndrome also requires early detection and treatment to avoid progression into cancerous diseases.

Sources:

Journal of Medical Genetics

Medicinenet.com