Over the past 20 years, hundreds of diseases have been linked to mutations in certain genes. A growing number of these mutant genes can now be detected via a simple blood test.
How much influence does your genetic makeup have over your health? What can you do if a hereditary ailment runs in your family? Who should undergo genetic testing.
For the answers to these and other questions, we spoke with Yale genetic counselor Ellen Matloff...
*To what extent is illness determined by "bad" genes? We shouldn't really call these genes "bad." We all have genetic mutations. Each of us is probably predisposed to at least one disease...whether it's cancer, heart disease, high cholesterol or a blood disorder.
Having a mutation that has been linked to a specific illness doesn't guarantee that you'll develop that illness. It just means you're at high risk.
In many cases, you can minimize the risk by adopting a healthy lifestyle...and by keeping an especially close watch on your health.
With some genetic defects, including those causing certain types of thyroid and colon cancer, risk of developing the disease in question can be close to 100%. That means anyone with the mutant gene who lives to age 85 is almost certain to develop the cancer unless the organ is removed...no matter what other preventive measures are taken.
With other mutant genes, the risk is less certain. If you have one of the recently identified genes linked to breast cancer, for example, you have an 85% chance of getting breast cancer by age 85. The general population of women face a 10% risk of breast cancer.
These mutations are also associated with a 50% to 60% lifetime risk of ovarian cancer (versus a 1% lifetime risk for the general population).
Hives (urticaria) is an allergic reaction in the skin characterized by white or pink welts or large bumps surrounded with redness. These lesions are known as wheal and flare lesions and are caused primarily by the release of histamine (an allergic mediator) in the skin. About fifty percent of patients with hives develop angioedema...a deeper, more serious form involving the tissue below the surface of the skin.
Hives and angioedema are relatively common conditions: it is estimated that fifteen to twenty percent of the general population has had hives at some time. Although persons in any age group may experience acute or chronic hives and/or angioedema, young adults (post-adolescence through the third decade of life) are most often affected. The basic cause of hives involves the release of inflammatory mediators from mast cells or basophils...white blood vessels, particularly in the skin, while basophils circulate in the blood. The classic allergic reaction occurs as a result of complexes of allergic antibodies (IgE) and antigens (foreign molecules) binding to mast cells and basophils and stimulating the release of histamine and other factors appear to be more important in stimulating the release of histamine in hives.
One of the top three will combat if not prevent allergic reactions from occuring depending on the person. Hives can be produced as a result of reactions to various physical conditions. The most common forms of physical urticaria are dermographic, cholinergic, and cold urticaria. These are briefly described below. Less common types of physical urticaria or angioedema are: contact, solar, pressure, heat contact, aquagenic, vibratory, and exercise-induced.
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