Lifesaving Medical Tests Doctors Too Often Overlook

A 5O-year-old man I knew went for an annual checkup. His doctor pronounced him in excellent health. Eight months later the man had a major heart attack and died.

His death could have been prevented. If the doctor had talked to the patient at length, he would have discovered that one of his relatives had hemochromatosis, a dangerous condition in which the body retains too much iron, causing heart problems. A simple $35 blood test would have confirmed the condition-the patient could have been treated and would still be alive today.

Dozens of screening options can diagnose deadly diseases in the earliest stages, when treatment has the greatest chance of success-but doctors, pressured by increasing patient loads and hamstrung by what insurers will cover don't always order them when they should.

Key Tests

The following conditions can be detected by simple tests. These tests may not be covered by insurance- check with your insurer-butt consider paying for them even if they're not.. .*

Diabetes. Type 2 diabetes affects 17 million American adults and children, yet close to one-third don't know they have it because symptoms may not appear for a decade. Approximately 200,000 people die each year from the complications of type 2 diabetes. Hundreds of thousands more experience blindness, kidney failure and/or nervous system damage.

Test: A fasting blood glucose test is taken after you have not eaten for at least eight hours. If your results are above 110 milligrams per deciliter (mg/dl), you should have the more definitive oral glucose tolerance test. After you ingest a high-sugar drink, your blood glucose level is measured every hour for three hours. If your glucose level rises more than expected and doesn't return to normal by the third hour, you have diabetes.

Who should consider testing: Obese people who have a body mass index (BMI) of 30 and higher (to calculate BMI, go to www.diabetes.org).. . African-Americans, Latinos and Native Americans older than age 45...anyone who has a close relative who is a type 2 diabetic.

Cost: Approximately $12 for a fasting blood glucose test...approximately $25 for an oral glucose tolerance test.

Coronary heart disease (CHD). In CHD, the walls of the coronary arteries are narrowed or blocked by a buildup of fatty plaque. CHD is the single largest killer of men and women in the US. Elevated C-reactive protein (CRP) levels are a sign of inflammation and are a better predictor of heart disease in women than LDL ('bad') cholesterol levels. A standard blood test measures C-reactive protein in the blood.

Test: The new high-sensitivity C-reactive protein test measures levels more accurately than the old test. This is vital because studies now show that any reading higher than 1 milligram per liter (mg/L) puts you at above-average risk for CHD. (The older test wasn't able to detect a level that low.) Formerly, it was thought that only readings greater than 5 mg/l put you at risk.

Who should consider testing: Anyone who has high cholesterol or high blood pressure... people who have diabetes...people whose parents or siblings have or had CHD...smokers.

Cost: $25 to $50.

Hemochromatosis. This disease causes the body to absorb too much iron, resulting in heart problems, arthritis and a decreased life expectancy. One in 10 Americans has the single mutated gene that causes secondary hemochromatosis, a milder form of the disease.

Test: A percent transferrin saturation blood test screens for an abnormal metabolism that signals a propensity to over accumulate iron. If the test is positive, a genetic blood test for hereditary hemochromatosis should be performed.

Who should consider testing: Male Caucasians of Northern European descent, particularly of Celtic ancestry...individuals who have relatives that have had hemochromatosis.

Cost: $20 to $50 for percent transferrin saturation test...$125 to $165 for genetic testing.

Hepatitis C virus (HCV). Approximately 4 million Americans are infected with HCV, but less than 30% are diagnosed because most of them have no symptoms. Left untreated, HCV can lead to cirrhosis and liver cancer.

Test: An enzyme-linked immunosorbent assay (ELISA) blood test can detect the presence of hepatitis C antibodies. If the test results are positive, you'll need to have an HCV ribonucleic acid (RNA) test to determine how recently you were exposed to the virus and how much of it is in your blood.

Who should. consider testing: People who received blood transfusions or organ transplants prior to 1992 (when the blood supply was nor screened for HCV). . .health-care workers who get accidental needle sticks...intravenous drug users...those who have had multiple sex partners.

Cost: $70 to $t00 for an ELISA test...approximately $100 for an HCV RNA test.

Pancreatic cancer. The five-year survival rate of this deadly disease is just 4% because symptoms rarely appear until the tumor grows large enough to interfere with the function of nearby organs, such as the stomach, small intestine and liver. Early detection can raise the five-year survival rate to nearly 40%.

Test: Endoscopic retrograde cholangiopancreatography (ERCP) can detect abnormalities of the pancreas, including a precancerous condition known as dysplasia, approximately 90o/o of the time. A physician guides an endoscope down through your stomach and small intestine to inject a dye into the ducts in the pancreas. X-rays are taken and examined. If anything suspicious is seen, a biopsy is performed.

Who should consider testing: People who have pancreatitis, an inflammatory condition that occurs when digestive enzymes attack the pancreas itself instead of breaking down food in the small intestine. Symptoms include mild to severe abdominal pain, often accompanied by nausea, vomiting and fever. People who have an inherited defect in the BRCA2 gene also should be tested. This is found in approximately 1% of Ashkenazi Jews and in some women who have a family history of breast cancer.

Cost: $1,500 to $2,000.

Your Risk Profile

The more informed a doctor is about your health and risk factors, the more likely he/she is to order tests that could save your life. You can help your doctor by creating your own detailed risk profile. Include...

Personal medical history-major diseases, injuries and operations you have had and any residual effects. Patients often forget childhood illnesses, so ask close relatives. Also, list allergies, including those to medications.

Genetic makeup-your racial and ethnic background.

Extended family medical history-diseases that family members have or have died from, such as type 2 diabetes, cancer and coronary artery disease. Also include family conditions such as obesity and depression.

Lifestyle. Be honest with yourself and your doctor about smoking, alcohol consumption, diet and exercise. Ask family and friends for objective opinions.