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10 Diseases Doctors Miss

Sharron Marionneaux loved her job. The 60-year-old had worked for 28 years in a busy ophthalmologist's office in Baton Rouge, La., fitting patients for contact lenses. Three years ago she was overcome by persistent exhaustion. Regular checkups indicated Marionneaux was in good health. "Nothing was wrong with me, so I thought, Well, I'm old - that's why I'm tired."

She cut her workweek from five days to three, but it didn't help. "At the end of the day, I was literally climbing up the stairs on hands and knees to get to my bedroom." Then she became impatient and forgetful. She called her internist; she knew something was terribly wrong. He ordered a battery of test, but after three months, Marionneaux still had no diagnosis. Then her doctor recalled that Marionneaux had had emergency heart surgery in 1983 and had needed blood transfusions. Could she have hepatitis C? "He said, 'I know you don't have this, Sharron, but let's test you anyway.'" But she did, and her liver had extensive scarring.

For 19 years, Marionneaux had suffered from a potentially fatal disease, and no doctor had noticed it. Unfortunately, stories like this are far more common than they should be. Diseases and disorders sometimes develop stealthily, presenting no obvious warning signals. Or they may exhibit symptoms so vague that doctors are left scratching their heads as test after test fails to detect anything amiss.

Sleep Apnea

Cartoons have long poked fun at thunderous snoring, but experts are realizing the noise is serious. Snoring may indicate sleep apnea, which can lead to high blood pressure, heart disease and strokes.

A collapsing airway triggers the snoring, and it can interrupt breathing for as long as a minute. Sufferers awake—usually without realizing it—to restart their breathing. That continual arousal interferes with the quality of sleep, says James Walsh, president of the National Sleep Foundation. Yet many doctors still don’t realize how harmful this can be; getting a proper diagnosis is difficult.

Who’s at risk: Risk increases with age, but even children can get it. Some 18 million Americans have the condition, according to the National Sleep Foundation. It’s twice as common in men as it is in women, and it’s associated with being overweight and having a physical abnormality in the upper airway.

Symptoms: You guessed it: snoring. Also, daytime sleepiness.

Diagnosis: Unexplained daytime sleepiness is a key sign of sleep apnea or other sleep disorders, Walsh says. When doctors suspect sleep apnea, they may recommend spending a night at a sleep clinic to monitor brain activity and blood oxygen levels.

Treatment: Patients find relief by using a machine that forces air through the nasal passages during sleep.


This disease is caused by the hepatitis C virus, which is spread by contact with infected blood, leading to inflammation and scarring of the liver.

Who's at risk: Anyone who had blood transfusions or organ transplants before July 1992, when better testing of donors was implemented. Also at risk: health care workers who may have been jabbed with a needle or splashed with blood. At highest risk are users of illegal drugs, people with tattoos and long-term hemodialysis patients.

Symptoms: In its early stages, the only symptom is fatigue. "Hepatitis C is a silent killer," says Carroll B. Leevy, associate professor of medicine at the Liver Center at the University of Medicine and Dentistry of New Jersey. "Probably almost half who are infected with hepatitis C in this country do not know they have it." Late-stage symptoms include digestive upsets, muscle and joint pain, kidney disease, autoimmune problems and cirrhosis.

Diagnosis: A simple blood test can detect the virus.

Treatment: A combination of antiviral drugs can slow or stop the disease, but the course can last up to 48 weeks. Marionneaux took pills and got injections for nearly a year, and it was worth it: "I feel terrific," she says.


Relief. That's what Kevin C. Crews felt when he was diagnosed with lupus. Since childhood, Crews had been plagued by health problems - fatigue, fever and trouble breathing. As an adult, joint pain and rashes added to his woes. Yet no doctor could ever tell him why. Finally after a bout of severe chest pains and visits to four different specialists, a rheumatologist figured out Crew's problem. "Actually coming up with a diagnosis was kind of a relief. Now I have a name to put with it," says the 43-year-old, who does special effects for theatrical productions in California. He also discovered that the autoimmune disease had provoked his body's defenses to attack his own tissue and organs.

Who's at risk: Lupus has a genetic basis and most commonly strikes young women, which is one reason doctors failed to pinpoint Crew's problem.

Symptoms: They're maddeningly tough to predict, according to Joan T. Merrill, co-chair of the Medical and Scientific Advisory Board of Lupus Foundation of America. "Lupus can affect almost any organ in the body," Merrill says. One person may have swelling of the feet and pain while breathing. The next patient may have sores in the mouth and nose or rashes.

Diagnosis: Doctors consider a patient's medical history and immune function. One survey suggests more than half of all patients suffer for four or more years and visit three or more doctors before being diagnosed.

Treatment: A variety of drugs are used, depending on how lupus manifests itself. Crews still struggles with his symptoms, but he has been well enough to work and lead a full life.


While pregnant with her second child, Jackie Rosenblum of Los Angeles, now 37, developed a burning, itchy, blistery rash on her face and upper body. "I was told I was allergic to being pregnant," says Rosenblum. Six miserable months later, a doctor diagnosed celiac disease.

Imagine being sensitive to most grains - wheat, barley, rye. They all contain the protein gluten. And when Rosenblum eats grains, the hairlike projections in her small intestine called villi - they absorb the nutrients from food - shrink or disappear, leaving her unable to digest properly. Celiac disease can lead to osteoporosis, iron-deficiency anemia and serious vitamin deficiencies.

Who's at risk: About 20,000 Americans have been diagnosed, but experts estimate that more than a million Americans are sufferers. In genetically susceptible people, the disease can be triggered by pregnancy, severe stress, surgery or viral infection.

Symptoms: Typically, they include abdominal cramping and bloating, gas, diarrhea or constipation, unexplained anemia and mysterious weight loss or gain. Sufferers may also feel joint pain, fatigue or depression, and some develop a substantial rash.

Diagnosis: Doctors look at the symptoms and rely on blood tests to detect the sensitivity, followed by a small-bowel biopsy.

Treatment: Avoidance. At first Rosenblum cut out bread and pasta, but not the gluten that is hidden is so many products under names such as "modified food starch" and "texturized vegetable protein." After two more years of troubles and a doctor's reprimand, Rosemblum finally began eating a 100% gluten-free diet. Now she says, "I feel really, really good."


A Few years back, Ann Miscoi, a 55-year-old preschool teacher in Kokomo, Ind., had a chance to get an inexpensive preventive-health blood-screening test at her school. Though she felt fine, her iron levels turned out to be well above normal. When her doctor seemed unconcerned, Miscoi decided to take her results to a second internist. This doctor suspected hemochromatosis, a condition in which the body absorbs too much iron from an ordinary diet. The disease is usually inherited but can result from taking high doses of iron pills. Unable to metabolize the excess iron, the body stores it in organs such as the liver and heart. Undetected, iron overload can destroy organs and cause death. That alarmed Miscoe: Her father died of liver disease in his 40's. Sure enough, after genetic testing Miscoi found out that she carried the gene.

Who's at Risk: Hemochromatosis is more prevalent in people of Celtic, British and Nordic descent, although it's not restricted to these ethnic groups. Only 2% of Americans with iron overload know they have it.

Symptoms: Joint pain, fatigue, abdominal pain, liver scarring and heart problems. However, like Miscoi, many people have no symptoms when they are diagnosed.

Diagnosis: Simple blood tests can detect an overload of iron, and a DNA test can reveal one's genetic susceptibility. A liver biopsy is the best way to confirm a diagnosis.

Treatment: Remarkably, bloodletting--also known as phlebotomy--is the best remedy. If Miscoi continues to have periodic phlebotomies for the rest of her life, she'll be able to keep her hemochromatosis under control.


Experts have likened aneurysms to time bombs for good reason: You can be symptomless until the faulty blood vessel bursts. The major arteries in the chest and head are the most notorious--and fatal--places to have an aneurysm; half of all victims die immediately. However, the prognosis is good for people who have aneurysms removed before they burst, says neurosurgeon Thomas Kopitnik, at Central Wyoming Neurosurgery in Casper.

Who's at risk: About 2 million Americans are walking around with unruptured brain aneurysms, yet many doctors still think of the condition as rare. Aneurysms in the aorta--the garden-hose-sized artery that runs from the groin to the chest--figured in 22,000 deaths in 2000. (And it killed 54-year-old actor John Ritter last year.) Artery disease, high blood pressure, smoking and having close relative who have had aneurysms all raise your risk.

Symptoms: If a brain aneurysms bursts, it causes the instantaneous onset of an unusually severe headache, Kopitnik says. Other symptoms include nausea and vomiting, blurred vision, pain above and behind an eye and stiff neck. Aortic aneurysms announce their presence with crushing chest or abdominal pain.

Diagnosis: Kopitnik offers two pieces of advice: Anybody who suspects a burst aneurysm should get to a vascular neurosurgeon fast. Second, if you are at risk for having an aneurysm, ask your doctor to do an MRI screening.

Treatment: Quick surgery can save a person's life.


That bull’s-eye rash isn’t the reliable indicator we think it is. In fact, the rash isn’t always a bull’s-eye—it can be solid red or pink, and darker in people with darker skin. Should the tick get away unnoticed, the Lyme bacterium produces symptoms so vague that doctors and patients can go months without knowing why they’re tired all the time, or how they might have suddenly developed arthritis.

Who’s at Risk: People living in areas where Lyme disease is prevalent (the Northeast, upper Midwest, areas of the Northwest) and especially those who work outdoors of kids who play outdoors in those areas.

Symptoms: Joint pains, muscle aches, loss of appetite, fever, chills, fatigue and other symptoms victims—and doctors—may write off as the flu.

Diagnosis: The bull’s-eye rash that typically develops three days to one month after a bite from a tick carrying the bacterium Borrelia burgdorferi is your best bet. But the rash never appears in some infected people and blood tests can be unreliable. Symptoms may provide the best clue.

Treatment: Start with prevention: after being outdoors, always check yourself for ticks. If you’re infected, antibiotic therapy can take care of symptoms. But if the disease lurks for several years, you may need several courses of antibiotics.


The thyroid is a small, butterfly-shaped gland found just below the Adam’s apple. When it fails to make enough thyroid hormone to maintain the body’s metabolism, the body starts slowing down. Sufferers gain weight, feel tired, suffer memory lapses—the symptoms are myriad and confusing.

Who’s at Risk: Women are five times more likely to develop hypothyroidism than men. Risk increases with pregnancy and age. By age 60 as many as 17% of women have hypothyroidism. Of the 27 million Americans with thyroid disease, about half are undiagnosed, according to the American Association of Clinical Endocrinologists.

Symptoms: Cold intolerance, fatigue, weight gain, heavy periods, hoarse voice, dry skin and hair, memory lapses, loss of energy, depression, sleep difficulties and hair loss.

Diagnosis: A simple blood test can reveal an under active thyroid.

Treatment: Patients get a daily dose of hormone replacement drugs.

Polycystic Ovary Syndrome (PCOS)

Carol Arnold, 32, owner of a marketing communications and PR firm in North Hampton, N.H., grew up having irregular periods and battling her weight. In her late 20’s, her weight ballooned to 290 pounds, she began sprouting facial hair, she felt lethargic, and she stopped menstruating. Arnold didn’t know it, but her ovaries were riddled with cysts. She saw three doctors in a row; but no diagnosis. “They all said, ‘You need to lose weight’.” Finally, Arnold got an answer. She had PCOS, a condition in which her high levels of testosterone prevented her ovaries from releasing eggs, which then became cysts. “Two weeks into treatment I got my first period in four hears,” she says. In the three years since diagnosis she lost 70 pounds.

Who’s at risk: About 5% to 10% of women ages 20 to 40 have it.

Symptoms: women with PCOS are often overweight and have excess body and facial hair, irregular menstrual cycles, infertility, acne, insulin resistance and difficulty losing weight.

Diagnosis: Pelvic exams, ultrasound, and blood tests to measure hormone levels can reveal the condition.

Treatment: Birth-control pills can treat irregular periods, and a diet and exercise program can work wonders.


Doctors miss this bacterial infection because people don’t realize they’re infected. In 80% to 90% of men, there are no symptoms. “Unless sit is picked up in a routine doctor’s visit, you wouldn’t know you had it,” says Charlotte Gaydos, an associate professor of medicine at Johns Hopkins University in Baltimore. That can explain why chlamydial infection rates are skyrocketing. In a study of 23,000 female Army recruits, Gaydos found that 9.51% tested positive for the bacteria that cause chlamydia. Four years earlier, the prevalence was only 8.1%. Untreated chlamydia in women can cause pelvic inflammatory disease, scarring of the fallopian tubes, ectopic pregnancy and, in some cases, infertility, also a problem for men.

Who’s at risk: Technically, and sexually active man or woman, especially under the age of 25. Gaydos recommends that people who fit in this category be screened every six months. With an estimated 4 million new cases each year, chlamydia is the most common sexually transmitted disease.

Symptoms: Initially, they consist of discharge or itching that is so mild most people don’t see a doctor. Over time women can experience lower abdominal or back pain, pain during intercourse, bleeding between periods and nausea or fever. For men, discharge from the penis, pain or burning during urination, or pain and swelling of the testicles.

Diagnosis: A urine test or a pelvic examination will reveal chlamydia.

Treatment: Chlamydia is treated with a single dose of antibiotics.

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