My grandmother Ima would always have something baking in the oven every time I came home from school. My favorite treat was a pastry with generous portions of butter, sugar, and cheese. What I would give to have another whiff of that homemade marvel and to have Ima hand me my warm afternoon snack.
Ima passed away a few years ago from complications related to Parkinson's disease. Family and friends didn't know she had the disorder until it was too late. I wonder if it could have been better managed had we known about the ailment. Of course, there is no cure for Parkinson's disease, and treatment strategies are simply geared toward relieving symptoms. Still, I wonder, as loved ones do, if something could have been done to give us more time with her.
Guesswork may not bring people back into our lives, but awareness and action could possibly help us and loved ones live healthier days. How important is diagnosing a disease before it's too late to change its course? For example, wouldn't it help to know you have high blood pressure and high cholesterol before your first heart attack?
To help in the timely and proper diagnosis of illnesses, patients need to be active advocates for themselves, says Mary Frank, MD, president of the American Academy of Family Physicians and a practicing family doctor in Rohnert Park, Calif. She says it's important to be direct and honest with doctors. This open communication helps screen for diseases.
"A lot of times patients are embarrassed about things, like, for example, when they snore," says Frank. "That could be nothing, or that could be a symptom of a problem like sleep apnea. No need to be embarrassed. Doctors hear those things all the time."
Sometime patients minimize symptoms. They may visit a physician and report they've been feeling tired, but then brush it off by saying 'Oh, but I've been working long hours.' Minimizing symptoms can hinder or delay a doctor's effort to find out the truth. Even if a person is certain of the cause of the symptom, if it's affecting your life, it's worth bringing up, says Frank. In the case of fatigue, it is a symptom of many ailments, including chronic kidney disease, depression, and underactive thyroid.
It also helps to educate yourself on various health issues. Frank says the availability of medical information in the media can help people start a dialogue with their doctors.
To further promote a dialogue between patients and doctors, WebMD has put together information about five conditions that are commonly underdiagnosed. This compilation is by no means exclusive, but it does bring up possible reasons why some illnesses aren't recognized earlier. A greater understanding and consciousness of these disorders could perhaps sooner identify some health problems before they become life-threatening conditions.
Snoring is not usually described as breathtaking, but it can be. The grunting or snorting sound could be a sign of a serious condition called sleep apnea. The condition involves regular interruptions in breathing during sleep. People with sleep apnea experience pauses in breathing that could last 10 seconds or longer for up to 60 times per hour.
Many times, only symptoms of sleep apnea are treated and the disorder is overlooked, says Grandi. For instance, when people with sleep apnea complain of being tired and in a bad mood all the time, they often are diagnosed with and treated for depression.
Barbara Phillips, MD, professor of medicine at the University of Kentucky College of Medicine, cites the frequent association between sleep apnea and obesity as an example.
"Physicians confronted with a very obese patient are having to deal with lots and lots of issues, like diabetes, hypertension, arthritis, and heart disease," Phillips explains. "Doctors tend to go for the low-hanging fruit and try to do the doable, and the most cost-effective things, and I sure don't blame them."
The expense and effort involved in screening can also hamper identification of sleep apnea. A sleep study is recommended for diagnosis. This can involve snoozing several nights at a sleep center while experts observe and measure brain activity, eye movement, muscle activity, breathing movements and oxygen levels, and heart rate.
"Sleep studies are expensive, there are in some centers with long waits to get in, and patients are intimidated by the process," says Phillips. "I think that both patients and potentially referring doctors are put off by this."
Patients who suspect they may have sleep apnea could help themselves by bringing up the matter to a doctor.
Alcohol Abuse and Dependence
Alcohol abuse and dependence are age-old problems that still do not get very much attention in doctors' offices.
Alcohol abuse happens when you continue to drink alcohol despite the significant troubles it causes in your life. Symptoms include:
- Suffering hangovers
- Having attendance and performance problems at work or school related to alcohol use
- Having legal problems, such as physically hurting someone while intoxicated or being arrested for driving under the influence
- Drinking even though it interferes with medical treatment
- Becoming injured as a result of alcohol use
- Hearing loved ones express concern about drinking
Alcohol abuse can lead to alcohol dependence, a condition in which people's lives spiral out of control and center around alcohol use. According to the National Institute of Alcohol Abuse and Alcoholism, alcoholism is a disease that includes four symptoms:
- Craving: A strong need, or compulsion, to drink
- Loss of control: The inability to limit one's drinking on any given occasion
- Physical dependence: Withdrawal symptoms, such as nausea, sweating, shakiness, and anxiety, occur when alcohol use is stopped after a period of heavy drinking.
- Tolerance: The need to drink greater amounts of alcohol in order to "get high"
Although 17.6 million Americans have an alcohol use disorder, only 7% are receiving treatment, says Mark Willenbring, MD, director of the National Institute on Alcohol Abuse and Alcoholism's Division of Treatment and Recovery Research.
Research shows most doctors don't screen for alcohol dependence among regular drinkers, and even if they do identify dependence, they don't usually refer people to treatment.
Patients also don't talk to their doctors about the issue. Even if they know they have a problem, they don't seek help. In a 2003 survey sponsored by the Substance Abuse and Mental Health Services Administration (SAMHSA), substance abusers in general cited non-readiness for treatment, cost, access barriers, stigma, and lack of time and confidence in treatment as reasons for not seeking care.
Fortunately, most people appear to recover without treatment in a substance abuse center. "Approximately 40% of people who develop alcohol dependence are able to drink normally 20 years later, or at least that's what they report," says Willenbring.
Experts do not fully understand the phenomenon, but they do know patients often turn to informal sources of support, such as a family doctor, family members, a minister, or a mental health therapist.
Certain events, such as a conviction for driving under the influence (DUI or DWI) or health problems, can be strong enough incentives for some people to make a change in their drinking habits, says Willenbring. However, not everyone can recover from alcohol dependence on their own.
People can help themselves by talking to their doctors about their alcohol use. Some patients can even try to set up brief, focused sessions with a primary care doctor, a nurse, or a social worker. "The goal of those conversations is to get the person to set goals to reduce their drinking," says W. Oslin, MD, assistant professor of psychiatry at the University of Pennsylvania Medical Center. "There's a lot of [scientific] literature showing those are very effective in the context of primary care."
You can also ask your doctor about medications to treat alcohol dependence. There are various treatments options including detoxification to get the alcohol safety out of your system and medications such as Antabuse, ReVia, and Campral.
Other strategies include asking family and friends about your drinking, undergoing psychotherapy, and educating yourself about the problem through the Internet. Oslin recommends going to alcohol abuse and dependence screening sites that are sponsored by reliable sources such as government agencies, academic centers, and professional organizations.
There is a small, butterfly-shaped gland just beneath the Adam's apple that controls key functions of the body. When that gland, called the thyroid, isn't working properly, metabolic processes go awry and can affect nearly every organ.
Hypothyroidism, or an underactive thyroid gland, happens when the thyroid gland doesn't release enough hormones into the bloodstream, and metabolism slows down. This is the most common of the thyroid diseases.
The prevalence of hypothyroidism is controversial because there is a debate in the medical community about what qualifies as a disorder. Some experts believe illness should be diagnosed when there are mild thyroid abnormalities, called subclinical hypothyroidism. Others think illness should only be diagnosed at later stages, when there is more thyroid dysfunction.
Subclinical cases are prevalent and are probably the most underdiagnosed in the United States, says Leonard Wartofsky, MD, MPH, a prominent thyroid expert and chairman of the department of medicine at the Washington Medical Center in Washington, D.C.
The prevalence of subclinical hypothyroidism depends on age. Wartofsky estimates the range at 4%-5% for people in their 20s to 15%-20% for people in their 70s and 80s. The disorder affects up to 4%-10% of the population and is estimated to affect up to 20% of women older than 60.
Subclinical hypothyroidism is already a serious condition, asserts Wartofsky, pointing to symptoms of fatigue, high cholesterol levels, menstrual irregularities for women, failure to conceive, and possible reduced IQ for children of women with subclinical hypothyroidism during pregnancy.
Yet there is uncertainty over how to manage subclinical cases. "There's a question over whether there's really a benefit to treating patients with subclinical hypothyroidism," says Monica C. Skarulis, MD, senior clinical investigator for the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
Scientific research has not shown a benefit for treatment, says Skarulis. In fact, in at least one study of older adults, people who did not get treatment appeared to fare better than those who did receive treatment.
The study brings up issues such as whether or not experts are on track in their definition of thyroid abnormalities. "Is subclinical hypothyroidism really a disease? Or is this something that we should rethink? I think a lot of us are rethinking it," says Skarulis.
The debate over what defines hypothyroidism makes it unclear how many people are actually missing out on proper treatment. Wartofsky believes only about half or less of people with hypothyroidism are diagnosed with the disorder.
Experts do agree that hypothyroidism can be missed by doctors and patients because the symptoms can be commonplace.
According to the Mayo Clinic, symptoms include:
- Increased sensitivity to cold
- Pale, dry skin
- A puffy face
- Hoarse voice
- An elevated blood cholesterol level
- Unexplained weight gain
- Muscle aches, tenderness, and stiffness,
- Pain and stiffness in the joints
- Carpal tunnel syndrome
- Heavier-than-normal menstrual periods
Tell your doctor if you have been feeling tired and have other symptoms of hypothyroidism. If left untreated, hypothyroidism can contribute to complications such as increased risk of heart disease, diabetes, sleep apnea, and forgetfulness. An extreme form of the disease, called myxedema, is a potentially life-threatening condition in which tissues swell up, fluid accumulates around the heart and lungs, muscle reflexes decrease, and mental abilities diminish.
Polycystic Ovary Syndrome (PCOS)
Polycystic ovary syndrome is a hormonal imbalance that affects 5% to 10% of premenopausal women, disrupting normal ovulation and boosting male hormone levels. PCOS can lead to serious reproductive, metabolic, and cardiovascular problems.
- Irregular or no menstruation
- Abnormal vaginal bleeding
- Excess hair on the face, neck, chest, abdomen, thumbs, or toes
- Depression or mood swings
- Increased risk of certain cancers such as those of the uterine lining
Experts say many women with PCOS go undiagnosed until they have fertility problems, although data on how many are lacking.
"We know that a large number of women aren't diagnosed with PCOS because one of the major symptoms of it, which is irregular menstrual cycles, often isn't considered to be a serious symptom," says Andrea Dunaif, MD, president-elect of The Endocrine Society and chief endocrinologist at the Feinberg School of Medicine at Northwestern University in Illinois. "Also, about a third of the women don't have another classic symptom of it, which is excessive hair growth."
Women often don't bring up symptoms to the doctor because the problems could be seen as commonplace or cosmetic. Even if women do discuss symptoms, some doctors may not know what to do with the information, says Dunaif. She notes that many primary care physicians, gynecologists, and dermatologists -- doctors patients usually turn to for problems related to PCOS -- do not have a lot of training and experience in the subject of medical reproductive endocrinology. Although awareness of PCOS has gotten better over the years, she says many doctors still are not comfortable talking about reproductive or hormonal disorders.
Patients who think they may have PCOS could help doctors and themselves by reading information about the disorder and by being direct and specific about their concern to doctors.
"There are tons of women out there who are going to places like WebMD, diagnosing themselves, and saying to their doctors, 'I think I have PCOS. I have the symptoms," says Dunaif. "If your periods are irregular, that absolutely has to be evaluated by a physician. You need to know what the cause is."
Chronic Kidney Disease (CKD)
The kidneys are amazing organs that filter waste from the bloodstream and keep the body chemically balanced. If waste is not properly filtered, it can collect in the blood and can affect almost every system in the body.
Chronic kidney disease occurs when the kidney's filtering capacity becomes permanently damaged. Deterioration of this capacity can happen within months or within decades. Fortunately, the body is able to live with some diminished kidney function, or with just one kidney.
According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), 10 to 20 million Americans have chronic kidney disease. Of those people, 7.4 million have less than half the filtering capacity of a healthy young adult.
Researchers asked the latter group if they had ever been told they had weak or failing kidneys, and only 20% of the men and 5% of the women said their doctors informed them of their condition. The rest, a majority of people with CKD, didn't know they had the illness.
So many people don't know they have the disorder, because both doctors and patients are not aware of the risk for developing CKD, says Thomas H. Hostetter, MD, director of the National Kidney Disease Education Program.
The biggest risk factors for CKD are high blood pressure, diabetes, and family history of the disease. "People who have those conditions, and often their doctors, aren't aware that they're at risk for kidney disease so they don't get tested," says Hostetter. "But even if they have the test -- the most common (test) is the serum creatinine -- doctors don't often interpret it correctly."
Creatinine is a substance that is normally filtered from the body. If the kidneys are filtering wastes properly, there is a low level of creatinine in the blood. When filtering capacity of the kidney drops, there is a rise in blood creatinine levels.
One problem with this test is that creatinine levels don't rise that dramatically until kidney function is almost completely diminished, says Hostetter. Another problem with the test is that the amount of creatinine in the blood and urine is not only determined by filtering capacity, but by muscle mass as well. The greater the body's muscle mass, the more creatinine produced. This factor makes it more difficult to determine kidney disease in women.
"Women have lower muscle mass on average, and so it takes more kidney disease to drive their creatinine up because they start at lower levels," says Hostetter, noting that the same phenomenon of lower muscle mass and lower creatinine levels happens with the elderly and smaller people. He recommends that doctors take into account the patient's age, sex, and race in estimating kidney filtering capacity.
Patients can educate themselves on the risk factors of CKD and ask their doctors to test them if they think they're at risk. Risk factors include:
- Age. The kidney usually begins to shrink at about age 35.
- Race. Complications of kidney failure appear to be more common in certain ethnic groups, namely blacks, Native Americans, and, to a certain extent, Hispanics.
- Sex. Men have a higher risk of developing CKD than women.
- Family history of high blood pressure, diabetes, polycystic kidney disease, and chronic kidney disease. Both diabetes and hypertension are major causes of chronic kidney disease. Polycystic cystic kidney disease is one of several inherited illnesses that can cause kidney failure.
Many people who have chronic kidney disease often don't know it because there are no symptoms. However, the following may be experienced as kidney function decreases:
- Fatigue because of progressive anemia
- Frequent headaches
- Loss of appetite
- Fluid retention and swelling
- Itchy skin
- Nausea or vomiting
- Swelling or numbness of the hands and feet
- Darkening of the skin
- Muscle cramps
If left untreated, chronic kidney disease can lead to kidney failure, heart attacks, and strokes.