Diseases doctors misdiagnose: Autoimmune illnesses' symptoms ’Äî fatigue, weight gain, aches ’Äî are vague. And many women suffer for years without proper treatment.

[Guest guest]

Diseases doctors misdiagnose: Autoimmune illnesses' symptoms ‹ fatigue,

weight gain, aches ‹ are vague. And many women suffer for years without

proper treatment. What you should know - Health

Dana Hudepohl

When, at 36, Haley Hoffman- became pregnant with her second child, she

knew something didn't feel right. " The aches in my joints and the fatigue

were often so bad, it was difficult to get out of bed, " she recalls. Her

obstetrician, however, assured Hoffman- she was experiencing normal

symptoms of pregnancy.

But after she gave birth, Hoffman-'s fatigue and the aches in her

ankles, back and elbow persisted. Her periods didn't return to normal, she

couldn't lose her pregnancy weight and her hair fell out in clumps. " Most of

the doctors I saw thought the symptoms were psychological and I was just

seeking drugs, " she says. Over the course of a year, Hoffman- saw 10

physicians, and still had no explanation.

Nearly a year after the birth of Hoffman-'s baby, a doctor tested

Hoffman-'s thyroid. Normal levels of thyroid-stimulating hormone range

between 0.5 and 5.5; hers topped 84. A normal count for antibodies is

between 1 and 35; hers was 1,875. Hoffman- finally had a diagnosis:

Hashimoto's thyroiditis, one of more than 80 diseases categorized as

" autoimmune, " meaning the body mistakenly identifies normal proteins as

foreign invaders and produces antibodies to attack healthy cells. (See

sidebar: " The 10 Most Common Autoimmune Diseases. " )

For Hoffman-, the diagnosis was bittersweet. " It was a great sense of

relief to know I wasn't crazy, " she says. But it was also confirmation that

she was embarking on a lifetime battle against a chronic disease.

The hardest part: diagnosis

While Hoffman-'s hunt for a correct diagnosis may seem extreme, it's

actually a typical experience for people with autoimmune disease. " I wish I

could say it was unusual, " says Virginia Ladd, a lupus patient and founder

of the American Autoimmune Related Disease Association (AARDA; aarda.org).

For those with an autoimmune disease, getting a correct diagnosis takes an

average of four to five years and four to five different doctors. There are

few definitive tests, and symptoms, which may come and go, can be as

nebulous as fatigue, weight gain or memory problems.

According to an AARDA survey of patients with autoimmune disease, almost 50

percent were labeled hypochondriacs or chronic complainers in the earliest

stages of their illnesses, and the medical specialist they encountered who

was most likely to suggest the first correct diagnosis was a mental-health

professional.

" Most physicians went through medical school at a time when we didn't

understand much about autoimmune disease, " says Noel Rose, M.D., Ph.D.,

director of the s Hopkins Autoimmune Disease Research Center in

Baltimore. " It's not prominent on their mental radar screen. "

Unfortunately, this delay to diagnose has huge costs. The longer a patient

goes untreated, the greater her risk for irreparable damage.

Are you at risk?

Experts estimate that 75 percent of all autoimmune-disease cases occur in

women. Researchers can't pinpoint a reason, but many believe hormones play a

role. Some autoimmune illnesses occur more frequently following puberty or

menopause. Others improve during pregnancy and flare up again after

delivery, while still others worsen during pregnancy. " Autoimmune diseases

seem to hit women particularly in their most demanding years -- when they

are starting their families and have young children at home, " Rose says.

Experts believe that a genetic factor may also be at work. Autoimmune

disease commonly shows up in families as different illnesses. A daughter may

have diabetes; her mother, lupus; and her grandmother, rheumatoid arthritis.

And autoimmune patients can come down with more than one disease.

(Hoffman- is now also being treated for rheumatoid arthritis.)

However, not everyone with a genetic predisposition for autoimmune disease

develops one: Studies thus far have found that if one identical twin gets an

autoimmune disease, there's still only a 50 percent chance of the other twin

getting it.

But for those who do develop a severe form of autoimmune disease, it has the

potential to be life-threatening. According to a study in the American

Journal of Public Health, among women ages 15-44, autoimmune disease is the

fifth leading cause of death by disease.

Treatment: what the future holds There are currently no cures for autoimmune

disease. Treatment is far from perfect and tends to take three directions:

first, relieving symptoms, such as pain; second, replacing a hormone that

has been depleted (such as thyroid hormone in Hoffman-'s case) because

the relevant organ's ability to produce it has been destroyed; and third,

suppressing the immune response with corticosteroids or chemotherapies --

often troublesome since the medication's side effects can feel harsher than

the disease itself and leave the patient vulnerable to infection. " When

you're diminishing the patient's immune response, you're walking a tightrope

the entire time, " Rose says.

The latest research is investigating how to turn off just the harmful immune

response and not damage total immune function. Among the more promising

leads:

* Anti-TNF drugs TNF, or tumor necrosis factor, is a protein that plays a

significant role in the regulation of the immune system. By shutting off

TNF, these drugs provide a more targeted form of immune therapy. Remicade

and Enbrel are available for rheumatoid arthritis and Crohn's disease, and

they show promise in a variety of other autoimmune diseases as well. (The

U.S. Food and Drug Administration [FDA] has issued a warning about Enbrel;

some patients have developed serious infections, and some have died from

those infections.)

* Stem cells When the immune system attacks tissue, inflammation that leads

to scarring can result. Stem cells, which can make new cells, may be able to

generate healthy tissue to replace that damaged by scarring. " Stem-cell

transplant research offers probably more for autoimmune disease than for any

other disease category because of stem cells' ability to grow new tissue, "

Ladd says.

Daily meditation and stress-reduction techniques helped patients to diminish

stress, pain and sleep difficulties.

* Hormonal therapies As researchers learn more about the role of hormones in

autoimmune disease, treatments may begin to reflect this link. " We need to

recognize there might be interactions between one body system and another

that we just never thought about before, " says Sara , M.D., a

professor of internal medicine at the University of Missouri-Columbia, who

is studying the effect of hormonal treatment on lupus.

When she treated mice suffering from lupus with bromocriptine -- a drug

approved for use in patients with high levels of the hormone prolactin --

they had a favorable response and lived longer. Another hormonal treatment,

DHEA, is currently under review by the FDA. " There is good evidence that if

DHEA is taken over a long period of time, the patient with lupus may well

expect to be able to decrease the prednisone dose, and that's good, " says

. Prednisone is a steroid often used by lupus patients for immune

suppression that has undesirable side effects like weight gain, high blood

pressure and thinning bones.

* Meditation A study at the University of Louisville found that when women

with fibromyalgia (a musculoskeletal pain and fatigue disorder) met weekly

to learn stress-reduction techniques and meditated daily, they were able to

diminish stress, pain, sleep difficulties and the impact of the symptoms on

their quality of life. Jon Kabat-Zinn, Ph.D., director of the University of

Massachusetts Medical School Stress Reduction Clinic in Worcester, had

similar results with patients with the autoimmune skin disease psoriasis:

When they listened to meditation audiotapes during ultraviolet-light

therapy, they responded to treatment faster.

Such advances in treatment give sufferers like Hoffman- hope. In the

meantime, questions plague her. Will the medication she takes ever stabilize

her thyroid level? If she's this sick now, what will she be like in 10

years?

But most troubling for Hoffman- and her husband are what effects her

illness may have had on the son, now 4, she carried before she was diagnosed

and treated, and who shows signs of being developmentally slow. A study in

The New England Journal of Medicine found women with untreated thyroid

deficiency during pregnancy are four times more likely to have children with

lower IQs. " My son has potential retardation, " Hoffman- says. " We have

to wonder and live with this every day when a simple blood test could have

detected my thyroid problem and protected my son's health. "

RELATED ARTICLE: the 10 most common autoimmune diseases

1. Graves' disease

What it is Overproduction of thyroid hormone symptoms Weight loss; increased

appetite, heart rate and blood pressure; tremors; nervousness; sweating;

frequent bowel movements

2. Rheumatoid arthritis

What it is Immune cells attack the membrane around joints, causing

inflammation. Symptoms Inflamed joints; loss of strength; swelling; pain

3. Hashimoto's thyroiditis

What it is Low levels of thyroid hormone Symptoms Mental and physical

slowing; weight gain; coarsening of the skin; goiter

4. Vitiligo

What it is A skin disease that destroys pigment cells and causes loss of

pigmentation symptoms White spots on the skin; graying hair

5. Type 1 diabetes

What it is Too little insulin produced by the pancreas symptoms Increased

thirst; increased urination; weight loss; fatigue; nausea; vomiting;

frequent infections

6. Pernicious anemia

What it is Failure to produce the substance needed to absorb vitamin

[b.sub.12] from the gastrointestinal tract, causing neurological problems

Symptoms Shortness of breath; fatigue; rapid heart rate; loss of appetite;

diarrhea; numb hands and feet; personality changes; impaired sense of smell;

bleeding gums

7. Multiple sclerosis

What it is A disease of the central nervous system symptoms Numbness;

weakness; tingling or paralysis in limbs; impaired vision; tremor; lack of

coordination; involuntary eye movement

8. Glomerulonephritis

What it is Destruction of the internal kidney structure Symptoms Bloody,

discolored or foamy urine; weight loss; fatigue; nausea; decreased

alertness; muscle cramps; seizures

9. Systemic lupus erythematosus

What it is An inflammation of the connective tissues; can attack every organ

system symptoms Fever; weight loss; hair loss; fatigue; seizures; sores or

rash; joint inflammation

10. Sjogren's syndrome

What it is Inability to secrete saliva and tears Symptoms Dryness of the

eyes and mouth; swollen neck glands; difficulty swallowing or talking;

perception of unusual tastes or smells; thirst; tongue ulcers; severe dental

problems

Dana Hudepohl is a writer in Tampa, Fla.

http://www.findarticles.com/p/articles/mi_m0846/is_7_22/ai_97875706