And It's About Time There Was Some Support For Cushing's!
By JANE E. BRODY
When a disease is uncommon, its symptoms diffuse and its usual victims female, the correct diagnosis is too often overlooked by one doctor after another and patients are labeled nuisances or referred to psychiatrists. So it is with two rare disorders of the adrenal glands: Addison's disease and Cushing's syndrome. Both are deadly without proper treatment. The deaths of two women underscore the need for patients as well as doctors to recognize the symptoms of adrenal malfunction before it is too late. Their last names are being withheld at their families' request.
Lynne, 33, of Australia, a wife and mother of three small children, had frequent bouts of various infections. She was often very tired. Her skin had darkened over the years. Her health problems were variously attributed to her pregnancies, a hectic life and exposure to her children's infections. One day, she started vomiting and could not stop. The next day, she collapsed in a coma and was rushed to the hospital, where a belated diagnosis of Addison's disease was made. Unfortunately, many organs had failed by then. Her brain was severely damaged, and she died after three days on life support.
Maria, a Polish immigrant who lived with her husband in Ann Arbor, Mich., had a textbook case of Cushing's syndrome that went undiagnosed for at least 10 years. She had become seriously overweight and round-shouldered and suffered from edema, sleep disturbances, extreme fatigue, high blood pressure, excess facial hair, dizziness, moodiness, tearfulness, severe headaches and muscle cramps in her legs. Blood tests revealed high levels of sodium and low levels of potassium.
Various doctors gave Maria medications for her individual complaints and she was told to diet, eat less salt, walk more and worry less about her symptoms, which, she was often told, were "in her head." When she was in failing health, she was at last persuaded to go to a university hospital, where the proper diagnosis of Cushing's syndrome, caused by a malignant tumor on her adrenal gland, was finally made. Maria died at 47, the victim of medical ignorance.
Vital to Life
The triangle-shaped adrenal glands sit on top of the kidneys, where they spew forth
hormones in response to various body signals. The catecholamine
hormones, including epinephrine (adrenaline) and norepinephrine, come from the medulla, or middle, of the gland. They play an important role in controlling heart rate and blood pressure and are released when the body needs to spring into action to sprotect itself from harm. But since other body tissues also produce catecholamines, life can go on even if the adrenal medulla fails.
The outer layer, or cortex, of the adrenals is another story. It produces three groups of corticosteroid hormones, two of which have myriad functions that are essential to life: aldosterone keeps the kidneys from losing too much of the body's sodium and water, and cortisol, which enables the body to get energy from carbohydrates, maintains blood pressure and protects the body at times of physical stress. The third group, the sex hormones, are also produced by the testes and ovaries.
Addison's Disease
Addison's disease, which afflicts 39 to 60 people out of every million, results from a gradual destruction of the
adrenal cortex, usually from an autoimmune disorder in which the body attacks its own tissue. The diagnosis is often tricky because the symptoms typically develop and worsen over a period of years. Most characteristic is a gradual darkening of the skin and mucous membranes. But with symptoms like loss of appetite and weight, fatigue, nausea and vomiting, diarrhea, dizziness and abdominal pains, patients are often mistakenly thought to have anorexia nervosa. Patients with
Addison's disease may also experience intense salt cravings. One woman said her favorite food was "Lipton noodle soup with a jar of pickles, juice and all, dumped into the soup."
Without a diagnosis and appropriate hormone replacement, Addison's disease can result in extreme weakness, shock and death in response to even a minor infection. More serious stresses, like surgery or childbirth, are often life-threatening. President John F. Kennedy had Addison's disease and was treated for years with corticosteroids, although that was never disclosed to the public during his lifetime.
Once Addison's disease is suspected, it is not hard to diagnose. The patient is given an injection of ACTH (adrenocorticotropic hormone), the pituitary hormone that tells the adrenals to release corticosteroids, and the resulting amount of cortisol is measured in the blood and urine. Once the disease is properly diagnosed, patients must take hydrocortisone or cortisone twice a day for life. Some patients must also take a synthetic form of aldosterone, fludrocortisone.
Everyone with Addison's disease should also wear a Medic Alert-type bracelet or necklace that warns of the condition and carry a card with instructions about what to do in case of an emergency. Hormone doses must be doubled or tripled at times of fever-inducing illness or injury. Also, patients can be given ampules of injectable steroids or suppositories to use in case of an illness that causes vomiting.
In Cushing's syndrome, which occurs in 5 to 25 people per million, there is an excess of adrenal steroids in the blood. This most often results from large doses of corticosteroid drugs taken over a long period to treat another illness, like rheumatoid arthritis or asthma. However, sometimes the adrenal glands themselves produce too much cortisol or, as in Maria's case, an adrenal tumor sis the source of excess hormone. Sometimes a tumor occurs in the pituitary gland, resulting in an excess of the hormone that stimulates cortisol release. The latter condition, which is very rare, is called Cushing's disease; it mainly affects young to middle-aged women.
Symptoms come on gradually, over a period of months. The face becomes fatter, round and red. The body, too, accumulates fat, especially a pad of fat between the shoulder blades that causes a round-shouldered appearance. Muscles in the arms and legs atrophy, and bones become thin and easily fractured. Fatigue, weakness, blotchy skin and bruises are common symptoms.
Treatment depends on the precise cause. Pituitary tumors are treated with surgery or radiation. Adrenal tumors usually require the surgical removal of the entire affected gland, but normal hormone function can be maintained by the remaining healthy gland. For someone who develops Cushing's syndrome because of steroid medication taken for another illness, the doctor will have to adjust the patient's dosages or find an alternative remedy. But a patient should never stop steroid drugs without a doctor's advice; steroid drugs must be tapered off gradually under medical guidance to avoid sudden adrenal failure.
