DEAR DR. DONOHUE: My 19-year-old grandson has been tentatively diagnosed with alpha 1 antitrypsin deficiency. I understand it is a disease of the liver and lungs. Would you explain what you can about it? I also understand there is no cure. What is the treatment? – G.G.

Alpha 1 antitrypsin deficiency causes emphysema, but it is a rare cause of it. Emphysema is a disruption of the air sacs through which oxygen passes into the blood, and carbon dioxide – a waste product of body metabolism – passes out of it to be exhaled. Cigarette smoking is the No. 1 cause of emphysema. The antitrypsin enzyme deficiency is responsible for, at most, 2 percent of all emphysema patients.

Trypsin is an enzyme that keeps air sacs clean. It’s the lungs’ janitorial service. Trypsin keeps scrubbing the air sacs even when there’s no need to do so. The exuberant scrubbing damages the sacs. Antitrypsin rushes in to turn off trypsin’s scouring to prevent air sac destruction.

Although the lung is the primary target of antitrypsin deficiency, the liver can also be affected. It’s the organ that makes antitrypsin. In this illness, the antitrypsin doesn’t leave the liver. Retention of the enzyme damages the liver and can eventually produce cirrhosis. However, severe liver damage occurs in only one-quarter of those with the defect.

What happens to people depends on the magnitude of the enzyme deficiency. Some manage quite well, while others progress, in time, to severe disease. Determination of the enzyme’s blood level allows for a better estimation of what will happen to an affected person.

Treatment consists of restoring the enzyme through intravenous infusions of it every week. It’s not a cure, but it helps control damage. Replacement of the enzyme doesn’t undo liver injury.

The illness is a genetic illness. Both parents contribute a gene to the affected child.

DEAR DR. DONOHUE: I have been on Fosamax and then Actonel for osteoporosis. My doctor suggested I go on Forteo because of the poor results on my bone density tests. I am 70 and take medicines for high blood pressure and elevated cholesterol as well as thyroid replacement hormone. I have been a diabetic for 30 years. In your opinion, am I getting the right advice to take Forteo, considering all the other medicines I take? – Y.S.

Forteo is a medicine made for people like you – those who don’t get results from the more commonly prescribed osteoporosis medicines: Fosamax, Actonel, Zometa and Boniva.

It’s lab-made parathyroid hormone, the hormone that regulates calcium balance and affects bone-building. Forteo stimulates new bone formation by activating bone-building cells and by providing more calcium to bones.

It’s been approved for use since 2002, giving it five years of use, enough time that serious complications from it would have been reported. It won’t interfere with any of your other medicines.

Forteo comes with a warning that gives some people pause. The warning states that it has caused bone tumors in laboratory rats. The rats were given doses much higher than the normal human dose. No bone tumors have arisen in any human users.

The medicine is given by an injection under the skin, much like insulin is given. A self-injecting device makes it easy to administer.

The only drawback to Forteo is its price.

DEAR DR. DONOHUE: Years ago, when I had to take sulfa, I got a terribly itchy rash. The doctor told me never to take it again. I read labels that list the ingredients in foods. I find sulfite is in many. Does an allergy to sulfa make you allergic to sulfite? – D.D.

No. They are two completely different compounds. Both have sulfur in them, but there is no cross reaction between the two.

Sulfites are preservatives. Some people are allergic to them. They must read labels carefully to avoid ingesting it.

DEAR DR. DONOHUE: What are the health consequences of a thyroid gland that has completely shut down? – B.R.

The consequence is hypothyroidism – too little or no thyroid hormone. Thyroid hormone keeps all body systems running at optimal speed. Without it, everything slows to a snail’s pace. People have no energy. They gain weight while eating few calories. Their skin and hair dry. Hypothyroid people feel cold when others in the same room are comfortably warm. The heartbeat slows. Menstrual periods are disrupted. Constipation is common. Sometimes the voice becomes hoarse. Sweating decreases.

All of the above is reversible by giving the hypothyroid patient thyroid hormone in pill form.

FOR MRS. SCHACK’S CLASS: serpentine – snakelike; hypothyroid – too little thyroid hormone; millimeter – one thousandth of a meter; permethrin – a scabies medicine that paralyzes the mite by disrupting its nerve transmission.

Dr. Donohue regrets that he is unable to answer individual letters, but he will incorporate them in his column whenever possible. Readers may write him or request an order form of available health newsletters at P.O. Box 536475, Orlando, FL 32853-6475. Readers may also order health newsletters from

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