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DOCTOR's Q&A What is Christmas Disease - and How Can It Be Stopped?

Posted on: Monday, 26 December 2005, 09:00 CST

By DR MARY CHURCH

Q What is Christmas Disease?

A Christmas Disease is a form of haemophilia. It is a bleeding disorder resulting from a congenital deficiency of one of the essential factors, factor IX, needed for normal blood clotting. Women have two X chromosomes whereas men have only one X chromosome and a Y chromosome, which makes men men.

The abnormal gene is carried on the X chromosome. It is a recessive gene which means it usually has no effect unless paired with a similarly mutated gene. As the X and Y chromosomes on males are completely different then every characteristic carried on the single X chromosome will express its effects.

Christmas disease is therefore much more common in males, affecting one in 30,000 of them, and it can vary in severity from very mild to severe.

It presents with recurrent haemorrhage into joints or soft tissues which could be spontaneous or after operations or other trauma.

Treatment of the bleeding tendency is by intravenous infusion of factor IX concentrate. Correctly treated, people with Christmas Disease can enjoy a normal life span and social and professional ambitions.

Q I have decided to stop taking my lithium. I have been on it for a few years now but I feel much better. My question is to ask whether it's safe to stop suddenly or should I tail it off?

A It is not a good idea for you to stop taking your lithium without consulting your doctor or psychiatrist first. Lithium is used to treat manic depression and once diagnosed tends to be lifelong.

Your medication has helped you to feel much better; stopping it could be very dangerous and you could become ill again.

It is quite common for people with long-lasting medical conditions to conclude there is no longer a need to take their medication when they feel well again. Most of the time stopping it results in a relapse.

If you no longer wish to take your prescription drugs I strongly advise you to talk about how you're feeling with your doctor. Together you can evaluate your continuing need for lithium and whether or not it is still the best drug available for you.

Over the past few months my husband, who's 52, has started having headaches during sex. His father, who had high blood pressure, died of a heart attack in his 40s and his grandmother died of a stroke. He won't go to the doctor and he hasn't been for years. What can I tell him that might convince him to go?

A Your husband is typical of many men in this age group who do not attend their doctor often enough. With his family history it is essential that he should at least have his blood pressure checked and his cholesterol measured.

The problem you're worried about is called coital cephalgia and can be quite transient, lasting only a couple of minutes, or for about 20-30 minutes, or lasting hours or days.

For most men, the condition will settle down but pre-existing problems such as high blood pressure, migraines or psychological factors make it more likely. He does need to see a doctor, however, to verify the existence of these or any other conditions which could contribute to his symptoms.

Treatment is usually with a beta blocker, a drug which lowers blood pressure which often accompanies this type of headache. In addition, one of the stronger non-steroidal antiinflammatory painkilling drugs is usually prescribed.

Q My doctor told me I had a low haematocrit - I'm not quite sure what that means. I'm 48 and have been passing black stools. Apart from a bit of indigestion, I feel very well. He's referred me for an endoscopy. Could you tell me what might be wrong? I was afraid to ask as I'm worried I might have cancer.

A It is quite understandable when you have such symptoms that you imagine the worst. But you really should tell your doctor how you're feeling because he will be able to allay your fears.

The presence of black stools suggests you are bleeding in the upper part of your gastrointestinal tract. It is called melaena. When bleeding occurs here, there is a reaction between chemicals in the upper part of the gut and the blood which leads to this characteristic black, tarry appearance of the stool. The haematocrit is a measure of the number of blood cells per unit volume of blood and will be decreased because of the bleeding.

An endoscopy allows the clinician to pass a flexible tube into the upper gastrointestinal tract. The tissue will be visualised and if needed, a small biopsy can be taken for examination.

Most commonly it is caused by stomach or duodenal ulceration. From your symptoms this is the most likely diagnosis. Although 20per cent of people with melaena require surgery, most with ulceration can be treated with effective oral medication.

Source: Herald, The; Glasgow (UK)

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