FAQs on X-linked carrier issues

What is lupus?

Lupus is an autoimmune condition caused by a fault in the body’s immune system. Normally the immune system produces antibodies to help fight infection. When someone has an autoimmune condition, antibodies are made which act against the body's own tissues, causing inflammation. These are called autoantibodies. They can cause skin rashes, joint pains and inflammation of internal organs such as the lungs, heart, nervous system and kidneys.

 

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How common is lupus?

Lupus is not an uncommon condition. Over 30,000 people have it in the UK – nine out of 10 are female. This means there’s a link between lupus and female hormones.

 

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How common is lupus in carriers of X-linked CGD?

A study published in 2007 indicated that 12 of 19 carriers studied had ‘lupus-like’ symptoms.

 

 

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What types of lupus are there?

There are two types. One is called discoid lupus erythematosus (referred to as DLE) and largely affects the skin. Another is systemic lupus erythematosus (SLE) and affects joints, the blood, lungs, kidneys, heart and nervous system.

 

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How do I know if I have lupus?

Lupus is usually diagnosed by a blood test. The test looks for particular types of autoantibodies including anti-nuclear antibodies (ANA) (all cells, except red blood cells, have a nucleus. Anti-nuclear antibodies form against the myriad of proteins etc that make up the nucleus, apart from the DNA) and double stranded DNA antibodies  (which make up genes and chromosomes).  The presence of these is characteristic of ‘classic lupus.’

Research by clinicians at Great Ormond Street Hospital has shown that carriers of X-linked CGD can have symptoms of lupus, known as ‘lupus-like symptoms’, but have either negative blood tests or only slightly positive blood tests. The lupus-like symptoms should be treated and taken seriously by medical professionals regardless of the results. The conclusion is that in CGD, carrier-related lupus testing for autoantibodies is not helpful, and diagnosis and treatment should be based on symptoms alone. 

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What symptoms of lupus should I look out for as a carrier of X-linked CGD?

The most common symptoms of lupus in carriers of X-linked CGD are photosensitivity, which means being very sensitive to the sun. The next most common features are mouth ulcers known as aphthous ulceration, joint pains and excessive fatigue and headaches.

The ‘lupus-like’ skin rash often develops over parts of the body which are exposed to the sun, such as on the face, wrists/hands and chest. Some people find that in the cold the skin on their hands can become very white or blue. This is sometimes referred to as Raynaud’s phenomenon – a recognised symptom of lupus. CGD carrier mothers can have problems with their joints, mostly involving pain and some swelling. Lupus-like symptoms are often associated with feeling very tired. This tends to come and go and people find that they have good and bad days.

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Do all carriers of X- linked CGD have lupus-like symptoms?

No, some X-linked carriers have no symptoms of lupus at all. Others can have very mild symptoms and some carriers might have more severe problems. Researchers don’t yet know exactly why lupus symptoms develop in some X-linked CGD carriers and not others. They believe other mechanisms may be at play, as well as carrying the genetic fault.

 

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If I have the symptoms of lupus what should I do?

You should tell your doctor that you are a carrier of X-linked CGD and that you are suffering from the symptoms of lupus. As a general rule it is important to give clinicians as much information as possible. The information often holds clues to help doctors reach a decision on the cause of the problem, helping diagnosis and treatment. Symptoms of lupus should be taken seriously because they can damage your long-term health by causing damage to your organs.

Contact the CGD nurse to discuss any concerns you may have or get some information for your doctor.

 

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Can lupus-related symptoms be treated?

Yes – very effective treatments can be given to alleviate the problems.  A doctor must prescribe medicines specifically for treating lupus symptoms.   People who have joint pain and skin rashes are often treated with creams for skin rashes (many contain steroids) or anti-inflammatory medicines. 

Some people find that anti-malarial drugs (commonly hydroxychloroquinine) are also effective in treating the symptoms of lupus, particularly the feelings of tiredness. People who have more serious symptoms may be treated with steroid tablets or other drugs that help restore a healthier immune system.

You may be referred to a specialist dermatologist or rheumatologist. People on these medications need to be monitored carefully, have regular blood tests and medication reviews with the doctor.

 

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I have the skin rashes, cold hands and tiredness associated with lupus. What can I do to prevent or treat these?

The skin rashes associated with lupus are often very sensitive to the sun. So it is probably best to avoid sun bathing and wear a high factor sun cream, of Sun Protection Factor (SPF) 25 or greater (this may be available on prescription from your GP) when you’re outside.

People who have problems with Raynaud's phenomenon should keep warm and wear thick gloves and socks or tights. Tiredness tends to come and go, so it's probably best to take a break and try and get some rest on bad days and make the most of good days.

 

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Why do researchers think X-linked CGD carriers get lupus?

We don’t know exactly but researchers believe that this is due indirectly to the lyonisation process (see above). White blood cells that carry the genetic mistake in CGD do not appear to die as quickly as ‘normal’ cells. One of the functions of certain white blood cells is to act as hoovers, clearing away cell debris and dead cells. This doesn’t work as well in CGD-affected cells. It may mean that there are extra dead cells in tissues that can cause inflammatory and abnormal responses in the body that show up as symptoms of lupus. Researchers believe that other genetic factors may play a role in the development of lupus.

 

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Is there any relationship between the percentage of white blood cells not working properly in carriers of X-linked CGD and the symptoms of lupus?

No, as yet, no clear-cut relationship has been found in research studies. But often in these studies the number of participants is small so we need to be cautious about interpreting data. Similarly, we don’t know if the numbers of non-functioning cells can vary over time.

 

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If having lupus is not that uncommon does that mean that some people with lupus could be carriers of CGD?

Yes, but the incidence is likely to be very low.  If a doctor sees a case that does not fit into the classical lupus criteria, they would ask more questions. They may take a history of illnesses in the family and consider testing to see whether the person is a carrier for CGD.

 

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Can symptoms of lupus become more prevalent during and after pregnancy?

There is not a clear correlation. Pregnancy can alleviate or worsen problems for many conditions. More research involving pregnant women who are carriers of CGD are needed.

 

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My daughter is a carrier and her dad has CGD. Does this mean she will suffer badly from lupus?

There is not enough information to judge at present the reasons why some carriers are affected badly and others do not show symptoms of lupus. Other genetic factors that are not known about at the moment may determine how severely someone is affected.

 

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I am a carrier of X-linked CGD and severely affected by lupus. Does that mean that my son with X-linked CGD will have severe CGD?

There is no evidence for a connection of this type at present. We believe that variations in an individual’s genetic make-up determine how severe CGD symptoms will be. Further research is needed.

 

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Is there a specific age when lupus-like symptoms will occur in carriers of CGD?

Symptoms of lupus can occur in some young children. In others, it may or may not come on later in life.

 

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I’m an X-linked carrier of CGD and one chronic health issue that I have been living with is chronic constipation and irritable bowel syndrome. Is there is any evidence that bowel issues are a symptom of CGD carrier status?

Yes although chronic constipation and irritable bowel syndrome [IBD] are problems seen in the general population there is some evidence to suggest they are linked to X-linked carrier status and these can be symptoms that carriers experience.  In a study involving 81 carriers, conducted by Dr Alex Battersby at Newcastle University, UK, 41 had bowel problems with 11 per cent having constipation and 8 of 81 having IBD.

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My wife is a carrier but has not yet shown any signs of having lupus. Is it possible that it could develop as she gets older?

It’s hard for us to know but this is unlikely. 

 

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