On the occasion of Lupus Awareness Month, Fiona Galea Debono discovers what "the disease that has 1,000 faces" is all about.

Not many people are aware of lupus - a disease of the immune system, predominantly affecting young women. And lack of awareness, coupled with the fact that it presents so many faces and mimics other diseases, can mean delayed diagnosis, prolonged suffering and wrong treatment.

That is why the Lupus Support Group Malta has been set up. It has around 45 members but about 120 of the patients who frequent the Rheumatology Clinic at St Luke's Hospital also suffer from lupus.

It is calculated that the prevalence of the disease in Malta works out at about one patient per 3,000 people, says Carmel Mallia, a consultant physician and rheumatologist at St Luke's Hospital and Professor of Medicine at the University of Malta.

The island sees around two to three new lupus cases every year.

What is lupus erythematosus?
Lupus is a disease of the immune system, which under normal conditions attacks and destroys cells that are foreign to the body. In the case of lupus, however, the immune system loses the ability to tell the difference between foreign intruders and the body's own cells. As a result, it starts to produce antibodies against the body's own tissues. These are known as auto-antibodies, which, in severe forms of lupus, can cause damage to various organs, including the kidneys, joints, skin, lungs, heart and brain.

"The situation is very similar to a football player scoring a goal against his own team (an auto-goal), thereby damaging his own team, instead of the opposing one," explains Prof. Mallia.

"Although we know that the immune system is at fault in lupus, we do not know what the actual cause of the disease is. It seems to be due to environmental factors (such as previous infections), the balance of hormones, as well as genetic factors. However, what is sure is that lupus is not inherited."

There are, as yet, no genetic tests available to determine who is susceptible to the disease and who is not - an area of current research.

There are different types of lupus, ranging from discoid lupus erythematosus, which only affects the skin, to systemic lupus erythematosus, SLE, which may affect many different systems of the body. It is to the latter that people are referring when they speak of lupus, Prof. Mallia points out.

Since lupus commonly affects different body systems, it may mimic other diseases, such as multiple sclerosis and rheumatoid arthritis, and may be difficult to diagnose, particularly in the early stages of the disease, Prof. Mallia explains.

Lupus tends to develop slowly and to evolve over time. Symptoms may come and go, although patients rarely feel entirely normal, even between attacks, which are called flares.

Symptoms:
The clinical features of lupus may be extremely varied - which is not surprising since it may affect practically every system in the human body.

¤ Skin rashes, most commonly present over the face (involving the bridge of the nose and the cheeks), and commonly referred to as a "butterfly" rash, are probably the most well-known signs of lupus.

¤ Most people complain of increasing tiredness and being easily fatigued, meaning that even everyday chores become a major task.

¤ Patients may also start running low-grade fever for no obvious reason.

¤ Pain, swelling and stiffness in joints are very common occurrencies: doctors may dismiss this as arthritis, but careful clinical examination and special tests can confirm whether the joint symptoms are due to lupus or not.

¤ Lupus patients tend to be very sensitive to sunlight: if they are exposed to the sun, sometimes even for short periods, they may develop severe heartburn and other rashes, and sometimes also get exacerbations of their systemic disease.

¤ They may also lose an inordinate and alarming amount of hair, especially during the active phase of the disease. (But this can be reversed with appropriate treatment.)

¤ Skin and joint problems are, by far, the most common symptoms of lupus. However, internal organs may also be involved, as well as the membranes covering the heart and lungs.

¤ Patients may also complain of frequent headaches and, although rarely, can even develop epileptic fits and strokes.

¤ A common feature is called Raynaud's phenomenon, where the fingers or a whole hand may suddenly go deathly white when exposed to cold temperatures eventually regaining normal colour once it is warmed again.

¤ It is not uncommon for lupus patients to become quite anxious and depressed, maybe due to the other symptoms of lupus (for example, hair loss in a young female), but also due to the disease itself.

Lupus and women
Lupus is a predominantly female disease. In fact, it is about 10 times as common in women as it is in men, Prof. Mallia highlights.

Since it commonly occurs in women during their child-bearing years, it may have effects on their pregnancy and the baby. If the disease is active and severe, it may not be possible for the woman to conceive, or she may develop repeated miscarriages.

In rare cases of lupus, the baby may be born with a transient skin rash, or with irreversible heart problems, while some forms of treatment may have a deleterious effect on the baby as well.

Prof. Mallia advises that it is important for lupus patients who wish to become pregnant to seek expert advice both from the rheumatologist and the obstetrician, especially since a number of these problems can be dealt with if addressed at an early stage, preferably even before the patient embarks on a pregnancy.

Treating lupus
The severity of lupus may vary enormously - from being a mild to a very serious and potentially fatal condition, Prof. Mallia explains. In the past, lupus was considered to be a fatal disease and, up to the late 1940s, about 80 per cent of patients would be dead within two years.

The situation is, however, much more satisfactory nowadays: 90 per cent are alive and well after 10 years, and a considerable number can expect to live a normal lifespan, Prof. Mallia states.

The improvement is, in part, due to increased clinical awareness and the availability of more sensitive tests to diagnose milder forms of lupus.

However, it is also due to the availability of better treatment, both for the disease and the complications that result from the disease (such as renal failure, which nowadays can be treated through dialysis and transplants) and its treatment (especially infections,which can be treated with effective antibiotics).

Although a real cure for the disease is not available, current medications can control its activity and limit the damage it causes to the various organs, while ongoing research is providing newer and more effective drugs to control the disease, Prof. Mallia says.

Since the medicines used in lupus may have serious side effects, the treatment of lupus should be undertaken by specialists, who are experienced in the disease, he advises.

Doctor's orders:

¤ Patients with lupus should keep out of the sun since this can flare both the skin and, sometimes, internal organs.

¤ They should use SPF 25, or even stronger sun-blocking cream when going outdoors.

¤ Since they may be more susceptible to infections, especially if they are taking drugs that suppress the immune system, they should take sensible precautions, such as avoiding crowded places and contact with people who have infectious diseases.

¤ Although some vaccines can make autoimmune diseases worse, use of the influenza vaccine appears to be safe in lupus patients. In fact, it is recommended that they receive a flu shot every year.

Living with Lupus

When Victor Grech, 64, was diagnosed with Lupus 19 years ago, he had no idea what it was. A 45-year-old father of two young children, he had to retire a year later due to the fact that he was in and out of hospital.

He is considered to be a "walking test case" of lupus - one of the few male sufferers as 90 per cent are women.

"My life changed completely," he categorically states.

"I started with pain in my finger joints, but I didn't really bother about it. It was assumed I had arthritis and I was prescribed painkillers. Three months later, however, following much fainting, I was rushed off to hospital.

"The thing is, I didn't have that butterfly rash on my face, so my lupus was even harder to diagnose."

Mr Grech may have avoided the unsightly rash, but his lupus affected his heart and lungs; he had problems breathing, was even given the last rites and his family was warned to expect anything.

"My new birth date is September 11, 1986, when I was diagnosed," he states, having been on the verge of death. He had such serious problems that had he not been diagnosed, he would probably not have been here today, he knows.

"My turning point came five years after my diagnosis, when I underwent a heart operation to remove the pericardium (the cover of my heart) because there was fluid between it and the heart," he explains, today very familiar with all the medical terms.

Since then, Mr Grech's condition has been kept under control with the help of steroids. These, however, come hand in hand with numerous unpleasant side effects, among which was an infection in his lungs, while a hip replacement is in the pipeline.

"When you have accepted it and then find yourself being in hospital for the treatments you are undergoing, it can make you mad," he points out.

But today, his dosage has been decreased and he is no longer as fat as he had become. "I used to have a moon face and had literally blown up."

Although the word normal does not seem to enter Mr Grech's vocabulary - "I have a hard time just putting on my shoes" - he feels he is better off than those patients whose lupus has affected their kidneys and are, therefore, waiting for a transplant. "The worst is when it attacks the brain," he says, based on what he has read.

"I regret having quit my job but lupus makes you tired and I would have regular flare-ups... I could not wash myself; I used to have to ask my wife to help me. Then, two days later, I would be fine; and again it would hit. You just have to accept it!"

Mr Grech first joined the UK support group and then its Malta counterpart when it was set up in 2000. "I asked my wife whether I should go because I knew that it was a disease that mostly affects women and I thought I would be the only man."

He has never looked back since, attending practically every single monthly meeting.

Being informed has been a great help, he maintains. "I didn't even know what steroids were... Can you imagine how I felt when I was first told that I had a women's disease? Even the nurses did not know what lupus was...

"You think you're the only sufferer, so when you meet other people, you realise you are not alone, you learn from others about their symptoms, and you support each other.

"There are many, however, who don't want to join the group because they don't want to admit they are sufferers, and that is the worst. I encourage patients to join."

Need help?

The Lupus Support Group Malta was set up in 2000. Its aims, as highlighted by Ian Lochhead and his wife Elizabeth, chairman and secretary respectively, are the following:

¤ to support sufferers, "because lupus is a lonely disease, difficult for doctors and individuals to understand. Meeting other people is, therefore, very important."

¤ to promote awareness among the medical profession and also the public. "They may think it is contagious and not want to work with sufferers, for example."

¤ to encourage and raise money for research. "There has been no new drug for something like 20 years and the steroids used have serious side effects."

Mr and Ms Lochhead lay stress on the importance of raising awareness of lupus among GPs. One of their messages is, indeed: start thinking about lupus if four of the symptoms - be they fatigue, joint pains, a rash, photosensitivity and miscarriages - are apparent, not necessarily all at the same time, but in a relatively short period.

The idea is for GPs to be much more aware of the likelihood that, together, these symptoms could indicate lupus. Simple blood tests could then confirm the diagnosis, Mr Lochhead points out.

Unfortunately, patients tend to go through a long examination period.

The support group has around 45 members, while other sufferers in Malta may feel that the less they know about lupus, the less they have to worry about, says the couple.

"It may not be the most intelligent reasoning, but it is understandable."

As many as 90 per cent of sufferers are women, but the support group's first member was a man, whose heart is infected.

"The problem is that most of the time, sufferers look perfectly healthy and, therefore, can be considered to be lazy. Understanding is very important," the couple stress.

Lupus cannot be cured, but it can be treated and the symptoms contained.

Nevertheless, "there is a very bright spot on the immediate horizon," Mr and Ms Lochhead point out. Canadian researchers are looking at adapting drugs that are already in existence for treating lupus, and they envisage a significant breakthrough within the next five to 10 years.

The support group's next fund-raising activity is scheduled for December 9, when it is organising a candlelit dinner at the Coastline Hotel, Salina. It is looking for a suitable raffle prize for the event. For more information send an e-mail to elizian@vol.net.mt, or call on tel. 2137 0234, or 2131 1310.

A 'success story'

Despite the fact that Margaret Fresle, 59, started suffering from lupus as a child, she is considered to be a "success story".

At 14, she could not walk, or write, and her mother was told that lupus sufferers did not live long. So she decided to get married young - at 16. Ms Fresle's lupus affected the course of her life, but she has no regrets.

Today, she is playing with her grandchild, still happily married to the Welshman whom she considers to be her hero.

"Part of the reason I am here today is my husband. He carried me through it. Even now, he does the housework."

Ms Fresle had five miscarriages - another symptom of lupus - but when she was prescribed anti-malarial pills, her situation improved dramatically and the horrible rashes never returned. It was a turning point in her life.

"I have had complications, including blood clots; I cannot write; I walk with a stick; and although the sun is bad for me, I could not cope with the cold in the UK and had to stay in bed because my joints were so bad.

"Since I came to Malta four years ago, I feel much better, although I keep out of the sun. You cannot cure lupus, but I am in remission.

"For the first 30 years, my life was pretty rough and various things went wrong. Most of it was put down to lupus. But the past 10 years have been all right.

The tiredness is still a problem. "Cooking dinner in the evening leaves me totally exhausted. But I am better than I was.

"One learns to live with the disease. I think you just have to try and get up and get on with it, difficult as it may be. I managed to run a business - I did have a good manager, but I am still quite proud."