Are you looking for more information about lupus?

Introduction

Lupus explained by Idorsia

“The symptoms are completely unpredictable – one day you feel well and the next day you feel terrible. Before my diagnosis, I would make an appointment with the doctor, but by the time I got there, the symptoms would have gone.”

- Patient

Systemic lupus erythematosus – known more simply as lupus – is an autoimmune disease, which means that the body’s immune system malfunctions and attacks the body's own tissues. Some autoimmune diseases affect just one organ, but in the case of lupus, all parts of the body can be affected.

As a result, its symptoms vary widely and are often similar to lots of other conditions, which need to be ruled out before a diagnosis is made. Lupus therefore often goes undetected or misdiagnosed for long periods of time. Yet early diagnosis is important to manage the symptoms of lupus, introduce treatment to reduce the risk of long-term complications of the condition, and to enable those affected to access wider support such as that of local patient groups.

The disease can range from mild to life-threatening and can randomly become worse (so-called 'flare-ups') and then better again, which can make living with lupus unpredictable and its impact on day-to-day life wide ranging.

Despite several high-profile celebrities sharing their diagnosis of lupus publicly, awareness of the condition remains low and misperceptions and stigma continue to affect people living with it.

Understanding lupus

Lupus explained by Idorsia

“There is a stigma attached to lupus. I always talk about my illness and explain it to people first; I tell them it’s an autoimmune disease but it’s not contagious and I can’t pass it on to them.”

- Patient

What is lupus?

Lupus is an autoimmune disease, which means that the body’s immune system malfunctions and attacks the body's own tissues, causing inflammation and damage.

As this immune response can occur anywhere in the body, any organ can be affected: most commonly the skin, joints, blood cells and lungs, as well as the brain, heart and kidneys. It is important to remember that just because lupus can affect any part of the body, it doesn’t mean that it will and the number of organs affected and corresponding symptoms can vary dramatically from person to person.

  • + Types of lupus

    There are a few different types of lupus, although the most common one is systemic lupus erythematosus, to which people refer to simply as ‘lupus’.

    • Systemic lupus erythematosus (SLE) is so called because it affects many different systems in the body. As it can affect all parts of the body it is usually considered more serious than the other types.
    • Cutaneous lupus is a form of lupus that only affects the skin. It causes many types of rashes and lesions that are typically found on the face, neck, and scalp. The most common, called a ‘discoid rash’, is raised, red, and scaly, but not itchy. While most people with cutaneous lupus will never experience symptoms elsewhere, a small minority of people will go on to develop SLE.
    • Drug-induced lupus occurs as a side effect of some medications. The lupus-like symptoms usually disappear once the person stops taking the medication.
    • Childhood lupus is the name given to SLE in children. Compared to the adult form, childhood lupus tends to affect certain organs such as the kidneys to a greater degree and often requires more aggressive treatment.
    • Neonatal lupus is not a true form of lupus as it is caused by antibodies from the mother acting on the baby in the womb. It typically causes skin rashes that disappear within a few months, often without the need for any treatment. Some babies with neonatal lupus can also be born with a serious heart defect, which requires separate treatment.

How common is lupus and who gets it?

It is believed that 5 million people worldwide have a form of lupus. Although it affects people of all nationalities, races, ethnicities, genders, and ages, there are certain groups with a much higher risk of developing the condition.

As much as ninety per cent of diagnosed cases are in women. Lupus particularly affects females during their childbearing years, with its occurrence increasing after puberty and decreasing after menopause.

Given its genetic disposition, a female first-degree relative (a sister, daughter or mother) of someone with lupus may be considered six times more likely to develop the disease themselves compared to those with no family history of lupus.

As well as affecting more women, lupus is also more common in people of Afro-Caribbean and Asian origin compared to Caucasians and is likely to affect these ethnic groups more severely as well.

What causes lupus?

It is not fully understood what causes lupus, but scientists agree that it is likely to be the result of a combination of contributors, including genetic, hormonal, and environmental factors.

Lupus is much more common in women than men, a difference that has been shown to be related, at least in part, to the female hormone estrogen.

While lupus is not directly ‘inherited’ in the same way as other genetic diseases that are passed from parent to child, the existence of certain genes that run in some families, genes that affect how the immune system works, puts some people at an increased risk of lupus.

Research suggests that some viruses may be linked to the development of lupus. These include the Epstein-Barr virus (EBV, which causes mononucleosis or “mono”), herpes zoster virus (which commonly causes shingles), cytomegalovirus, and HIV (human immunodeficiency virus). Further research is needed to understand how these infections may contribute to the risk of the disease.

Although most causes of lupus are entirely out of an individual’s control, cigarette smoking has been linked to the development of multiple autoimmune diseases, including lupus. For this reason (and many other health reasons), stopping smoking is advisable.

Signs and symptoms of lupus

“During a flare, fatigue can prevent us from doing the most simple, everyday things such as taking a shower, brushing our hair, brushing our teeth, getting dressed or getting out of bed.”

- Patient

Some of the symptoms of lupus are non-specific to the disease and, depending on which part of the body is affected, can be mistaken for other conditions, leading to misdiagnosis.

Some people may experience many different symptoms, some only one. This can also change over time, with symptoms flaring up and improving for periods of time.

What is the outlook for people with lupus?

While there is no cure for lupus, treatment is available to manage the symptoms and reduce the risk of more serious complications.

It is hard to predict how lupus will affect each individual. Early diagnosis is important so that patients and their families can access support as soon as possible and manage the risk of more serious complications affecting vital organs.

Diagnosis and management of lupus

Diagnosis and treatment of lupus by Idorsia

“My initial reaction when I was told I had lupus was relief – I finally had an answer that made sense and now I could fight it. It scared me because there’s no cure, but I could figure out what medication may help me with it, I could join a support group, I could talk to people who have it to really figure out what it was and what it was doing to my body.”

- Patient

There is no single test for lupus and, depending on the individual’s symptoms and circumstances (for example, where they have relatively isolated and not specific symptoms and where no family history of the condition is known), a diagnosis can be very challenging.

Lupus is often described as ‘the great imitator’ as its symptoms can appear like other diseases, which often have to be ruled out first before a diagnosis of lupus is made.

For example, someone who goes to their doctor because they are experiencing fatigue and joint pain would likely be considered to have arthritis, and it is only when non-arthritic symptoms start to appear, such as a rash on the face or kidney problems, that an underlying cause of lupus may be suspected.

  • + What tests are used to diagnose lupus?

    An assessment for lupus requires a careful history and physical examination, along with specific laboratory tests to identify signs that are typical of lupus or that suggest a different disease altogether. Patients will therefore have a combination of the following tests to reach a diagnosis of lupus:

    • Physical examination: to check for signals, such as rashes or arthritis.
    • Blood test: a number of different blood tests are used to check for blood cell count, different antibodies and protein levels that may be higher in some forms of lupus.
    • Urine test: to detect blood or proteins in urine that may indicate signs of kidney problems.

    Depending on what symptoms a person is experiencing or which organs a doctor might think are involved, people may also undergo other tests. Examples include:

    • X-ray: to examine the inside of the body, mostly bones and joints, although it can also be used to detect problems affecting soft tissue such as internal organs.
    • Chest scan and echocardiography: to check for an enlarged heart or any other heart or vascular abnormalities.
    • Ultrasound (or sonogram): a scan that uses high-frequency sound waves to look inside the body.
    • MRI scan: to detect changes in the brain or other internal organs.
  • + Family history
    • Although genes certainly play a role in lupus, they do not determine who develops the condition and there is no single gene that is associated with lupus.
    • This is proven by the fact that even if one identical twin has lupus, the chance of the other having lupus is only 25%.
    • As such, it is not considered worthwhile for all family members to be screened for the condition if a relative is diagnosed with lupus.
    • However, if someone with a known family member with lupus starts showing symptoms themselves, then they should speak to their doctor.

What treatments are available for lupus?

There is no cure for lupus, however most people with lupus are prescribed a combination of different medications to manage their symptoms, improve their quality of life, and reduce the risk of more serious complications.

The choice of treatment is dependent on the preferences of the person with lupus, which part of their body is affected, and the severity of the condition at the time. Given the changing nature of lupus, regular monitoring by a rheumatologist (and often a wider multidisciplinary healthcare team) is needed to review the best treatment course for the individual.

Research into new treatments for lupus itself is ongoing and may lead to new options becoming available for people with lupus in the future.

  • + Which healthcare professionals are involved in the treatment of lupus?

    The main physician for someone with lupus will typically be a rheumatologist, who treats diseases that cause inflammation and swelling. Depending on other symptoms, a range of healthcare professionals may be involved in the care of patients with lupus, including:

    • Nephrologists (kidney specialists)
    • Dermatologists (skin specialists)
    • Cardiologists (heart specialists)
    • Hematologists (blood specialists)
    • Hepatologists (liver specialists)
    • Gastroenterologists (specialists in digestive disorders)
    • Neurologists (specialists in the nervous system)
    • Endocrinologists (hormone specialists)
    • Pediatricians (specialists in the care of children – if lupus is diagnosed in childhood)
    • Nurse specialists
    • Psychiatrists
    • Psychologists

Burden of lupus

insomnia gets in the way of everything

“I advise other patients to keep a diary of their symptoms to discuss with their healthcare professional. I only remember what has happened with my lupus in the last couple of days, not what has happened in the last 6 months, so I write it down.”

- Patient

The burden of lupus can differ drastically from person to person, from the actual physical effects of the disease, to the wider emotional and social impact of the condition on an individual and their loved ones. It is important to know that this is to be expected and there are many forms of support available.

“From the outside we are completely healthy, so patients need to decide whether or not to tell people they are ill. Some employees may be at risk of losing their jobs or being discriminated against. If they decide not to tell anyone at work, then they need to act as though they are completely healthy, which is not always possible, because they may need to rest during the day. It is not easy to find a compromise.”

- Patient
  • + Work and employment
    • Given the unpredictability of its symptoms and the impact of severe fatigue on productivity, Lupus can impact a person’s ability to work either full time or at all. Many people benefit from talking about their condition with their employers who may be able to offer more flexible working arrangements to suit their changing needs.
  • + Studying
    • While lupus in childhood is uncommon, for those who are affected the condition can cause problems with memory and concentration, as well as physical symptoms. Time off for illness and hospital appointments may also be needed, all of which can affect a child’s performance in school.
    • During flare-ups, students may need to rest or be excused from certain classes, such as physical education. Making teachers and school staff aware of the condition as an underlying issue is helpful to make this process as simple as possible.
  • + The emotional impact of diagnosis and symptoms
    • There is a higher incidence of depression and anxiety in those affected with lupus compared to the general population. It is thought that the uncertainty of a lupus diagnosis, combined with fatigue, pain and its treatment, all contribute. Seeking professional psychological help can be an important step for overall wellbeing.
    • Many people struggle with the ‘invisibility’ of the disease. While others who have visible symptoms such as marked rashes on the face or weight-gain from steroid treatment experience self-esteem issues.
    • While flare-ups can be linked to periods of distress, the unpredictability of the condition, even when symptoms are not present, plus the impact of disability on work and the family dynamic, can all contribute to the long-term psychological impact of lupus.
  • + Contraception and pregnancy
    • Certain hormones may be linked with flare-ups of lupus symptoms, so women wanting to take contraceptive pills should speak to their doctor about the options that are most appropriate for them.
    • Pregnancy in women with lupus carries a higher risk for the mother and baby compared with pregnancy in women without lupus. Women with lupus should talk to their doctor before trying to get pregnant to discuss these risks and any necessary changes to medication.

Practical guidance on managing lupus

Practical guidance on managing lupus by Idorsia

“You have to find a way to cope and make changes to your lifestyle – you learn how to live life the best way you can with lupus. You have to get as much rest as you can, but on the other hand you have to try not to let it stop you doing anything.”

- Patient

In addition to treatments to manage the symptoms of lupus, there are many things people living with lupus can do to help control their condition more effectively, from being open with family and friends about what it feels like to live with lupus and how they can help, to learning more about the condition to take a more active role in its management.

  • + Making positive lifestyle changes
    • Many of the problems caused by lupus can be made worse by smoking, so giving up smoking is recommended for anyone living with or at high risk of the condition.
    • A healthy, well-balanced diet can benefit most people, including those with lupus.
    • Finding the right balance of exercise for an individual is important to help improve fatigue and overall health, without causing exertion. Walking and swimming are typically recommended as exercises for people with lupus because they can improve fatigue, fitness and stamina without putting too much strain on the joints.
  • + Managing pain and fatigue

    Pain and fatigue can be two of the most difficult symptoms of lupus to manage day-to-day and are ‘invisible’, so it’s important to let people around you know how you’re feeling and if they can help in any way.

    In addition to pain medication, it can be helpful to:

    • Avoid certain strenuous activities and plan time to rest before and after more demanding tasks.
    • Take regular hot showers or baths to ease joint or muscle pain.
    • Increase your intake of water or other liquids.
  • + Managing photosensitivity
    • Sensitivity to light – or photosensitivity as it is medically known – is a common symptom of lupus and can cause the hallmark rashes or even flare-ups.
    • When outside, people with lupus should wear high-factor sunscreen (factor 50+) to block out damaging ultraviolet (UV) rays. In many countries, sunscreen is available on prescription for people with lupus.
    • It is advisable to keep out of the sun when it is most intense, wear a hat, and cover up as much as is comfortable to protect the skin.
    • Indoor lighting and appliances can also emit harmful UV rays, which can cause cumulative skin damage in people with lupus. Choosing bulbs and appliances with the lowest irradiance can be helpful to reduce the risk.
  • + Avoiding infection
    • If someone with lupus is being treated by medications that dampen their body’s immune response, it may make them more susceptible to infection.
    • Washing hands often with warm soapy water, carrying and using antibacterial gel, and avoiding individuals who have any contagious conditions are all simple ways of reducing the risk of infection in day-to-day interactions.

Joining a patient association

“It would be a very positive step if, every time a lupus diagnosis is made, physicians tell the patient that there is a group of other patients that they can communicate with to help them to understand and cope with their disease.”

- Patient

There are many patient associations that are dedicated to helping patients and their families to live well with lupus, through providing detailed information, practical advice, and valuable support.

A list of organizations around the world can be found on the World Lupus Federation website at worldlupusfederation.org/lupus-groups-around-the-world.