What is Lupus?
Lupus is a long-term auto immune disease, where the body’s immune system is unable to tell the difference between healthy and non-healthy cells. Thus, the body’s immune system becomes hyperactive and attacks healthy tissues. Due to the complex nature of lupus, it is often known as a illness with many different faces.
Symptoms and effects of the body
There are thousands of people living with Lupus. Unfortunately, it is hard to diagnose and can often be confused with other autoimmune conditions, as they have similar characteristics. The most common form of Lupus is SLE which stands for Systematic Lupus Erythematosus. What does this mean for someone that suffers with it? Well it can affect multiple organs and systems within the body and symptoms can often range from mild to severe. They can also range in extremity depending on weather, stress and other factors.
SLE can affect your skin (giving you rashes), Joints (painful and sore), your lungs, your kidneys, blood and heart. It can also have a negative effect on your mental health.
The condition itself can go through periods of flares that vary in intensity and periods of remission where a person feels like they are nearly back to normal and are able to continue with their everyday life.
So, what goes wrong?
The exact cause of Lupus has yet to be found. What is known is that the immune system is made up of various tissues, organs and cells. Its job is to protect the body by fighting off any foreign bodies that may try to attack the body such as viruses, flus, bacteria etc. The immune system does this by creating Y shaped proteins known as antibodies. The antibodies send signs to fight or protect. We all have white blood cells called B lymphocytes which produce these antibodies.
Unfortunately, people with Lupus will have a low count of white blood cells. The immune system cannot tell the difference between unwanted foreign attacks and healthy tissues that are protecting the body, therefore it starts to attack the healthy as well as the foreign unwanted substances. This then causes pain and swelling amongst other problems.
People with Lupus are often tested for Antinuclear antibodies (ANAs) – these work by targeting the nucleus of the body’s own cells – so basically the antibodies cause the immune system to attack the processing centres of the body’s own cells and tissues.
Genes can play a factor in who inherits the disease. Although there have been cases where family members have not had it previously. Generally, there is a higher chance of a person getting the disease if a family member has it.
The disease also tends to hit Asians, Native Americans, Africans, Hispanics more. It is also disease that is found in women more than men.
- The main symptoms of Lupus include:
- Muscle and joint pain
- Chest pain when breathing deeply
- Sensitivity to light
- Mouth ulcers
- Memory problems
- Malar rash – butterfly type of rash across the cheeks and nose
- Hair loss
- Pale or purple toes from cold or stress known as Raynaud’s Syndrome
How can doctors know you have the disease?
Various blood tests and other markers can help to diagnose the disease. It can be a hit and miss. Various tests are done to see if the markers are present for example:
- Anti-nuclear antibody – 95% people with lupus will have a positive result in their ANA – however this does not always mean that the person has lupus other tests are also needed
- APLs are another type of antibody – about 50% of people with lupus can have it. Once again it can be present in people without lupus
- Anti-DNA anti-body test – around 30% of lupus patients have it and is usually only prominent around a time that a patient is flaring up
Like this, there are many other tests that can also be done to build a overall picture to determine whether someone has lupus or not.
There is no cure for lupus at the moment although there has been positive scientific advancement towards some sort of cure which will be discussed below. Currently the main treatment is to help reduce inflammation in the body. The other aim is to protect organs from damage and help prevent flareups. Everyone is different but the following medications along with pain control such as Ibroprofen and co-codamol is used.
- Hydroxychloroquine – this antimalarial drug treats rashes and arthritis symptoms
- Cortisteroids and immune suppressants such as prednisolone and methotrexate help to supress the immune system – these usually target a specific part of the immune system and help control inflammation
- Belimumab – a biological agent for treating SLE
- Rituximab (Rituxan) – originally approved to treat lymphoma (blood cancer) it is now being used to treat arthritis. Researchers have been trying to see if it can help patients with lupus, there has not been too much success, but it may still work for more severe forms of lupus. However, some patients have said that treatment has worked for them.
- Obinutuzumab (Gazyva) also destroys B cells. It has already been used in treatments for blood cancer like chronic lymphocytic leukaemia – it is being looked at researchers as a potential way to treat lupus and results have been promising.
Current research and progression
Researchers believe they have found a single point mutation in an infection sensing gene that causes this autoimmune condition. The gene is called the TLR7 Gene which was found in a Spanish girl who developed Lupus at the tender age of 5.
It was with her genome that the single point mutation was found – to test whether this mutation was the cause of lupus the researchers used the same mutation in mice. The mice got Lupus. The mutation increased the immune systems sensitivity, switching on the internal infection sensor even though there was no virus present. Confused by what to target, the misdirected cells then began to attack the healthy tissues in the body.
If this research is correct then it solves another problem. Why women get it more than men. The TLR7 sits on the X chromosome, so mutation is twice as likely.
Researchers are very hopeful that the discovery will lead to better diagnostic tools and therapies not only for Lupus but also for other auto immune conditions.
CAR T-cell treatment
In their latest work and research doctors have taken T-cells from lupus patients and modified them so that when they have re-infused them, they attacked the patients B-cells.
In lupus B cells tend to churn out autoantibodies, which instead of defending the body again invading infections etc instead start to attack healthy tissues.
The study by Nature Medicine said that the therapy had wiped out the patients abnormal B cells and improved the condition of the patient dramatically. 5 patients were tested, the disease had affected multiple organs in all five patients. After therapy, the severest of symptoms including arthritis, fatigue, fibrosis of the heart values and lung inflammation had all cleared up.
What was more interesting was that, 4 months after treatment, blood tests on the patients showed that their B cells had recovered, BUT they were no longer producing the abnormal antibodies and that the patients remained disease free.
Professor Georg Schett, a rheumatologist leading the work in Friedrich-Alexander University in Erlangen-Nuremberg said “we are very excited about these results…several other autoimmune diseases which are dependent on B cells and show autoantibodies may respond to this treatment. These include rheumatoid arthritis, myositis and systemic sclerosis. But also, diseases like multiple sclerosis may be very responsible to CAR T cell-treatment.”