There are more than 80 autoimmune diseases known to the medical community today, including conditions such as lupus, rheumatoid arthritis, type 1 diabetes and multiple sclerosis. Yet by and large, their precise cause remains unknown.
Best estimates suggest the 19 most common autoimmune diseases affect an astounding 10% of the global population –13% of women and 7% of men. Typically, they onset between the ages of 15 and 45, and are estimated to cost healthcare systems hundreds of billions of dollars annually.
Despite such a prevalence, sufferers often face a long road to treatment because symptoms can manifest in such a wide variety of ways, causing delays or even missteps in diagnosis.
Dr Alejandro de Molnár d'Árkos Millorete, Senior Medical Advisor at Cigna Healthcare, says clinical course, severity, and prognosis vary significantly from one autoimmune disease to another.
“Severity varies from mild to disabling. Some are rapidly evolving, but majority have a longer time of evolution. Manifestations can be permanent or episodic, with disease-free periods of time between symptoms. But all of them require treatment, and prognosis can be severe if left untreated.”
Diagnosis often requires extensive medical testing, he adds.
“Tests consist of blood examination, including auto-antibodies determination, diagnostic imaging, and other tests, depending on the diagnosis suspected,” he says.
“It is important to note that presence of antibodies itself does not grant diagnosis. A combination of certain clinical features and blood test results would help to diagnose an autoimmune disease.”
“Sometimes it takes few years until we can detect presence of antibodies, although the clinical picture may be flourished from the beginning, and vice versa.”
Autoimmune disease symptoms
Autoimmune conditions arise when the body’s natural defence systems attack normal healthy cells, causing symptoms such as inflammation, fatigue and joint pain, ulcers, skin and hair problems, swollen glands and digestive issues.
Lupus is often called “the great imitator” because of its broad range of symptoms and complications. Symptoms mimic other serious conditions including fibromyalgia, diabetes, and Lyme disease, making it difficult to explain to doctors and access the right care.
Like all autoimmune conditions, lupus is not contagious, and most commonly affects women. An estimated 5 million people worldwide have a form of lupus. While men, children and newborn babies can also develop it, nine women are diagnosed to every man, according to Lupus UK.
Living with Lupus
Jo Green has lived with lupus for decades and believes her battle with the autoimmune disease began at school.
“I caught a virus aged 15, which affected my ability to walk,” she says. “I then had extreme fatigue, excruciating headaches, and problems retaining and recalling information. I was usually top of the class in most of my subjects at school, but when I sat my GCSE exams, I only got grade Cs which was a huge disappointment. I also failed my maths, which was one of my strongest subjects.”
Years of confusion followed. Lupus can cause various health problems, from musculoskeletal pain and breathing difficulties to extreme fatigue, migraines, inflammation and hair loss, and Jo began to experience more of these symptoms in her twenties, affecting her confidence and mental health.
“During my late teens and early twenties, my hair started to come out in golf ball-sized patches,” Jo says. “Alopecia was really distressing; I became self-conscious about my image as I worked in the cosmetics industry at the time.”
After being diagnosed with the autoimmune condition pernicious anaemia in her early twenties, Jo’s health worsened over the years. Giving birth to twins aged 37 sent her body “completely haywire”, she says, sparking a further search for answers about her health condition.
“I started to experience hip pain and I could barely walk. At the time, my concerns were dismissed. It was blamed on me being five foot and carrying such a heavy weight in pregnancy.”
Early onset perimenopause and menopause followed the birth of her twins, compounding the health problems. Eventually, Jo needed a walking stick to aid her movement, and could no longer work.
“I could barely walk 100 yards without support from my husband. My body was sending me signals, saying, ‘You can’t do this anymore’, and the list of symptoms was getting long.”
Diagnosis difficulties
Jo was misdiagnosed several times and passed between medical specialists before her eventual lupus diagnosis. Autoimmune disease sufferers often face hurdles and years of diagnostic tests, delays and missteps as they bounce between medical specialists.
Jo encountered problems navigating a healthcare system not designed for the coordinated care and treatment of autoimmune diseases.
“I was like a jigsaw. People were trying to put the pieces back together, but they didn’t have the answer,” Jo adds. “At first, I was referred to rheumatology, they wanted to eliminate rheumatoid arthritis. Then I had to see a musculoskeletal specialist to check my spine, resulting in a referral back to rheumatology. I also had an appointment with a neurologist because they suspected MS. And once again, I was referred back to rheumatology.”
After two years of diagnostic tests, Jo was diagnosed with Systemic Lupus Erythematosus (SLE) following a positive antinuclear antibody test and looking deeper into her family history of autoimmune diseases. SLE can affect the joints, skin, and organs including the kidneys, brain, heart and lungs.
Autoimmune disease treatment
While there is currently no cure for lupus, medical treatment aims to control symptoms and limit flare-ups. Having received her diagnosis, Jo has developed a better understanding of the disease and has taken steps to sustain and improve her quality of life.
“It took a few months for the medication to start making a difference, which felt as if I was starting to get my life back,” she says. “Some of the medication has been an absolute godsend, but others have been the worst experience ever.”
Jo’s search for a treatment that best suits her body and her condition is commonplace among lupus sufferers. Due to the nature of the disease, long-term medication use can have especially severe side effects.
Six in ten people diagnosed with lupus, using steroids as their primary form of treatment, experience at least one major side effect, such as diabetes, heart disease, organ failure, osteoporosis, or vision impairment.
Learning more about the condition and how to communicate effectively with medical professionals has helped, she says. Jo often helps other people with lupus deal with the stress of managing the condition and accessing the proper care.
“I will always try to help to make that journey to diagnosis a little less stressful,” she says. “The best advice I got from my favourite GP was to not be afraid to talk to consultants and tell them how you’re really feeling. Because if you don’t, it’s more likely you’ll be overlooked.”
“Autoimmune diseases are like an umbrella of symptoms, and it can be hard for specialists to connect the dots,” Jo adds. “My advice is to do your research before you see a GP, write everything down about your symptoms, and try and connect them to autoimmune diseases such as lupus.”
As medical science attempts to unravel the mysteries behind autoimmune diseases, Dr de Molnár d'Árkos Millorete is hopeful that advances in treatment will be made through the adoption of new treatments.
“We have seen optimistic articles published this year concerning advancements made on certain autoimmune diseases and therapies,” he adds. “As we progress to better understand the mechanisms causing them, and we develop new targeted therapies to treat the molecular and genetic mechanisms behind, we are getting closer, step by step, to achieving the long-time dream of modulating the immune system in the future.”
