March 14, 2020
Drew Hays @drew_hays/Unsplash.com
Lupus patients can go months or even years before getting the right diagnosis, delaying treatment and relief from symptoms.
When you are not feeling well, all you want to do is pinpoint why and get proper treatment. For patients with lupus, however, the journey to a correct diagnosis can be especially frustrating.
An estimated 1.5 million people in the U.S. are living with lupus, an autoimmune disease that causes inflammation and tissue damage in the joints, skin, brain, lungs, kidneys and blood vessels.
Dr. Roberto Caricchio, director of the Temple Lupus Program at Temple University Hospital, told PhillyVoice that the biggest challenge in diagnosing lupus is connecting the patient with someone who understands the different ways lupus can affect the body.
So how does it affect the body? He explained, "We have a wonderful immune system able to distinguish ourselves from bacteria, viruses, etc. With an autoimmune disease like lupus, however, the body is not able to tell the difference and attacks itself.
"It is like having a chronic infection but against yourself. Why is that? We don't know. There is some genetic predisposition. There are about 150 abnormal genes, but not all lupus patients have them. We know that women are more prone – 90% of people with lupus are women – and that the sun can be a trigger, but we only have bits and pieces of the puzzle, not the whole picture," he said.
"We are actually making more progress treating the disease than understanding it."
Women of African American, Hispanic, Asian and Native American descents are at the most risk for lupus. Environmental factors, viruses and infections can also be triggers. Epigenetics, which are changes in chromosomes, is another possible cause.
Lupus is often referred to as the great imitator because its symptoms mimic those of many other illnesses. Lupus symptoms also tend to wax and wane, further complicating the diagnosis process.
According to the Lupus Foundation of America, it takes an average of nearly six years for people with lupus to be diagnosed after they first start to experience symptoms. In a survey of lupus patients, 63% had received incorrect diagnoses at first, and more than half had to see four or more different specialists before the right diagnosis was found.
There are four different types of lupus: systemic lupus erythematosus, cutaneous lupus, neonatal lupus and drug-induced lupus.
"Systemic Lupus Erythematosus can manifest into a diverse range of symptoms and only a lupus expert can recognize the patterns of manifestation," Caricchio said.
Symptoms can include joint pain and swelling, skin rash, fever, fatigue and weight loss. Some of these are constitutional symptoms, meaning that they are not disease specific, complicating the diagnosis process.
Caricchio added that many lupus patients may only have kidney problems or shortness of breath from fluid on their lungs. Others will just have fluid on the heart called pericardial effusion.
One telltale sign of lupus is a facial rash resembling butterfly wings that spread across both cheeks.
Systemic Lupus Erythematosus, or SLE, affects many parts of the body, while cutaneous lupus causes rashes or lesions on the skin, most often after being exposed to sunlight.
Neonatal lupus is a form of lupus that occurs when a mother with SLE passes autoantibodies to her baby, which are mistakenly attacked by the child's immune system. Normally any skin, liver and blood problems resolve within six months. However, if the child develops a congenital heart block, a pacemaker might be needed.
"... (L)upus patients should be vaccinated for protection against infections before they are immunosuppressed." – Dr. Roberto Caricchio
To diagnose lupus, one's doctor will most likely order blood tests for certain auto-antibodies, as well as skin and kidney biopsies, depending on the symptoms.
The tests shouldn't be ordered until the clinical evaluation points to lupus, Caricchio explained, because some people will test positive without actually having the disease.
Treatment of lupus tends to be multidisciplinary because it depends on the parts of the body affected. Since there is currently no cure, the goal is to prevent or treat flare up of symptoms, prevent or reduce damage to affected joints or organs, reduce swelling and pain and suppress an overactive immune system.
Common medications prescribed to treat lupus include corticosteroids, antimalarials, biologics, immunosuppressive drugs like cyclophosphamide and non-steroidal, anti-inflammatory drugs – or NSAIDS.
Most lupus patients should take the malaria medication hydroxychloroquine, Caricchio said, because it can ease joint pain and swelling and skin rash.
"Level of treatment changes depending on spectrum of severity," he said. "We are very aggressive when needed, and when a flare stops, then we taper off the medicine."
Asked if eating a special diet can help ease symptom, he said, "There is no lupus diet. There is only a healthy and a not healthy diet."
Living with lupus means a person also needs to be aware of the increased risks for other health problems, like cardiovascular disease, kidney disease and stroke.
Lupus can accelerate the process of atherosclerosis, the build up of plaque along the lining of arterial walls. Some people with lupus experience inflammation in the heart (myocarditis and endocarditis) or the surrounding membranes.
Having lupus can also increase your risk of infection, cancer, pregnancy complications and bone tissue death called avascular necrosis
"I can't emphasize enough that lupus patients should be vaccinated for protection against infections before they are immunosuppressed," Caricchio said, adding that vaccines should not be given during a flare and that recombinant vaccines are the safest for them.
There are also consequences of treatment because of increased risk of side effects like diabetes and osteoporosis – mostly from the prednisone, a corticosteroid. Caricchio said lupus patients should be monitored for these side effects and treated immediately to minimize complications.
Research is ongoing not only to identify better treatment options but also understand the disease's progression.
The Lupus Foundation of America recent found that more frequent flares is associated with worse patient hospitalization, and higher medical bills.
Another study points to arthritis, skin lesions and low, white blood cell counts as early signs of lupus. The researchers also found a strong auto-antibody presence in almost 90% of lupus patients.
Stem cell therapy is one of the newest treatments for lupus. Right now though it is still in clinical trials. Caricchio said that there are several new lupus treatments under investigation.
"I have been following lupus since the late 80s, and there has never been a better time for lupus clinical trials," he said. "Within two to three years, I anticipate that we will have more treatments to offer."
He also added, "Over the last 20 years, we have learned to better use what treatments we already have. Better experience with the medicines has helped us achieve many more remissions so patients can live longer, better quality lives."
