It’s a bone-a-fide mystery.
Joint pain, hair loss and fatigue are clues that can point to various conditions. One in particular has been throwing people for a loop even as 16,000 new US cases are reported annually.
Lupus is sometimes called a cruel mystery since it can take many years for patients to be accurately diagnosed.
The chronic autoimmune disease is unpredictable and often has subtle symptoms that are easily missed or attributed to other ailments. In the meantime, unchecked inflammation can cause permanent damage.
Here are the symptoms that go unnoticed and potential treatments in the works.
How does lupus happen?
Our immune system defends our body against infections and diseases by identifying and destroying harmful substances. But sometimes our immune system gets confused and accidentally attacks our own body. We call that autoimmunity — it can lead to inflammation.
The location of the autoimmune attack largely determines the type of autoimmune disease.
With lupus, you can have inflammation in the joints, under the skin and even in your organs, spurring a wide range of symptoms.
What causes lupus?
We don’t know the exact cause of lupus, but several factors can play a role.
We know there is a genetic predisposition to the disease and that autoimmune diseases can cluster in families but manifest in different ways. Someone in the family might have psoriasis while another person has thyroid disease and a third has lupus.
Family history is what we call the “first hit.” There’s often a second hit that actually turns on the disease and makes it occur in some people. For example, only about 40% of identical twins both have lupus.
It might be something environmental, like exposure to a virus. Sometimes it’s exposure to sun and UV rays that activate the immune system and turn on this autoimmune process. We’re still trying to unravel that mystery.
About 90% of lupus patients are women, but we’re not sure why. There’s probably some hormonal aspect. We do know that patients tend to flare around their period or after pregnancy, when hormones shift.
How is lupus diagnosed?
There isn’t a single test that proves somebody has lupus.
We often start with an antinuclear antibody (ANA) blood test that screens for autoimmune diseases.
Pretty much anyone with lupus is going to have a positive result, but a positive result doesn’t confirm a lupus diagnosis.
Rheumatologists also look for protein or blood in the urine — which can indicate kidney problems, a common lupus complication — and evaluate symptoms.
What are lupus symptoms?
Patients might have some symptoms of lupus but not meet the full criteria for diagnosis.
The most common one is pain from red, hot, swollen joints. There are also some typical lupus rashes.
The butterfly rash goes across the cheeks and the nose, while the discord rash is dark, circular and scaly. It can happen almost anywhere on the body.
The problem is that joint aches and pains can be chalked up to overuse or musculoskeletal injuries, and the butterfly rash can look very similar to rosacea, which causes flushing and redness in the face.
A lot of the symptoms are vaguer and may not even be part of the classification criteria for lupus, like fatigue, hair loss and Raynaud’s syndrome, when fingers or toes change color in the cold. These symptoms can occur in patients who don’t have lupus.
Having lupus shouldn’t significantly lower life expectancy. But as patients live longer, we’re becoming more aware that we need to pay attention to secondary issues like heart disease, which can be more common in lupus patients.
How is lupus treated?
There isn’t a cure for lupus, but it has become an eminently treatable disease by managing the overactive immune system and reducing inflammation.
One medication used by nearly all our patients is hydroxychloroquine. It’s relatively mild and without many side effects, though we watch for issues like long-term eye toxicity.
For many patients, hydroxychloroquine is not enough. We have to go stronger with immunosuppressive medications even as side effects include an increased risk for infections.
We are working on some really promising new therapies. Our research is exploring medications that target the abnormal parts of the immune system in lupus patients instead of blanket immunosuppressants that disable the entire immune system. Targeted therapies mean fewer side effects.
A couple of these medications have already been approved, and many more are in the pipeline.
Some small studies suggest that certain lupus patients can achieve remission and come off medications without experiencing clinical activity. This research is in its infancy but gives us hope that someday we can finally say we’ve been able to cure this disease.
How can flare-ups be prevented?
Lupus affects the daily life of almost every patient. They can be having a normal day without any symptoms — and things can change on a dime. The risk of flare-ups can be reduced by:
- Steering clear of sunlight or applying broad-spectrum protection with an SPF over 50 because UV rays can activate the disease.
- Staying up to date with vaccinations to lower the likelihood of infections. Anything that turns on the immune system can also turn on the autoimmune process.
- Eating an anti-inflammatory diet. We are learning a lot more about the way that our GI tract interacts with our immune system, but it’s too early to say which foods to eschew.
- Avoiding emotional and physical stressors.
Recurrent flares in lupus can lead to permanent organ damage and potentially kidney disease.
The good news is that a joint effort by patients, doctors and family members can help keep symptoms at bay and hopefully put the disease into remission so patients can live a full and long life.
Dr. Amit Saxena is an associate professor in NYU Langone Health’s Division of Rheumatology. He is also the director of the Rheumatology Clinical Research Program.
