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Scott Webb: Lupus is challenging to explain and diagnose, but thankfully we have experts like my guest today, Dr. Heena Jain. She's here to explain lupus and how it presents and how it's diagnosed and treated. This is Expert Insights with the Carle Foundation Hospital. I'm Scott Webb. Dr. Jain, it's so great to have your time. Welcome to the show.

Dr. Heena Birbal Jain: Thank you. Thank you very much.

Scott Webb: Yeah. And today, we're going to talk about lupus and diagnosis and treatment and so on. But just as a little bit of a baseline, even though this is for other providers, how would you define lupus? What is lupus?

Dr. Heena Birbal Jain: So lupus, we call it systemic lupus erythematosus, which indicates that it's a systemic disease. It's a chronic autoimmune disease. And the cause of which is unknown, which can literally affect any organ of the body. There is a term called cutaneous lupus erythematosus, and that particular type of lupus is limited to just the skin involvement. But when we say systemic lupus erythematosus, it is basically a systemic chronic autoimmune disease.

Scott Webb: All right. So then, let's talk about some of the common symptoms that lead to diagnosis of lupus. You know, as you say, the systemic could affect just about anything in a variety of different ways. So, take us through this. What are some of the common symptoms?

Dr. Heena Birbal Jain: Yeah. So, this is a very loaded question.

Scott Webb: Yeah.

Dr. Heena Birbal Jain: So, lupus, is one of the unique disease which is very, very heterogeneous in the way it presents. It can cause somebody very mild joint pain and very mild skin involvement. And on the other hand, it could cause life-threatening kidney involvement, central nervous system involvement or blood abnormalities, hematological complications. So, it is always a combination of clinical presentations and features that raises suspicion for this disease that would lead us to do workup to see if this is indeed was going on.

But to simplify things, to go through the common symptoms and the presentation, the foremost common complaint is fatigue. Almost a hundred percent of patients will have some sort of fatigue that is disabling. A few of them can have fever and we often call it fever of unknown origin, meaning they would have fever that is not explained by infection and malignancy and has been going on for at least six weeks.

Then, joint pain is a common presentation, but it does not necessarily have to be in the initial presentation. But at least 70-80% of patients will have some sort of joint involvement. It could be synovitis where they have inflammation of the joints, or it could be just plain arthralgia, meaning it is pain without any inflammation seen on exam.

These are the things that are present in most of the patients and there are specific symptoms like skin involvement. There are various kinds of skin rashes seen in lupus, but the two most common ones that everybody knows about are call butterfly rash. The other name for it is malar rash, which you can see on the cheeks. And then, there is discoid lupus rash, which as the name suggests, it's like a coin. It looks like somebody hid a coin under the patient's skin and it leaves marks and hypopigmentation or hyperpigmentation secondary to rash.

All these are the complaints that can be visible. On exam, but then there are symptoms that are related to internal organ involvements. If somebody has a lung involvement, then they may have shortness of breath or they may have pleuritis, which is from irritation of the pleura. If they have cardiac involvement, that can be very varied and it can range from simple pericarditis to a coronary artery disease.

Then, the other thing is kidney involvement. That is a big one, and that is the most life-threatening complication of lupus. And usually, patients would not notice any symptom, and the signs would be elevation in their serum creatinine, urine abnormalities, where they have a lot of protein and blood in the urine. The other is the hematological complications. Lupus can cause leukopenia, thrombocytopenia, anemia, some other atypical manifestations like TTP, aTTP, all these can be manifestations of lupus.

Scott Webb: I see what you mean. Definitely a loaded question. So, it naturally leads to how do you diagnose. I'm sure it's patient history and physical exam and maybe there's some tests involved, but how do you sort of sort through all of this in these, perhaps, you know, a variety of different symptoms affecting people? How do you diagnose lupus?

Dr. Heena Birbal Jain: Yeah. So, diagnosis is a challenge just because, as you heard, the presentation can be very varied, and it all depends from patient to patient. And even during the disease course, the presentation changes quite often. But initial diagnosis is made when a patient has a combination of symptoms and there is no other alternative diagnosis to explain their symptoms.

When somebody presents with a combination of few things that cannot be explained by other things, then we do the blood work that would raise further suspicion for SLE. The reason why we do not like to do the blood work if there is an alternate diagnosis is because the labs are not specific for SLE. That means these labs could be present in other conditions or could be present in a patient with no significant diagnosis.

But when the clinical suspicion is high enough, then we do multiple labs. We usually start with ANA, it's called anti-nuclear antibody, blood counts, kidney function, and urine studies. Once we have seen that patient has a positive anti-nuclear antibody, then we go on with specific tests for lupus. And those are specific antibodies like double-stranded DNA, antibody to Smith antigen, RNP antibodies that are little more specific for SLE.

Scott Webb: Yeah. Well, thankfully, we have experts like yourself because there's a lot of possible symptoms, things that could be one thing, could be lupus. And thankfully, we have your expertise and other doctors who do what you do. And I think as we wrap up here, doctor, today, let's talk about the different treatment options that you can offer patients, discuss with patients, and so on.

Dr. Heena Birbal Jain: So, the treatment options, there are varied treatment options and they all depend again on the presentation. If it is a mild cutaneous lupus, meaning there is a mild cutaneous rash related to lupus that can be treated with as simple things as topical steroids. And we can also use some other topicals like calcineurin inhibitors. But most of the patients will require some sort of systemic treatment to control lupus. So, the treatment is immunomodulator that modulate somebody's immune system or immunosuppressants that totally suppress the immune system. And that depends on how severe the presentation is. For somebody who has a mild rash, and let's say they have joint pain and some pleuritis maybe, then the treatment options would include hydroxychloroquine, methotrexate or azathioprine.

Now for the serious manifestations like kidney involvement, the treatment options include medications like mycophenolate, cyclophosphamide and rituximab. But most of these patients will also require some sort of steroids in their disease course because most of the immunomodulators and immunosuppressants, they can take few months to start working for the patient. And the dose of steroids vary depending on how severe the presentation is.

Scott Webb: Yeah, I see what you mean. Well, it's been great to have your expertise today, doctor, and learn more about lupus and diagnosis and treatment. Thanks so much. You stay well.

Dr. Heena Birbal Jain: Yeah. Thank you for having me. Thank you.

Scott Webb: For more information and to get connected with one of our providers, please visit carle.org. And that wraps up this episode of Expert Insights with the Carle Foundation Hospital. I'm Scott Webb. Stay well.