A Lupus Diagnosis Is Often a Difficult Journey

You might have heard of lupus—but its symptoms are probably less recognizable.

In fact, they often mimic the symptoms of other diseases, earning lupus nicknames such as “The Great Imitator” and “The Great Masquerader.”

This autoimmune disease can affect any part of the body, from the skin and joints to the brain and kidneys and everything in between. For patients, getting an accurate diagnosis can take many years.

“The symptoms can often evolve over time, which can make diagnosing lupus even more challenging, particularly early in the course of the disease,” says UNC Health rheumatologist Saira Z. Sheikh, MD, director of the UNC Hospitals Rheumatology Lupus Specialty Clinic. “In my opinion, no two lupus patients are truly alike in their disease presentation, which makes this a very unique disease.”

What Is Lupus, and Who Gets It?

Lupus is a chronic autoimmune condition in which the body’s immune system attacks itself. It can affect almost any part of the body and in rare cases can be fatal.

When the immune system starts to attack itself, proteins called autoantibodies target healthy tissues, causing pain, inflammation and damage to tissues and organs.

No one knows exactly what causes lupus, but autoimmune diseases can run in families.

Lupus mostly affects women in their childbearing years—about 90 percent of the 1.5 million Americans with lupus are female. But men and even children and teenagers can develop the disease, Dr. Sheikh says. About 16,000 new cases are reported each year.

The disease is also more prevalent among women from racial and ethnic minorities. It’s more deadly for them, too: from 2000 to 2015, lupus was the fifth-leading cause of death among Black and Hispanic women ages 15 to 24.

Lupus is characterized by flares, when the disease is active, and remission, when the disease is quiet or well-controlled. Flares can be triggered by a variety of causes, including hormones, environmental factors, viral infection, and emotional or physical stress.

“When someone has a lupus flare, they may notice a return of symptoms they have experienced before, or they may develop new symptoms,” Dr. Sheikh says. “It’s especially heartbreaking because lupus doesn’t just impact a patient’s physical health, it can also damage a patient’s sense of self, whether it’s from disfiguring skin disease or from the inability to get out of bed in the morning.”

Here’s the good news: With proper treatment, you can manage lupus successfully.

Symptoms of Lupus

Lupus symptoms vary by person but commonly include muscle and joint pain, particularly in the hands and wrists. Other symptoms are wide-ranging and can include:

  • Rashes, especially on parts of the body that are exposed to sunlight (a common sign of lupus is a red, butterfly-shaped rash across the nose and cheeks)
  • Chest pain, especially when breathing deeply or lying flat
  • Hair loss
  • Sun or light sensitivity
  • Kidney problems or kidney inflammation resulting in pink or frothy urine, weight gain, swollen ankles, high blood pressure and decreased kidney function
  • Mouth sores
  • Prolonged or extreme fatigue
  • Anemia
  • Memory problems or brain fog
  • Blood clotting, often in the legs or lungs, which can lead to stroke, heart attack or recurrent miscarriages
  • Eye disease, including dry eyes, eye inflammation and eyelid rashes

Types of Lupus

There are four main forms of lupus, but about 70 percent of patients have systemic lupus erythematosus. About half these cases affect a major organ or tissue in the body (the heart, lungs, kidneys or brain).

About 10 percent of lupus cases affect only the skin, called cutaneous lupus.

Some medications can cause drug-induced lupus. This is rare and symptoms usually go away when a patient stops taking the medication, but sometimes complications can persist.

Neonatal lupus is a rare condition that affects infants born to mothers with lupus and is caused by the mother’s antibodies. At birth, the baby may have a rash, heart or liver problems, or low blood cell counts. Babies must be monitored closely during pregnancy and after delivery to recognize, prevent and treat complications.

Getting a Lupus Diagnosis

There is no single test to diagnose lupus. An accurate diagnosis can take many years and usually involves careful assessment of clinical symptoms, a thorough physical exam and specialized lab tests. Sometimes a biopsy of the skin or kidneys is needed.

A diagnosis often requires collaboration between a patient’s primary care provider and an experienced specialist such as a rheumatologist, nephrologist or dermatologist who is familiar with the disease.

Unfortunately, lupus is often incorrectly diagnosed: A study of more than 2,500 people with lupus showed that nearly half (47 percent) were originally misdiagnosed.

“The patients in this study had an average delay in diagnosis of over six years, which is striking and concerning,” Dr. Sheikh says. “We also know that, on average, patients have been evaluated by three different healthcare providers before receiving a diagnosis of lupus.”

Treatment for Lupus

Once you’ve been diagnosed, your primary care doctor may refer you to a rheumatologist, who specializes in inflammatory conditions. If you have lupus affecting your skin, you may be referred to a dermatologist.

Treatments vary and depend on your symptoms, the type of lupus you have and the organs it affects. The goal is to prevent flares, treat the symptoms and reduce damage to organs.

“In autoimmune diseases such as lupus, we can think of the immune system as being in a state of chaos, and the goal of treatment is to restore it to a state of calm and harmony,” Dr. Sheikh says.

Treatments typically involve medications that suppress the immune system, which can make patients more vulnerable to developing infections. Finding a balance for each patient is key, Dr. Sheikh says.

Inflammation is often treated with steroids, but these can have side effects, especially when used long term. The goal is to use medications that can keep the disease under control and prevent damage to organs. Examples of such medications include some anti-malarial drugs and biologic therapies that target specific pathways of the immune system.

“Several different therapies are available to treat lupus that have truly been life-altering for patients, allowing them to live healthy lives and manage their symptoms,” Dr. Sheikh says.

Taking Care of Yourself After a Lupus Diagnosis

A healthy lifestyle is just as important as medication, Dr. Sheikh says. That means eating a balanced diet, minimizing stress and maintaining good sleep habits.

Staying active is critical, too. Research shows that people with lupus who don’t engage in physical activity have triple the risk of developing depression.

Dr. Sheikh also recommends being a strong advocate for yourself and actively participating in decisions about your health, treatment plan and choice of medications.

“It’s key to ask questions and have a clear understanding of what to expect both from the disease as well as the medications you are prescribed,” she says. “It’s important to take medications regularly. Listen to your body; if you don’t feel good or think that something isn’t working well for you, communicate with your doctor. This is a partnership and can be most successful when you work closely together with your doctor to achieve your health goals.”

If you have unexplained symptoms, talk to your doctor, or find one near you.