For many diseases, the diagnosis is pretty straight forward. An x-ray spots that broken bone. A cardiac catheterization finds the obstruction that portends a heart attack.
Not so with systemic lupus erythematosus, commonly referred to as lupus. The disease has a wide variety of symptoms that can be signs of other medical conditions as well. That’s why it’s called the great imitator. Because of this, many cases go undetected or misdiagnosed, according to the Lupus Foundation of America. It can take up to seven years to correctly identify the disease.
The cause
The confusion is understandable. Lupus is an autoimmune disease. The immune system is designed to protect us. It ferrets out intruders, such as viruses and bacteria and marks them for destruction. In an autoimmune disease, however, the system actually turns on itself and mistakenly attacks normal cells. It can’t differentiate between you and that virus.
Dr. Karen Costenbader, the director of the Lupus Program at Brigham and Women’s Hospital. PHOTO: Emily Oakes and Jack Ellrodt
The problem is that the immune system covers a wide territory. Any part of the body is a potential target. Such is the case with lupus. It may attack the skin, joints, kidney, heart and lungs. It causes fatigue, chest and joint pain, shortness of breath and even brain fog, to name a few.
“There’s not one particular symptom that stands out when determining a diagnosis,” explained Dr. Karen Costenbader, the director of the Lupus Program at Brigham and Women’s Hospital in Boston. “Involvement of multiple systems can be suggestive of lupus.”
Even more troubling is that the cause of lupus is unknown. Genetics, hormones and environment play a role, but in most cases, the exact cause remains a mystery.
Types of lupus
Systemic lupus erythematosus: the most common
Cutaneous lupus erythematosus: affects only the skin
Drug-induced lupus: caused by certain medications and typically goes away once the medication is stopped
Neonatal lupus: a rare type of lupus found in infants at birth. Symptoms generally disappear but some can have a rare but serious heart defect
Disparity
There are 1.5 million people with lupus in this country and 90% of them are women. The disease typically strikes between the ages of 15 and 44, the childbearing years. Race is a factor. Lupus is two to three times more prevalent among women of color than among white women. African Americans are hit particularly hard. According to a study published in Arthritis and Rheumatology, lupus affects one in 537 African American women.
Even more disturbing is that Black women are more likely to develop lupus nephritis, an adverse complication of the disease that targets the kidneys. In addition, death rates are higher in women of color.
Although lupus is more common in women, men, teens and children can also develop the disease.
Flares
Flares occur when symptoms get worse, making people feel sick. They may come and go and differ by the individual. Sometimes flares occur without clear symptoms and are found only with laboratory tests. Others, however, have distinct signs such as pain, fever, rash and fatigue.
It’s important to learn your triggers. Overwork, infection and even exposure to the sun can start a flare. It’s recommended to contact your doctor to see if an adjustment in the treatment plan may be necessary.
Signs and symptoms:
The signs and symptoms of lupus vary and depend on the body systems affected. That’s why no two cases are alike. The most common signs and symptoms include:
• Fatigue
• Fever
• Muscle and joint pain, stiffness and swelling
• Rashes, particularly butterfly- shaped rash on the face
• Sensitivity to sunlight
• Fingers and toes that turn white or blue when exposed to cold or during stressful periods
• Shortness of breath
• Chest pain when breathing deeply
• Dry eyes or eye inflammation
• Headaches, confusion and memory loss
• Hair loss
• Kidney problems
• Anemia
• Mouth sores
Risk factors:
• Gender: more common in women
• Age: more frequently diagnosed between the ages of 15 and 45
• Race: more common in African Americans, Hispanics and Asians
Testing
No two cases of lupus are alike, adding to the difficulty in correct diagnosis. In addition, it is somewhat a moving target. Symptoms come and go. Sometimes they are mild; other times they are severe. Some symptoms in an individual disappear altogether only to be replaced by different ones.
In addition to evaluation of symptoms, the doctor conducts blood and urine tests. For instance, protein in the urine may indicate lupus nephritis, which can result in kidney failure if not properly treated. In some cases, imaging tests or a biopsy help confirm the diagnosis.
There is no one test to accurately diagnose lupus. However, a key test is called an ANA (antinuclear antibody) test. Interpretation is a bit tricky. A positive result may indicate a stimulated immune system, the characteristic of lupus. Most people with lupus have a positive ANA test; yet most people with a positive ANA do not have lupus, according to Costenbader. If your ANA is positive, your doctor may advise more specific antibody testing.
“Work is being done on better tests,” Costenbader explained. Biomarkers are in development that are designed to result in earlier diagnoses.
PHOTO: ADOBE STOCK
Treatment
Medications are chosen based on one’s particular symptoms and severity of disease. NSAIDs, such as over-the-counter ibuprofen, help quell joint and muscle pain. But the backbone of medications are steroids and antimalarials. Steroids may help reduce swelling and pain but are designated for short term use. Antimalarial drugs, on the other hand, are prescribed to treat joint pain, skin rashes and even lung inflammation.
In 2011, the Food and Drug Administration approved belimumab (Benlysta), the first drug that was specifically developed for lupus. In July 2021, the FDA approved anifrolumab (Saphnelo), the second targeted therapy to treat adults with lupus.
Prognosis
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There is no cure for lupus. However, according to the Lupus Foundation of America, with effective treatment, about 90% of people afflicted have a normal life expectancy.
“If you don’t take your meds, however, your condition can get out of control,” Costenbader warned. Unfortunately, adherence to medications is lacking in some people. A recent study published in The Rheumatologist found that in a group of adult patients in a California clinic, only 58% of those studied adhered to their medication at least 80% of the time. Older age, white race and three or more visits to the rheumatologist were associated with better adherence. Costenbader has found similar nonadherence in younger people.
The next step: Awareness
Although lupus is a significant disease with wide-ranging complications, it flies below the radar. Awareness is low. According to the Lupus Foundation of America, 63% of Americans surveyed have never heard of lupus or know little or nothing about the disease.
Even affliction of celebrities has not had a significant awakening. Selena Gomez had a kidney transplant due to lupus. Nick Cannon, the rapper and actor, suffered kidney failure and blood clots in his lung. People attributed the scars on Seal’s face to tribal configurations, but the scars as well as the bald head are the consequences of the disease.
A study to assess the awareness and understanding of lupus was conducted jointly by Brigham and Women’s Hospital, Northeastern University, and other organizations in Boston and Chicago. The researchers designed a program called “Lupus Conversations” to disseminate culturally appropriate education about lupus. They found among other things that there were significant gaps in knowledge about the signs, symptoms and psychosocial effects of lupus in the African American communities. Similar lack of awareness was evident among some health professionals as well.
The researchers highlighted the importance of the community voice and social networks to disseminate information.
Inclusion
Costenbader emphasized the need for greater participation of minorities in clinical studies and clinical trials as well. That’s particularly true when it comes to medications. “Drugs may not work as well in Blacks if they are not included in the trials that test them,” she explained. “There’s an unmet need.”
