Lupus: The Disease of a Thousand Faces and the Science Behind It

The Hidden Battle of Autoimmune Diseases

For six years, Ruth Wilson endured a series of misdiagnoses and dismissive attitudes from doctors who failed to recognize the severity of her symptoms. Her rashes, swelling, fevers, and severe pain were often brushed aside until she finally insisted on one more test in an emergency room. That test revealed that her kidneys were failing, and the cause was something far more insidious — her own immune system had been attacking her body for years without anyone realizing it.

Wilson’s story is not unique. She has lupus, a condition known as the “disease of 1,000 faces” due to its wide range of symptoms. Her journey highlights the challenges faced by millions of people suffering from autoimmune diseases, which affect up to 50 million Americans and countless others worldwide.

Autoimmune diseases occur when the immune system mistakenly attacks the body’s own cells, leading to a variety of conditions such as multiple sclerosis, rheumatoid arthritis, Sjögren’s disease, Type 1 diabetes, and myositis. These diseases are difficult to treat, on the rise, and remain one of medicine’s greatest mysteries.

A New Era of Research

Recent advancements in cancer research and insights gained during the COVID-19 pandemic have provided scientists with new tools to understand autoimmune diseases. Researchers are now uncovering the biological pathways that lead to these conditions and identifying connections between seemingly unrelated diseases. The goal is to develop treatments that target the root causes rather than just managing symptoms.

One promising approach is CAR-T therapy, which involves reprogramming a patient’s own immune cells to attack the rogue cells causing the disease. Early results have been encouraging, with one lupus patient in Germany remaining in remission after treatment. Another drug, teplizumab, has shown potential in delaying the onset of Type 1 diabetes symptoms, offering hope for early intervention in other autoimmune conditions.

Dr. Amit Saxena, a rheumatologist at NYU Langone Health, believes this is one of the most exciting times in the field of autoimmunity.

Understanding the Immune System

The immune system is designed to detect and fight foreign invaders like bacteria and viruses. It includes T cells and B cells, which learn to distinguish between what is foreign and what belongs to the body. However, sometimes the immune system becomes imbalanced, leading to autoimmune diseases.

Genetic factors play a role, as certain genes can increase susceptibility to these conditions. But non-genetic factors such as infections, medications, smoking, and environmental pollutants also contribute. In lupus, even a severe sunburn can trigger a flare-up.

Women are disproportionately affected by autoimmune diseases, possibly due to hormonal factors or the presence of an extra X chromosome. For example, 90% of lupus cases occur in women, often young ones like Wilson.

Living with Lupus

Wilson’s daily life is marked by chronic pain, fatigue, and brain fog. Despite this, she has found ways to manage her condition through medication and lifestyle changes. She receives monthly IV treatments and takes multiple daily medications to control her symptoms. Flares, which can last days or even weeks, significantly impact her work and family life.

Kaplan, a researcher at the NIH, explains that the same inflammatory proteins that cause fatigue during a cold or flu are constantly present in the bodies of people with systemic autoimmune diseases.

Hunting for Root Causes

Scientists are now focusing on understanding the underlying mechanisms of autoimmune diseases. Dr. Justin Kwong, a research fellow at the NIH, is studying neutrophils, the most common type of white blood cell. He is investigating how these cells may be involved in triggering autoimmune responses.

Neutrophil extracellular traps (NETs), which are sticky structures formed by neutrophils to trap pathogens, may be linked to heart attacks and strokes in patients with autoimmune diseases. Researchers are exploring how these structures could damage blood vessels and contribute to early-onset cardiovascular issues.

Personalizing Treatment

Lupus and other autoimmune diseases vary widely in their symptoms and responses to treatment. This suggests that they may not be single diseases but rather a collection of related conditions. Scientists are working to identify subtypes of these diseases to develop more targeted therapies.

In one study, researchers analyzed joint tissue samples from patients with rheumatoid arthritis and identified six inflammatory subtypes based on cellular patterns. This breakthrough has changed the way scientists think about the disease and is helping guide treatment choices.

Advocacy and Awareness

Wilson has become an advocate for lupus awareness, sharing her experiences to educate both the public and medical professionals. She emphasizes the importance of listening to patient reports of changes in their daily lives, such as improvements in cognitive function or quality of life.

Her participation in the Lupus Landmark Study, which tracks biological samples from 3,500 patients, underscores her commitment to advancing research and improving care for others.