A doctor has revealed four symptoms, when combined, could point to a rare autoimmune disease many people don’t realize they have.
A rheumatologist has highlighted four early signs of a rare autoimmune disease that are often overlooked—yet could play a key role in getting a diagnosis sooner.
Scleroderma, a group of chronic autoimmune conditions, occurs when the immune system mistakenly attacks the body’s own tissues, leading to hardening and tightening of the skin and connective tissues. An estimated 300,000 Americans are living with the condition, with about one-third affected by its more serious systemic form, according to the National Scleroderma Foundation.
Dr. Elizabeth Volkmann, an associate professor of medicine in the division of rheumatology at the University of California, Los Angeles, says that recognizing early warning signs can be crucial—even if those symptoms seem mild or unrelated on their own. Volkmann points to four"easy to miss" symptoms that frequently appear early in the disease’s development, but are often misinterpreted or dismissed:This condition affects small blood vessels in the extremities—most commonly the fingers and toes—causing them to overreact to cold temperatures or emotional stress.
The blood vessels spasm, which can lead to color changes, numbness, or discomfort. Persistent tiredness is another common early symptom. Volkmann notes that this fatigue can follow a pattern, often arriving at the same time each day—sometimes in the afternoon—and forcing people to pause their daily activities. Digestive issues such as acid reflux may also emerge early on, even in people who have never experienced them before.
Broader gut-related problems, including bloating or irregular bowel habits, can occur but are frequently mistaken for other conditions. While each of these symptoms can be linked to a wide range of health issues, Volkmann emphasizes that their combination may “Individually, these symptoms can occur in other conditions, but together, they strongly suggest a possibility for scleroderma, particularly in a person who has never had Raynaud phenomenon before,” she said.
One of the challenges in identifying scleroderma is that its early symptoms overlap with more common disorders. Volkmann notes on her Similarly, fatigue is frequently attributed to stress, lifestyle factors, or other chronic conditions, making it easy to overlook as part of a broader pattern. This overlap means that patients may go years without a correct diagnosis, potentially delaying treatment and management strategies that could improve their quality of life.
Although there is currently no cure for scleroderma, treatment options are available to help manage symptoms and slow disease progression.
“Disease modifying therapies are available to treat some of the clinical dimensions of this disease, including skin fibrosis and pulmonary fibrosis,” Volkmann said. However, she noted that addressing the day-to-day impact of the disease requires a more comprehensive approach.
“However, few therapies improve quality of life and symptoms. However, I find that when patients adopt a holistic approach to their health, they can more effectively manage their daily symptoms and improve how they feel,” she said.
“Promising therapies, such as cellular therapies, may lead to sustained remissions of this disease, but more research is needed to uncover curative therapies,” Volkmann said. For now, awareness remains one of the most powerful tools. Recognizing subtle, early symptoms—and understanding how they may be connected—could help patients seek medical advice sooner and begin managing the condition more effectively.
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