You may have heard of “collagen” in the context of aging. Younger people produce more of this protein than older people, and it helps keep skin firm and elastic.
But that’s not all collagen does—and too much can be a bad thing.
Collagen provides structure and support for not only your skin, but also muscles, bones and other tissues. For people with a condition called scleroderma, the immune system triggers the overproduction of collagen, which can cause thickening or hardening of skin and then affect other organs.
Scleroderma is rare, affecting about 300,000 people in the United States, and it’s unclear what causes it.
“This is an autoimmune disorder that’s thought to have both genetic underpinnings and environmental triggers, but there’s not just one gene that contributes, and there’s not direct evidence of which environmental factors could cause it,” says UNC Health rheumatologist Nicole Orzechowski, DO.
The disorder can be complicated to diagnose and treat because it affects people in different ways. We talked to Dr. Orzechowski about what you need to know.
Symptoms of Scleroderma
Most commonly, the first symptom of scleroderma is Raynaud’s phenomenon, a condition when blood vessels in the fingers constrict, typically in response to cold temperatures. As a result, the tips of the fingers can look white or blue from decreased blood flow.
“For 95 percent of people, Raynaud’s phenomenon is the beginning, and that may be the only symptom for a few months or a year, before any other feature,” Dr. Orzechowski says.
But if you notice your fingertips turning blue in the cold, it doesn’t mean you have scleroderma; not all people with Raynaud’s develop it. It’s more likely if the Raynaud’s starts in your 30s, 40s or 50s, rather than earlier in life, Dr. Orzechowski says.
If you develop Raynaud’s phenomenon, your provider can use a tool called a dermatoscope to look closely at the small blood vessels underneath your nails to determine if you have primary Raynaud’s, which is considered benign, or secondary, which is associated with several autoimmune disorders in addition to scleroderma, including lupus and rheumatoid arthritis.
Usually, the next symptom that appears is thickening of the skin, often starting in the fingers and hands, which might make movement difficult. You might also have patches or lines of thickened skin on the face, upper arms, chest, torso and legs.
“The skin might look tight, shiny or puffy,” Dr. Orzechowski says. “It usually doesn’t hurt, but it can be dry or itchy. One common tipoff is that you notice you lose the wrinkles in your knuckles.”
For most people with scleroderma, patches or lines of thickened skin are the only symptom; this is called localized scleroderma, and a dermatologist can help manage it.
However, about a third of people have systemic scleroderma, in which both skin and major organs are affected by the buildup of tissue. Systemic scleroderma can be limited, meaning that skin symptoms are confined to one part of the body, or diffuse, meaning that the skin changes are more widespread.
Systemic scleroderma can cause digestive symptoms such as acid reflux, swallowing difficulties, diarrhea and constipation; joint pain and stiffness; and kidney issues. If the lungs are affected, you could experience coughing and difficulty breathing, and it could eventually cause pulmonary fibrosis, a buildup of scar tissue that permanently damages the lungs. If the heart is affected, there is a risk of arrhythmia, high blood pressure and fluid buildup around the heart, all of which could eventually lead to heart failure.
“It’s so individualized, but because scleroderma can affect a lot of systems, this can be a really difficult disease,” Dr. Orzechowski says. “It’s chronic and life-altering. It’s helpful to keep track of your symptoms and to ask your rheumatologist if you have any questions.”
If your provider suspects scleroderma based on your symptoms, they can order antibody blood testing; the presence of certain antibodies in your blood can confirm the diagnosis and indicate what type of scleroderma you have. Your provider may also order scans or labs to see how your organs are functioning.
Scleroderma Treatment
There is no cure or systemic treatment for scleroderma. It’s about managing the specific symptoms you have.
“The treatment is really tailored to each patient, depending on the organ systems that are affected,” Dr. Orzechowski says. “We treat symptomatically, and if you have limited disease—minimal skin involvement and acid reflux, for example—you might not need any medication.”
For example, some people with scleroderma take blood pressure medications to address hypertension and prevent kidney issues, immunosuppressants for skin or lung concerns, or over-the-counter drugs to help with gastrointestinal upset.
Your long-term prognosis is affected by whether more severe symptoms affecting the heart or lungs develop, but Dr. Orzechowski says doctors have better treatment options for these complications than in years past.
Because scleroderma can affect so many different organs, you may need to see several different doctors, including rheumatologists, cardiologists, pulmonologists, dermatologists and gastroenterologists, to manage all of your symptoms and monitor progression.
“It can be a coordinated team effort, with lots of people to help care for the whole patient,” Dr. Orzechowski says. “It can be a lot of appointments, a lot of referrals, a lot of instructions about medications.”
The National Scleroderma Foundation maintains a list of treatment centers that provide multidisciplinary care or are designated research and treatment centers; UNC is one. They can also connect you with an experienced rheumatologist if you do not live near a center.
Living with Scleroderma
In addition to working with your providers to reduce symptoms with medication, there are lifestyle changes you can make to help.
“Fatigue comes with any autoimmune disorder, so we counsel patients on pacing yourself, managing stress, eating a healthy diet, getting good sleep and avoiding alcohol and smoking,” Dr. Orzechowski says. “It’s also important to attend to your mental health, because living with a chronic disease that can be debilitating is difficult.”
Your team can help you determine specific things that can manage or prevent symptoms; if you’re experiencing gastrointestinal problems, for example, it can be helpful to eat very small meals more frequently, rather than three large meals. Regular exercise can help with joint issues and maintaining your cardiovascular health. Dressing warmly can prevent an episode of Raynaud’s phenomenon, and using gentle skin care products, including moisturizer, can improve dry or irritated skin.
It’s also helpful to get as much information as possible and find others who have the disorder.
“The National Scleroderma Foundation is a wonderful resource to learn about the disease and how to advocate for yourself,” Dr. Orzechowski says. “They have support groups, and connecting with other people who have been living with scleroderma for years is really helpful.”
Dr. Orzechowski thinks people with scleroderma will have more treatment options in the coming years.
“This is a condition that’s being studied quite a bit right now, and there’s been lots of progress in the last 10 years to understand it,” she says. “I’m hopeful that in the next 10 years, there will be more breakthroughs for people with scleroderma.”
If you’re concerned about changes to your skin, talk to your doctor. If you need a doctor, find one near you.