Scleroderma is a condition in which your body produces too much collagen, a protein that is necessary for healthy skin and tissue. It can cause several internal and external symptoms throughout your body and may even lead to life-threatening complications.
Scleroderma is a rare disease, estimated to affect approximately 250 out of every 1 million people in the US. Around 100,000 people in the US currently have systemic scleroderma.
Scleroderma is a type of autoimmune disorder that causes the immune system to mistakenly attack and damage healthy body tissue.
It is not known what causes scleroderma, but the buildup of a substance called collagen in the skin and other organs leads to the symptoms of the disease. There are two types of scleroderma: localized and systemic. Localized primarily affects the skin while systemic affects the internal organs.
The disease most often affects people aged 30 to 50 years and women get scleroderma more often than men. Some people with scleroderma have a history of being around silica dust and polyvinyl chloride, but most do not. Widespread scleroderma can occur with other autoimmune diseases, including systemic lupus erythematosus and polymyositis. These cases are referred to as undifferentiated connective tissue disease or overlap syndrome.
RISK FACTORS
Since the cause of the disease is unknown, anyone can develop scleroderma. Some groups of people have a higher risk:
Females are 4X more likely than people males to develop scleroderma. As many as 80% of people diagnosed with scleroderma are women.
People 30 – 50 years old. It’s extremely rare for people younger than 30 to have scleroderma. Majority of localized types of scleroderma show up before age 40, and systemic types of scleroderma are typically diagnosed between ages 30 and 50.
African Americans are more likely to be diagnosed with scleroderma, usually develop it earlier, and are more likely to experience lung-related symptoms. They also usually have more severe skin symptoms.
Choctaw Native Americans and African Americans have a higher risk of systemic scleroderma than people of European descent. Localized scleroderma is more common in people of European descent.
Some Environmental Influences can put people at greater risk for scleroderma. Men who are exposed to silica, certain solvents, and specific drugs appear to have a higher risk.
SYMPTOMS
General Symptoms
Changes in your skin, such as thickened or waxy patches or streaks.
Pain and stiffness in your joints, especially in the morning.
Fatigue and exhaustion.
Unexplained weight loss.
Localized Scleroderma Symptoms
Patches of thick skin on the chest, abdomen (around the stomach), arms and legs (limbs), hands and fingers, feet, and toes.
Localized scleroderma rarely affects internal organs, so there will likely be no internal symptoms.
Systemic Sclerosis (Widespread) Symptoms
Larger patches of skin thickening, especially on the face, hands, and fingers that spread toward the center of the body.
Raynaud’s syndrome, in which your fingers and toes may turn white, reddish, or purple when exposed to cold.
Other Affected Areas
Numbness and swelling in your muscles, particularly in your hands and feet.
Stiffness, swelling, and limited mobility in your joints.
Coughing and shortness of breath.
Trouble swallowing
Abnormal heartbeats, fluid buildup around the heart, and thickened heart muscle.
Symptoms may develop quickly in the first few years and worsen over time.
People with localized scleroderma or only skin symptoms have a better prognosis.
Systemic scleroderma often comes with severe complications such as:
Heart failure
Scarring of the lungs (pulmonary fibrosis)
High blood pressure in the lungs (pulmonary hypertension)
Kidney failure (scleroderma renal crisis)
Nutrient absorption problems
Cancer
WHEN TO SEE A DOCTOR
Since scleroderma is rare and causes so many different symptoms—and many of the symptoms can indicate other conditions—it can sometimes be hard to notice at first. If you notice new or worsening pain, visit your healthcare provider. Even if something else is causing your symptoms, a diagnosis will help you find relief.
If you have been diagnosed but feel that your treatments are no longer working, talk to your provider, especially if your symptoms affect your ability to breathe or swallow.
Call 911 (or your local emergency number) or go to the emergency room if you’re experiencing heart attack symptoms like chest pain, trouble breathing, or you feel like you can’t swallow.
DIAGNOSTIC TEST
There is no single test that can diagnose scleroderma. If your doctor suspects you may have this condition, you’ll undergo several tests, including:
Blood tests to check how well your immune system is working.
Pulmonary function tests to determine if your lungs or respiratory system are being affected.
If you’re experiencing skin symptoms, a biopsy will be performed to help determine the cause.
Endoscopy, which will allow your doctor to look inside your throat or stomach, especially if you have gastrointestinal symptoms.
Electrocardiogram (ECG) to check the electrical activity of your heart.
Echocardiogram (Echo), which uses sound waves to create images of your heart and check for issues.
Chest X-ray to check for lung and heart problems.
CT scan to take detailed images of the inside of your body, focusing on the chest and internal organs.
TREATMENT
General Approach
There is no cure for scleroderma. Treatment focuses on managing your symptoms and reducing their impact on your daily life.
The type of treatment you will be prescribed depends on the type of scleroderma you have and the severity of your symptoms.
Skin Treatments
Moisturizers and creams will help prevent your skin from drying out.
Immunosuppressants may be prescribed to prevent your immune system from attacking healthy cells and tissues.
Symptom-specific medicines may be prescribed to control your blood pressure, manage kidney failure, relieve any GI symptoms, and improve your breathing.
Physical Therapy
You may work with a physical therapist to improve your body’s movement and maintain mobility.
Advanced Treatments
Stem cell transplants have shown promising results. This treatment replaces damaged blood cells with healthy donor cells for patients with severe symptoms.
If you’ve been diagnosed with scleroderma, you should avoid things that exacerbate your symptoms. This will likely differ from patient to patient, but common things to avoid include:
Cold temperatures and dry climates
Nicotine products, as they can make lung problems worse
Things that dry out your skin, such as very hot showers and baths
Corticosteroids, as they can increase your risk of kidney failure
A sedentary lifestyle. Exercising at an intensity that is comfortable for you will help you retain your strength. Talk to your doctor about exercises that would be beneficial for you and which to avoid.
What causes scleroderma?
Doctors and experts don’t know what causes scleroderma. Some studies have shown that it may be genetic, but since it is so rare, it’s difficult to prove that it runs in families or pinpoint any cause.
How is scleroderma diagnosed?
Since there is no single test for scleroderma, a clinical diagnosis requires a thorough exam and several tests.
When seeking a diagnosis, you may need to visit a rheumatologist, a healthcare provider who specializes in autoimmune disorders. Your rheumatologist and physician will work together to determine the right course of action to diagnose and treat your symptoms.
Is there a cure for scleroderma?
There is currently no cure for scleroderma, but your healthcare provider will help you find the right treatments to help manage your symptoms and minimize how much the disease impacts your daily routine.
Can I prevent scleroderma?
Since scleroderma has no known cause, there is no way to prevent it.
What happens after being diagnosed with scleroderma?
After diagnosis, your doctor will determine the type of scleroderma you have to help you understand its effects and the available treatments. From there, you will work with your provider to determine which treatments will be most effective for you.
What can I expect if I have scleroderma?
Scleroderma is a lifelong disease so you will manage it for the rest of your life. With treatments and small lifestyle changes, many people can live full lives after diagnosis. Still, a chronic condition can be difficult to come to terms with. We recommend seeking out support groups or mental health professionals to help you with any stress.
How can I take care of myself?
Staying on top of your treatments and checking in with your healthcare provider when you notice new or worsening symptoms are two of the best ways to care for yourself after a scleroderma diagnosis. In addition:
Eat a healthy diet and try to get at least 30 minutes of movement every day.
Don’t push yourself too hard. Rest when you need it.
Protect your skin with the right clothing for your environment, high-quality sunscreen, and unscented moisturizers.
Is it genetic?
Studies show that genetics does play a role in the disease, but it is not hereditary, meaning it is not passed on from parents to children.
Additionally, it is rare for immediate family members of those with scleroderma to get it. However, it is common for family members to have other autoimmune diseases such as thyroid disease, rheumatoid arthritis, or lupus.
Is it a serious disease?
Chronic conditions are serious, including scleroderma. But that doesn’t mean scleroderma has to control your life.
What scleroderma is a life-threatening disease?
Most people who are diagnosed with scleroderma won’t experience life-threatening complications.
Systemic scleroderma comes with a higher risk of serious complications since it affects your internal organs. Your healthcare provider will provide information on what you can expect and if you are likely to have a higher risk of fatal complications.
What is the life expectancy for people with scleroderma?
Your life expectancy depends on the type of scleroderma you have.
People with localized scleroderma typically live a healthy and long life with only minor symptoms. On the other hand, people with systemic scleroderma usually have an 80% survival rate after five years and a 60% survival rate after 10 years. The most significant risk comes from lung complications like pulmonary hypertension and interstitial lung disease.
Is scleroderma more serious than lupus?
This depends on the type of scleroderma. 10-year survival rates for lupus are 85–90%. For systemic scleroderma, the 5-year survival rates are up to 80%.
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If you’re experiencing GI issues as a result of scleroderma or you suspect you may have this disease, we’re here to help you find relief. Charleston Gastroenterology is committed to a higher standard of care, and we provide a range of medical treatments to help you feel your best.
