Out of all of the autoimmune diagnoses in the United States, scleroderma makes up just around 0.06% of diagnosed cases. If you or a loved one has recently been diagnosed with scleroderma or systemic sclerosis, there’s a high chance you haven’t heard of this disease. Here to answer all of your questions, including scleroderma life expectancy, treatments, and more is Summit Rheumatology’s Arizona scleroderma specialist, Dr. Brittany Panico, DO.

Q: What is scleroderma, and is it different from CREST syndrome?

Scleroderma, also called systemic sclerosis, is a chronic autoimmune condition that affects skin, connective tissue, and internal organs. People with scleroderma have an irregular development of collagen, a protein in the body that provides structure and support to your connective tissues. When there is a buildup of collagen, connective tissues throughout the body begin to toughen and harden. This can visibly affect the skin, but also affects internal organs like the lungs and blood vessels.

There are two main types of scleroderma: localized, or limited, scleroderma and systemic sclerosis. Localized scleroderma is a milder form that mainly affects the skin and typically does not involve the organs. Systemic sclerosis affects the skin, joints, and internal organs. Your scleroderma specialist will be able to distinguish which form of scleroderma you have based on the presence of certain symptoms, autoimmune labs, and other testing.

Systemic sclerosis can be classified as additional subtypes depending on the organs and locations it affects. CREST syndrome is a type of scleroderma that is identified by the presence of 5 key indicators: calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia. CREST syndrome often affects the skin of the face, hands, and feet, the blood vessels, muscles, and the digestive tract. Patients can also develop high blood pressure within the lungs, called pulmonary hypertension.

CREST syndrome progresses more slowly and has a better prognosis than diffuse systemic sclerosis, another sub-type of systemic sclerosis.

• People with CREST syndrome often experience the following symptoms:
• Fingers and toes that turn blue with cold or stress (Raynaud’s phenomenon)
• Small white bumps on the surface of the skin (calcinosis)
• Difficulty swallowing, difficult to treat heart burn, or digestive issues (esophageal dysmotility)
• Thickening and tightening of the skin on the fingers and toes (sclerodactyly)
• Small red spots on the skin from the dilation of blood vessels (telangiectasia)
• Pulmonary hypertension
• Kidney disease

Q: Is scleroderma genetic?

There is likely a genetic component to scleroderma, but not all who are diagnosed have a family history of the disease. Like other autoimmune diseases, the exact cause of scleroderma is unknown. Certain environmental conditions may trigger the onset of the disease, including toxins or chemicals, stress, smoking, and diet. However, there are no known factors that a patient has direct control over that trigger scleroderma, other than smoking.

When the immune system in those with scleroderma is triggered, antibodies begin to attack healthy connective tissues. This destruction and inflammation of connective tissues is what prompts your body to overproduce collagen as a response.

Q: Is there a scleroderma life expectancy?

Most individuals who are diagnosed with scleroderma have localized scleroderma, which is a mild form and does not affect life expectancy. For those with systemic sclerosis, the severity of the disease can vary greatly depending on the level of damage to the organs. In more severe and unmanaged cases, pulmonary complications and lung disease can become severe and potentially impact the quality of life or life expectancy.

The good news is that even for patients with more widespread scleroderma, proper disease management and treatment from a scleroderma specialist can improve symptoms and slow disease progression. According to the Rheumatologic Dermatology Society, the 10-year survival rate for individuals with limited cutaneous systemic sclerosis (including CREST) is 90%. For those with diffuse cutaneous systemic sclerosis, the 10-year survival rate is 75%. We know that the earlier someone seeks treatment, the better the outcomes tend to be.

Q: What treatments are available for scleroderma?

Your rheumatologist or scleroderma specialist at Summit Rheumatology will build an individualized scleroderma treatment plan that focuses on minimizing symptoms and aims to slow disease progression. Treatment for scleroderma will treat many of your symptoms individually and will differ depending on your symptoms and the areas of the body affected.

Raynaud’s Phenomenon Treatments

Many people with scleroderma are prescribed blood pressure medications to help manage Raynaud’s phenomenon, which causes poor circulation in the extremities (mainly fingers and toes). Calcium channel blockers and PDE-5 inhibitors may help improve circulation. In more mild cases, topical creams like nitroglycerine can treat skin ulcers.

Scleroderma Esophagus and GI Treatment

Acid reflux is a common symptom of scleroderma and is caused by the thickening of the sphincter muscle that prevents food from traveling up the esophagus. As a result, food and stomach acid move back up the throat and cause reflux or heartburn.

Proton pump inhibitors like omeprazole and esomeprazole are over-the-counter medications that can reduce acid reflux in people with scleroderma. Your scleroderma specialist may prescribe stronger proton pump inhibitors like rabeprazole and pantoprazole if symptoms don’t improve with over-the-counter options.

Gastroparesis is also a side effect of scleroderma and is caused by dilated blood vessels in the stomach lining. This may slow the process of digestion, meaning it takes longer for food to move through the GI tract and fully digest.

Bloating, gas, nausea, and vomiting from gastroparesis can be treated with metoclopramide (Reglan) or erythromycin. You may be referred to a gastroenterologist if you are diagnosed with scleroderma so that symptoms can be managed the best way possible.

Difficulty swallowing caused by tightened muscles in the throat may also be treated with proton pump inhibitors, Reglan, or H-2 blockers (Pepsid, Zantac).

Scleroderma Treatments for the Skin

Mycophenolate, methotrexate, and IVIG are immunosuppressant drugs that may be prescribed to treat skin symptoms associated with scleroderma. Scleroderma symptoms occur when the immune system attacks healthy connective tissues in the skin and causes the skin to get thinner and tighten over the face, chest, hands, and feet. Mycophenolate can help decrease the immune system from attacking healthy tissue and slow the progression of collagen build-up in those areas.

Scleroderma Lung Treatment

Patients with the more widespread form of scleroderma (diffuse systemic sclerosis), may require medications to manage interstitial lung disease. Your scleroderma specialist may refer you to a pulmonologist depending on the severity of your symptoms.

Pirfenidone and nintedanib are antifibrotic medications that may be prescribed to treat interstitial lung disease caused by scleroderma. Other medications may include:

• GSC stimulators to increase nitric oxide and lower lung pressure
• High-dose calcium channel blockers relax the walls of blood vessels
• Blood thinners may reduce the risk of blood clots
• Oxygen therapy can help make breathing easier

Scleroderma Renal Crisis Treatment

Kidney complications are rare in people with localized scleroderma but can develop in more severe cases of diffuse systemic sclerosis. Referred to as renal crisis, kidney complications are serious and may require hospitalization to treat. Medications for renal crisis will likely include ACE inhibitors like captopril, enalapril, or lisinopril. Sometimes, dialysis may be necessary to remove water and toxins that build up in the body.

Q: Are there lifestyle changes I can make to help manage scleroderma symptoms?

A combination of medications and lifestyle changes can certainly help reduce scleroderma symptoms. Simple changes like dressing warmly and wearing gloves can manage Raynaud’s phenomenon while avoiding hot baths and showers, daily sunscreen application, and avoiding skin contact with harsh chemicals can improve skin health.

For GI problems caused by scleroderma, sleeping in an upright position and avoiding certain foods that trigger acid reflux, including spicy and acidic foods, caffeine, peppermint, chocolate, and alcohol may be helpful. Eating smaller meals and avoiding eating before bedtime can also help manage GERD and acid reflux.

Finally, frequent exercise helps keep skin loose and flexible. If you are a smoker, it is advised to stop the habit as nicotine makes scleroderma worse.

Q: Where can I learn more or find a scleroderma specialist?

There are several great resources available to learn more and find extra support.

• National Scleroderma Foundation
• Scleroderma Research Foundation
• National Organization for Rare Disorders
• American College of Rheumatology

Your rheumatologist or scleroderma specialist is also a great resource if you have any questions surrounding scleroderma, including treatment and symptom management.

Summit Rheumatology offers scleroderma treatment in Gilbert, Arizona. Our rheumatology specialists are currently accepting new scleroderma patients. Give us a call at (480) 494-2770 or send us a message to schedule an appointment with a scleroderma specialist.