What is scleroderma?
Scleroderma is an autoimmune disease that affects many different areas of the body. Inflammation and scarring result in the disruption of structures and functions. While different organs, such as lungs, intestine, heart, kidneys or joints can be involved; skin involvement is most common. In patients, skin of the hands and feet, chest, abdomen, and/or face may become thick and hard over time.
The main symptoms of scleroderma
Scleroderma results from when the body's immune system begins to malfunction and attacks healthy tissue in various parts of the body, causing inflammation and damage. The most common tissue affected by scleroderma is the skin. When the immune system attacks the skin in scleroderma, the body responds by producing too much collagen, resulting in a thickening, and hardening of the skin. The word scleroderma comes from Latin and translates to “hard skin".
Joint pain and stiffness in the hands can present at disease onset. In some forms of scleroderma, internal organs may also be affected. Lung or heart involvement leads to shortness of breath, cough or light-headedness. The upper and lower gastrointestinal tracts can also be involved, resulting in heart burn, difficulty swallowing, and chronic diarrhea. Although kidney involvement is rare, it can be serious and patients can rapidly develop kidney failure.
Getting a diagnosis of scleroderma
The diagnosis of scleroderma is based on a combination of medical history, physical examination, and laboratory test results. Blood antibodies characteristic of scleroderma are important, although not diagnostic. Additional diagnostic tests should be performed to determine if there is involvement of the intestine, lungs, heart, or kidneys.
If your doctor believes you could have scleroderma, you will usually be referred to a rheumatologist—a specialist in the treatment of scleroderma and other diseases which affect joints. Rheumatologists have additional training and experience in the diagnosis and treatment of scleroderma and related conditions.
Treatment for scleroderma
Once your rheumatologist has confirmed the diagnosis of scleroderma, there are treatments available which vary depending on the form of the disease and the involved organs. There is no known cure for scleroderma, and treatments therefore focus on controlling symptoms and preventing disease progression.
Medications
Medication for scleroderma depends on the severity of symptoms, and involvement of internal organ. Medications used for treatment can be summarized based on the organ involvement:
- Skin: Disease-modifying anti-rheumatic drugs (DMARDs), such as mycophenolate mofetil (CellCept®), methotrexate, and cyclophosphamide. Biologics such as Rituximab.
- Raynauds: Calcium channel blockers, such as Nifedipine and Amlodipine. PDE-5 inhibitors ⎼ sildenafil (Viagra), tadalafil (Cialis).
- Arthritis: Non-steroidal anti-inflammatory drugs (NSAIDs). Disease-modifying anti-rheumatic drugs (DMARDs), such as mycophenolate mofetil (CellCept®), methotrexate, sulfasalazine, and hydroxychloroquine. Biologics, similar to those used for rheumatoid arthritis.
- Lung disease: Disease-modifying anti-rheumatic drugs (DMARDs), such as mycophenolate mofetil (CellCept®), azathioprine, methotrexate, and cyclophosphamide. Biologics such as IL-6 inhibitors and Rituximab. Anti-fibrotic medications, such as Nintedanib.
- Pulmonary hypertension: Various classes of vasodilator medications that reduce resistance in the blood vessels by increasing their size. PDE-5 inhibitors ⎼ sildenafil (Viagra), tadalafil (Cialis). Endothelin-1 receptor antagonists — Bosentan, macitentan, Ambrisentan. Prostacyclin agonist – Epoprostenol, Treprostinil, Iloprost, Selexipag.
- Kidney disease: ACE inhibitors are medications that help relax the blood vessels to lower blood pressure.
The goal with medications is reduce the risk of complications, to bring symptoms under control and slow the progression of the disease, as well as to prevent or minimize damage to internal organs.
Surgical and interventional therapy
- Amputation – can be considered for severe finger ulcers that do not improve with medical therapy.
- Stem cell transplant – may be an option for patients with diffuse scleroderma in the early disease stage.
- Lung transplant – often considered for patients with severe interstitial lung disease or pulmonary arterial hypertension.
- Renal replacement therapy – considered for patients with acute kidney failure secondary to scleroderma kidney disease.
Risk of kidney disease and blood pressure monitoring
Often used in the early stages of kidney disease in patients with scleroderma, especially those with rapidly progressive skin involvement. Patients’ kidney functions are monitored by blood work but an early sign of kidney disease is high blood pressure. Regular monitoring of blood pressure is essential. In addition, use of glucocorticoid (steroid medication) may increase the risk of kidney disease and rheumatologists should be consulted.
Other internal organ monitoring
In patients with scleroderma, regular monitoring should be done for pulmonary hypertension (high blood pressure in the lungs) and interstitial lung disease (scarring of lungs). This cannot be tested with a blood pressure cuff. An ultrasound of the heart (echocardiogram) and pulmonary function test should be done every 6 to 12 months in most patients with scleroderma to look for early signs of these treatable complications.
Non-medical management
There are things that people can do at home to self-care or “manage” scleroderma symptoms. It is important to keep skin well-moisturized and joints protected. Recommendations for people with scleroderma include:
- Using a humidifier at home to keep skin from becoming dry
- Keeping skin moisturized with lotions
- Avoiding skin creams containing strong perfumes
- Moisturizing eyes with eyedrops
- Not smoking or quitting smoking
- Getting sufficient physical activity, including range-of-motion exercises
- Avoiding foods that cause heartburn/acid reflux, and avoiding meals late in the evening
Lifestyle
Maintaining a healthy lifestyle is also an important part of any scleroderma treatment plan. Eating foods with excess amounts of simple sugars may worsen symptoms. Well balanced meals and nutritious snacks can help to fuel the body and regulate hormones. Daily movement such as yoga and stretching help to keep muscles and joints mobile. While these habits may seem small, they can have a profound impact on one’s life. Remember to start small, and progress from there.
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