Systemic Sclerosis (Scleroderma)
What is Systemic sclerosis (Scleroderma) ?
Scleroderma literally means ” hard skin,” which is a common finding in this disease. It occurs due to the abnormal growth of connective tissue. There are broadly two categories of scleroderma: localized scleroderma ( affects skin and rarely muscles ) and systemic sclerosis ( affects skin and internal organs like heart, lung, intestines etc). Localized scleroderma generally remains limited and does not progress to the systemic form. Localized scleroderma further can two types; morphea and linear. Systemic sclerosis affects the skin, muscles, blood vessels and internal organs. It is often divided into diffuse and limited disease. Diffuse systemic sclerosis is a rare disease that can be severe and sometimes life-threatening.
What causes it ?
The exact cause of scleroderma is not known. However, it has been known that body makes too much of collagen ( substance that heals and gives us scars ) that gets deposited in the skin and other body organs, causing the skin to tighten and harden and the organs to dysfunction. Another component is abnormal function of cells in the lining of blood vessels, which leads to Raynaud’s phenomenon which is discoloration of fingers or toes on cold exposure (pallor, blue fingers or toes) and telangiectasias (red spots). These abnormalities are triggered by abnormal functioning of our own immune cells.
Symptoms Localized Scleroderma
The symptoms of localized scleroderma are isolated to the skin and underlying tissues. Two types are recognized: morphea and linear scleroderma.
· Morphea : These are local patches of hardened skin. Red patches of skin develop white centers with purplish borders. Lesions remain active for weeks to several years. Spontaneous softening that leaves a darkened area of skin often occurs. It may be localized or generalized.
· Linear: A single line or band of thickened and discolored skin develops. The line usually runs down and arm or leg, but sometimes it runs down the forehead.
This disease affects not only the skin and underlying tissues, but also affects the blood vessels and major organs of the body. Two types of systemic disease are recognized: limited and diffuse.
· Limited: In this form, skin thickening is generally limited to the fingers, forearms, legs, face and neck. Raynaud’s phenomenon ( fingers turning blue or pale on cold exposure) may be present for years before any other symptoms develop. People with this form are less likely than people with diffuse disease to develop severe organ involvement.
· Diffuse: In this form, skin thickening may occur everywhere on the body, including the trunk. Only a short interval of time will elapse between the onset of Raynaud’s phenomenon and significant organ involvement. Damage typically occurs over the first three to five years, after which most patients enter a stable phase that varies in length. During this phase, your skin will stay about the same and the rate of damage to internal organs slows or stops. After the stable phase is over, your skin will start to soften and more serious damage to internal organs is unlikely to occur.
How to confirm the diagnosis?
A diagnosis could take months as the disease unfolds and as the doctor is able to rule out other possible causes of your symptoms. Diagnosis is made clinically by the doctor familiar with the disease. There is no direct blood test that can confirm the diagnosis. Special tests may be ordered to evaluate your lung status ( such as a chest X-ray, pulmonary function tests) and gastrointestinal tract function.
What is the Treatment?
Several treatments are effective at preventing and/ or reducing organ damage from this disease. While treatments are not able to reverse the disease, they may actually prolong life. So treatment decisions are made on a symptom-by-symptom, organ-by-organ basis.
Don’t smoke. Smoking narrows blood vessels, making Raynaud’s worse.
Avoid the cold as much as possible.
Dress warmly, in layers. Mittens are warmer than gloves. Use drugs prescribed by your doctor to improve your circulation ( Calcium channel blockers, angiotensin receptor blockers, ACE inhibitors etc.) Skin sores and ulcers can be treated with nitroglycerin paste or antibiotic cream. Narcotic analgesics may be necessary to treat the pain of these ulcers.
Apply moisturizing creams and lotions frequently, especially after bathing. Apply sunscreen before going outdoors. Use only warm water in your bath or shower ( hot water is too drying) Avoid harsh soaps, household cleaners and caustic chemicals. Use rubber gloves if you cannot avoid harsh chemicals. Itching can be treated with oral antihistamines, topical analgesics and topical corticosteroids.
Stiff muscles and joints
Get regular exercise to maintain range of motion and muscle strength. Use pain killers or arthritis medicines as prescribed by your doctor.
Practice good oral hygiene – brush and floss regularly. Use fluoride rinses or prescription toothpastes. See your dentist regularly. Keep your mouth moist by taking frequent sips of water, chewing sugarless gum or using saliva substitutes. Perform facial exercises to help keep your mouth and face flexible.
Eat small, frequent meals. Remain standing or sitting at least one hour after eating. Avoid late-night meals. Chew food well. Proton pump inhibitors, such as omeprazole and lansoprazole, can be taken for heartburn. Promotility agents may help move food through the gastrointestinal tract. Antibiotics may relieve diarrhea caused by bacterial overgrowth. Vitamin supplementation may be needed
Immunosuppressive drugs such as cyclophosphamide and azathioprine, along with low-dose steroids can be used to treat interstitial lung disease. Vasodilators such as tadalafil, prostacyclin, Bosentancan be used to treat pulmonary hypertension. Get regular check-ups with your doctor and have lung function tests performed often so that lung disease can be caught early and treated. Get flu and pneumonia vaccines.
Measure BP regularly and alert your doctor if it is high. Angiotensin- Converting Enzymes (ACE) inhibitors, including captopril, enalapril and ramipril can effectively manage acute renal crisis by lowering high blood pressure.
Treatments for heart disease vary according to the way the heart is being affected by systemic sclerosis.
Who is at risk of getting this disease ?
Anyone can get scleroderma at any age. Women are more commonly diagnosed with scleroderma than men. In fact women with the disease outnumber men with it by about four-to-one. Localized scleroderma is more common in children and young women. Morphea usually appears between the ages of 20 and 40. Linear scleroderma usually occurs in children or teenagers.Systemic sclerosis, whether limited or diffuse, typically occurs in people 30 to 50 years of age.
Localized scleroderma is not life-threatening. Systemic sclerosis patients are at risk of serious complications, kidney disease, Pulmorary Arterial Hypertension (PAH) (high blood pressure in the arteries around the lugs), alveolitis ( inflammation of the lungs), Gastro-intestinal ( GI ) disease and heart damage that can be severe and adversely affect the quality of life.
Any female diagnosed with scleroderma needs to check with her physician and obstetrician to discuss possible complications associated with having children. If scleroderma has stabilized, then the physicians are better able to determine if the body can handle pregnancy and childbirth. The genetic risk of transmission of disease to children is negligible.