What is Scleroderma?

By Dr. Peter Lee, Medical Advisor to the Scleroderma Society of Ontario, Staff Rheumatologist at Wellesley Hospital and Professor of Medicine at the University of Toronto.

What is scleroderma? Scleroderma is a rare disorder of connective tissue due to excess production of collagen by cells called fibroblasts. In localized scleroderma only the skin is affected. In the systemic form (systemic sclerosis [SSc]), blood vessels, joints and various internal organs, especially the gastrointestinal tract (gut), lungs, heart and kidneys may be involved as well. This results in thickening and tightness of affected skin,joint pain, reduced blood flow to the fingers and toes and impaired function of internal organs. Scleroderma affects each patient differently, being more severe in those with extensive skin involvement.

Scleroderma (systemic sclerosis) affects between 10 to 20 of every 100,000 persons in the population. The disease most frequently presents between 30 to 50 years of age and is three to four times more common in women than men. The cause of scleroderma is unknown but it is not hereditary. Exposure to environmental agents (such as silica dust and vinyl chloride) and drugs may possibly bring on the disease in a susceptible person.

How scleroderma affects the patient
The patient with scleroderma usually presents with a variety of symptoms depending on which organs are involved. The most frequent presenting complaints are Raynaud's phenomenon, stiffness of the hands, joint pain and heartburn. Raynaud's phenomenon: The fingers and toes turn white or bluish in colour (due to reduced blood flow) following exposure to cold. When severe, the fingers and toes may become numb and painful. In extreme situations skin ulcers or gangrene can develop. Raynaud's phenomenon may precede other manifestations of scleroderma by many years.

Skin changes: The skin typically becomes thickened and tight, starting at the fingers and toes and spreading upwards towards the trunk as the disease progresses. Initially, the fingers may be swollen with a puffy appearance. Deformities and restricted movement of the fingers (inability to straighten or make a fist) are common. The skin often becomes darker. In other areas, there may be a loss of the normal skin colour (vitiligo). Telangiectasia are small red spots which frequently develop on the face, lips, tongue, upper chest and palms. They are due to damage and enlargement of small blood vessels, but are not harmful. Calcinosis refers to deposits of calcium which develop under the skin. They appear as small, white, hard lumps and are most commonly seen on the fingers and elbows. Occasionally the lesions may break through the skin discharging a chalky white material.

Joint and muscle involvement: Arthritis results in pain, stiffness and swelling of joints. The fingers, wrists and knees are most frequently affected. Muscle inflammation (myositis) results in weakness of the arms and legs. Patients experience difficulty raising their arms, getting up from a chair and climbing stairs.

Digestive problems: The gut is frequently involved and results in delayed movement of food through the bowel. Heartburn, difficulty swallowing, bloating and constipation are common symptoms. An inability to eat a normal-size meal may lead to weight loss. Stagnation of bowel contents may lead to excess growth of bacteria and result in abdominal pain and diarrhea. Heart and lung involvement: Chest pain may occur due to inflammation of the sac surrounding the lung (pleurisy) or heart (pericarditis). More serious involvement leads to shortness of breath from heart or lung failure. Palpitations from an irregular heart rhythm may occur.

Kidney problems: Kidney involvement in scleroderma is an infrequent but very serious problem as it is usually associated with high blood pressure and kidney failure. The problem may present with headaches, convulsions or shortness of breath. Prompt medical attention is necessary.

Sjogren's syndrome: Reduced production of tears and saliva (due to inflammation of the glands) results in dry eyes and mouth. Dental cavities are more frequent and some have difficulty swallowing. The nose, skin and vagina may also be affected. Treatment: Patients with scleroderma need to be assessed and treated by a rheumatologist. Various specialists will become part of the treatment team should skin, organ, dental and digestive problems arise. A number of tests are usually necessary to help determine which organs are affected and the severity of the disease. The clinical and laboratory findings will in turn dictate what treatment is necessary. There is no cure but a number of therapies can help slow down the disease or relieve symptoms.

Medications: In severe cases penicillamine or methotrexate are used in an attempt to control the disease.  Aspirin and other anti-inflammatory drugs are helpful in treating the arthritis.  Heartburn can be relieved with a variety of drugs including ranitidine and omeprazole.  Cisapride and domperidone may improve gut motility and improve heartburn and bloating.  Milk of magnesia and lactulose are useful in the management of chronic constipation.  Corticosteroids (prednisone) are used (infrequently) for muscle inflammation.  Medications used for treating high blood pressure (such as nifedipine)may help relieve Raynaud's phenomenon.

Exercise: Regular exercise improves overall health and fitness. In patients with scleroderma, exercise helps to maintain muscle strength and flexibility of joints, prevent deformities and improve blood flow. General exercise such as swimming, cycling or walking keeps you fit and flexible. People with scleroderma benefit from the recommendation of an experienced physiotherapist on how to perform exercise without causing pain and discomfort.

Physiotherapy: Since stiffness and tight skin restrict range of motion, an early referral to a physiotherapist with experience in scleroderma would be beneficial. A physiotherapist will develop an appropriate exercise program which may improve function. Since hands are often the first to be involved, hand exercises are extremely important.

Dress warmly when going outdoors in cold weather to avoid provoking attacks of Raynaud's phenomenon. This means wearing adequate clothing (several layers is better than a single heavy one) as well as warm gloves and a hat. Get enough sleep! Balance your activities. Listen to your body! Protect your skin. Scleroderma skin is more prone to dryness and cracking and can become infected especially during the winter. Apply liberal amounts of a moisturizing cream immediately after showering or bathing. Wear rubber gloves when washing dishes.

Who can help?
Occupational therapists can show you different ways of doing daily activities (such as opening jars, doors and drawers, carrying packages, ironing clothes or brushing teeth) that are easier and will help protect your joints rather than strain them. Special aids and gadgets of various kinds are available to help overcome certain functional difficulties. An occupational therapist can show you ways to adapt your home or workplace to your needs.

Social workers can assess the capacities of individuals, families and communities to cope with the effects of having acute and chronic conditions. A broad range of services are offered including individual emotional support, couple and family therapy, identification and referral to community resources available to meet environmental, financial or interpersonal needs. Invitations to participate in conversations about the effects of the disease allow the opportunity to talk about feelings, worry, fear and hope.