Systemic Sclerosis (Scleroderma)

Systemic Sclerosis

By: Dr Bridget Hodkinson

Dr Bridget Hodkinson is a South African physician and rheumatologist working at the University of Cape Town.

The term “scleroderma” is derived from the Greek for ‘hard skin’. Systemic sclerosis (SSc) or scleroderma is a multisystem autoimmune disease in which there is fibrosis of the skin and internal organs. The cause of the disease is not well understood, but there is interaction between fibrobalsts (the cells in the skin and organs that lay down scar tissue), blood vessels and inflammation.

SSc occurs worldwide amongst all ethnic groups, and is a rare disease affecting women more commonly than men, with a usual age of onset of 30-50 years, but it can affect any age group. It is very uncommon in children.

There are two types of SSc, depending on the extent of skin thickening- either limited (skin changes affect the forearms and lower legs, and sometimes the face) or diffuse (more widespread involvement). Limited SSc is sometimes known as the CREST syndrome (Calcinosis, Raynaud’s disease, (O)Esophageal dysmotility, Sclerodactyly,Telangiectasia). Very rarely, there is internal organ involvement without the skin changes called systemic sclerosis sine scleroderma.

What causes SSc?

The cause is unknown, although there is probably a genetic or family risk, although most SSc patients have no relatives with the disease. Environmental factors may play a role in triggering the disease. These may include viruses (such as cytomegalovirus), chemicals (such as vinyl chloride, some pesticides, benzene derivatives and silica), and drugs (such as cocaine, appetite suppressants, penicillamine and vitamin K).

What are the symptoms?

Diagnosis may be difficult, particularly in the early stages, as symptoms overlap with other connective tissue diseases. Diagnosis depends on the overall clinical picture rather than on one specific blood test or x-ray.

The most striking changes are in the skin. Puffy fingers, and skin thickening and hardening in hands or face are common. Hand movements may become reduced, resulting in the “prayer sign” where the patient is unable to place the palms together. Raynaud’s phenomenon is characteristic.

Ischaemic pits
Scars on the fingertips are characteristic of SSc, due to the reduced blood supply. Patients should wear gloves and avoid exposure to cold.

This refers to colour changes (white, blue and red) of the fingers and sometimes toes in response to cold. It occurs when blood flow to the hands and fingers is temporarily reduced. It is important to remember that Raynaud’s can be caused by conditions other than SSc. In other words, not every person experiencing these colour changes has SSc. Fingertips may have little scars, ulcers or loss of bulk from finger pads. Severe Raynaulds can lead to gangrene, resulting in amputation. Telangiectasia (red spots caused by dilated vessels on the face and hands), and calcinosis (little lumps of chalky material under the skin) may occur. Many patients with diffuse SSc develop ‘salt and pepper’ appearance of skin, due to areas of increased and decreased pigmentation. Skin tends to be dry, itchy and may crack easily. Changes tend to be worst in the first 3 to 5 years of the disease, and then the skin may soften.

Many patients experience tiredness and musculoskeletal pains .The disease may also be complicated by internal organ involvement. The oesophagus (foodpipe) may develop fibroses, causing heartburn. Other problems of the digestive tract include difficulty swallowing food, bloating and constipation, or problems absorbing food leading to weight loss and diarrhoea. The lungs can get inflamed and scarred leading to shortness of breath, and some patients develop high pressure in their pulmonary blood vessels (called pulmonary hypertension). Arthritis, restricted movements of the joints, and muscle inflammation may occur. Occasionally high blood pressure with kidney failure occurs in SSc patients.

In terms of blood tests, the antinuclear antibody (ANA) is usually positive and other antibodies such as the anti-topoisomerase 1 antibody (Scl-70) or anti-centromere antibody (ACA) may be positive.

Treatment:

There is no cure for SSc, and management consists of controlling symptoms and preventing complications. The disease course varies with each individual. This disease is best treated by a physician (usually a rheumatologist) with experience in treating SSc.

Living with scleroderma is challenging. Everyday activities can sometimes be difficult due to physical limitations and pain. Problems with digestion may require changes in diet; patients often have to eat several small meals rather than fewer large meals. Patients must also keep the skin well-moisturized to lessen stiffness, and creams such as Eucerin cream may help dry or itchy skin. Be careful to avoid finger injuries during activities such as gardening, cooking and opening envelopes. To keep the body warm, patients should dress in layers; wear socks, boots and gloves; and avoid very cold rooms. Unfortunately, moving to a warmer climate does not necessarily lead to dramatic improvement. Home exercises to maintain range of motion (such as gentle mouth, face and hand stretches) may ease stiffness in the joints. For heartburn, maintaining an upright posture after meals; raising the head of the bed and limiting alcohol and smoking will help. Proton pump inhibitors (for example Omeprazole) are very effective.

Depending in the extent of skin or internal organ involvement, immunosuppressive therapy may be useful. Cyclophosphamide is the most commonly used, generally as a monthly intravenous drip, and can improve lung and skin involvement. Other immunosupressants such as mycophenolate mofetil, azathioprine and methotrexate may also be beneficial. Newer targeted therapies are being tested.

Staying involved and educated about the illness, and developing a good relationship with your rheumatology doctor and nurse will help. The psychological impact living with a disease that is chronic, uncommon and currently incurable should not be underestimated. Because scleroderma can cause significant changes in appearance, a patient’s self-esteem and self-image are almost always affected. The support of family and friends is vital in helping to maintain a good quality of life. Support groups of other SSc patients are very useful source of practical information and care.

Treating Raynaud’s phenomenon or fingertip ulcers?

  1. Avoid cold (use gloves) and putting hands in cold water
  2. Stop cigarette smoking
  3. Medication can improve blood flow to the fingers: nifedipine, amlodipine, enalopril and losartan are all blood pressure tablets that help
  4. Nitroglycerin (ointment) or tablets crushed into a paste applied to the ulcers can help healing.
  5. Phosphodiesterase-5 inhibitors (sildenalfil) or prostaglandins ( iloprost) given as a drip over 3 to 5 days
  6. If a finger is very painful or the colour changes are persistent, or an ulcer is not healing, contact your doctor or emergency room. Do not wait until your finger is black because it may be impossible to save it.

 

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