CREST syndrome

The immune system in people with CREST syndrome appears to stimulate cells called fibroblasts to produce excess amounts of collagen. The hallmark of scleroderma is progressive fibrosis of tissues. Normally, fibroblasts make collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs.

Although an abnormal immune system response and the resulting production of excess collagen appears to be the main cause of limited scleroderma, researchers suspect that other factors increase the risk to have the disease, including:

• Genetic factors: Having family members with an autoimmune disease
• Sex: It is more common in women than in men
• Race: Affects blacks and native Americans more than whites
• Environmental factors: Exposure to toxins, such as polyvinyl chloride, benzene, silica and trichloroethylene trigger the disease in people who have a genetic predisposition.

CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions — such as polymyositis, lupus and rheumatoid arthritis.

Diagnosis is usually based in the typical symptoms (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia). People with CREST syndrome usually present at least three of these five main clinical features, but the diagnosis can be made when only two these five features are present. Other exams that might help to make a diagnosis include:

• Blood exams: A blood sample can be tested for antibodies (ANA and anticentromere) that are frequently found in the blood of people with limited scleroderma. This isn't a definitive test because not everyone with limited scleroderma has these antibodies.
• Skin biopsy: Sometimes doctors take a small sample of skin that is then examined under a microscope in a laboratory. Biopsies can be helpful, but they can't definitively diagnose limited scleroderma either.
• Additional tests: Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted. The diagnosis of calcinosis (suspected based on finding the nodules) is confirmed with imaging studies. Multiple imaging studies are available to evaluate esophageal motility. The least invasive evaluation involves radiologic barium studies.

Unfortunately, CREST syndrome has no known cure. Treatment generally focuses on relieving symptoms and preventing complications:

Calcinosis : No treatment seems to be available to prevent or eliminate calcinosis. Large or painful calcium deposits sometimes need to be surgically removed, and amputation of fingertips may be necessary if the skin ulcers progress to gangrene. One or a combination of the following treatments may be tried on a case-by-case basis; however, larger studies are needed to prove efficacy.

• Corticoids oral or injected inside the lesion (intralesional)
• Probenecid
• Diltiazem
• Warfarin
• Aluminum hydroxide
• Bisphosphonate
• Minocycline
• Colchicine
• Intravenous immunoglobulin therapy

Raynaud phenomenon : The following treatment is suggested for the treatment of people with Raynaud phenomenon:

• Reduce and remove risk factors and possible triggers such as smoking, avoid a medication known as beta-blockers, and avoid any other remediable underlying cause (eg, use of vibratory equipment)
• Keep hands and body warm
• Take a medication that are long-acting formulations of calcium channel blockers
• Use topical nitroglycerin paste if needed.

Esophageal dysmotility : The treatment of esophageal dysmotility and gastroesophageal reflux in people with scleroderma is the same as in patients without scleroderma. Treatment involves behavior changes, medication (H2 blockers), and a surgical procedure (esophageal dilatation) in more severe cases. Esophageal dilatation can help when severe feeding difficulty or regurgitation occur due to an esophageal narrowing.

Sclerodactyly : Treatments include medication (corticosteroids, nonsteroidal anti-inflammatory drugs, D-penicillamine, IFN-gamma, cyclosporine, and cytostatic drugs). Skin involvement in CREST syndrome typically is not severe; therefore, treatment is not need in many cases.

Telangiectasia : Pulsed-dye laser treatment seems effective for the treatment the telangiectasia in the face, but this has not been specifically studied in CREST patients. Treatment may include estrogen-progesterone or desmopressin, laser ablation, or sclerotherapy.

Other treatment may include stretching exercises for the finger joints, and facial exercises that may help keep the face and mouth flexible, under a physical therapist supervision. If CREST syndrome is making it difficult to do daily tasks, an occupational therapist can help individuals learn new ways of doing things. For example, special toothbrushes and flossing devices can make it easier to care for the teeth. Surgery may be necessary for some affected individuals.

About 45% of people with systemic sclerosis may have depression and 64% also develop anxiety, so it is recommended to have an early assessment and treatment..

For pain management, studies have shown that oxycodone is effective and safe for pain due to severe skin ulcers, while topical lidocaine helps reduce pain of the finger's ulcers in people with systemic scleroderma.

There are also some lifestyle changes and home remedies that may be helpful for some people with CREST syndrome. For example:

• Wearing gloves and mittens is the weather is cool and/or dressing in layers and wear a hat, thermal socks and boots to maintain the body's core temperature and to reduce Raynaud's symptoms
• Quit smoking because nicotine constricts the blood vessels, making Raynaud's phenomenon worse
• Eating soft, moist foods and chewing food well when having swallowing difficulties
• Eating small, frequent meals; avoiding spicy or fatty foods, chocolate, caffeine, and alcohol; and avoid exercising immediately before or after eating to improve symptoms of acid reflux.
• Use of skin moisturizers and using an humidifier at home to improving moisture levels in the home to ease skin and breathing symptoms.

The information provided here is for general educational purposes only. Individuals interested in learning about specific treatment options for themselves or family members should speak with their doctors.