Definition

What is CREST syndrome?

CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease, namely Calcinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasia.

How common is CREST syndrome?

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of CREST syndrome?

The common symptoms of CREST syndrome are:

  • Calcinosis — Painful lumps of calcium in the skin. These can happen on your fingers or other parts of your body.
  • Raynaud’s phenomenon — White or cold skin on the hands and feet when you’re cold or stressed. It’s caused by blood flow problems.
  • Esophageal dysfunction — Problems swallowing and/or reflux. This is caused by scarring in the esophagus, the tube that runs from your mouth to your stomach.
  • Sclerodactyly – Tightness and thickening of finger or toe skin. It can make it hard to bend your fingers.
  • Telangiectasias — Red spots on the hands, palms, forearms, face, and lips. These are caused by widened blood vessels.

People with this form of the disease have at least two of the symptoms above.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes 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.

Risk factors

What increases my risk for CREST syndrome?

There are many risk factors for CREST syndrome, such as:

  • 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.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is CREST syndrome diagnosed?

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). Patients usually present at least three of these five main clinical features. 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.

How is CREST syndrome treated?

Unfortunately, CREST syndrome has no known cure. The condition carries both physical and psychological consequences, so a holistic approach to management should be taken.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 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 intralesional
  • Probenecid
  • Diltiazem
  • Warfarin
  • Aluminum hydroxide
  • Bisphosphonate
  • Minocycline
  • Colchicine
  • Intravenous immunoglobulin therapy to be unreliable.

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

  • Reduce and remove risk factors and triggers. Stop smoking, avoid beta-blockers, and avoid any remediable underlying cause (eg, use of vibratory equipment).
  • Teach hand and body warming activities.
  • Giver long-acting formulations of calcium channel blockers.
  • Add topical nitroglycerin paste to this regimen if needed.

Esophageal dysmotility: The treatment of esophageal dysmotility and gastroesophageal reflux in scleroderma patients is the same as in patients without scleroderma. Treatment involves behavior changes, H2 blockers, and esophageal dilatation in more severe cases. Esophageal dilatation can help when significant dysphagia or regurgitation occur in the presence of an esophageal stricture.

Sclerodactyly: Treatments include corticosteroids, nonsteroidal anti-inflammatory drugs, D-penicillamine, IFN-gamma, cyclosporine, and cytostatic drugs. Skin involvement in limited scleroderma typically is not severe; therefore, attempts are not usually made to treat skin involvement.

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

To prevent loss of mobility, stretching exercises for the finger joints are important. A physical therapist can also show affected individuals some facial exercises that may help keep the face and mouth flexible. 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.

Depression affects approximately 45% of patients with systemic sclerosis and 64% also develop anxiety, so early assessment and treatment of these psychological issues is recommended.

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 digital ulcers in individuals with systemic scleroderma.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage CREST syndrome?

The following lifestyles and home remedies might help you cope with CREST syndrome:

  • To reduce Raynaud’s symptoms, individuals may consider wearing gloves or mittens outdoors when the weather is cool, and indoors when reaching into the freezer.
  • To maintain the body’s core temperature, individuals may dress in layers and wear a hat or scarf, thermal socks, and well-fitting boots or shoes that don’t cut off  the circulation.
  • Individuals who smoke should talk to their doctor about the best ways to quit. Nicotine constricts the blood vessels, making Raynaud’s phenomenon worse.
  • Individuals who have difficulty swallowing may consider choosing soft, moist foods and chewing food well.
  • To minimize acid reflux individuals may eat small, frequent meals; avoid spicy or fatty foods, chocolate, caffeine, and alcohol; and avoid exercising immediately before or after eating. Sitting upright for a couple of hours after a meal may also help.
  • To help keep skin soft, individuals may avoid harsh soaps and detergents, while choosing gentle skin cleansers and bath gels with added moisturizers. Individuals may also consider bathing less frequently and taking brief baths and showers, using warm rather than hot water. Moisture levels in the home may be improved by using a humidifier to ease skin and breathing symptoms.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: November 1, 2017 | Last Modified: November 1, 2017

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.