What Are the Symptoms of CREST Syndrome?

Telangiectasias are a sign of CREST syndrome.

CREST (an acronym for calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome, also called limited scleroderma, is a connective tissue disease that can involve many parts of the body, usually the skin of the forearms, lower legs, face, and neck, as well as the digestive tract, heart, lungs, and kidneys.

Signs and symptoms of CREST syndrome (limited scleroderma) include the following:

• Calcinosis, or calcium deposits in the connective tissues
  • Calcium deposits can be tender and painful.
  • Deposits may become ulcerated, have a white chalky substance drain from them, and secondary infection can occur.
  • There may be inflammation at the site of the calcinosis.
  • In rare cases, calcifications may occur near the spine, causing local pain, nerve pain (radiculopathy), and diffuse weakness.
• Raynaud's phenomenon affects the blood vessels in the hands and feet, causing them to turn white then blue and feel cold and go numb in response to cold temperatures, stress, and anxiety.
  • Over time, skin of the hands and feet thickens, and fingers become puffy.
• Esophageal dysfunction
  • Difficulty swallowing
  • Abnormal narrowing of esophagus (strictures)
  • Erosive esophagitis/Barrett's esophagitis
  • Symptoms of heartburn/gastroesophageal reflux disease (GERD)
• Sclerodactyly
  • First stage (edematous phase): puffy, swollen fingers and morning stiffness/joint pain in hands
  • Second stage (indurative phase): Thickened and tight skin develops on the fingers and toes, along with itching, redness may be present, skin looks tight and shiny, and skin creases disappear
  • Late stage (atrophic phase): Skin become fragile and occurs slowly, over many years.
  • Skin involvement usually remains in the forearms and lower legs but can also involve the face and neck.
• Telangiectasia
  • Small red spots on the hands, face, and upper trunk develop due to dilated tiny blood vessels.
  • Spots may also occur on mucosal surfaces such as the lips and throughout the gastrointestinal tract.
  • Spots may bleed.

Other symptoms of CREST syndrome include the following:

• Joint pain
• Muscle weakness
• Heart problems
• Pulmonary hypertension
  • Early symptoms include shortness of breath on exertion and cough.
• Heart problems (rare)
  • Symptoms include shortness of breath on exertion, fatigue, palpitations, irregular heartbeats (arrhythmia), and conduction abnormalities.
• Liver disease (primary biliary cirrhosis)
• Kidney problems (rare)
  • High blood pressure (hypertension), renal failure, and microangiopathic hemolytic anemia
• Nerve entrapment syndromes such as carpal tunnel syndrome
• Autonomic dysfunction of the gastrointestinal tract
• Sicca symptoms such as dry eyes, dry mouth, and arthritis
• Increased risk of cancer, particularly lung cancer

The cause of CREST syndrome (limited scleroderma) is unknown.

Risk factors for developing CREST syndrome include the following:

• Genetics
• Female gender
• Ethnicity: It affects blacks and native Americans more than whites.
• Environmental factors
  • Exposure to certain toxins such as polyvinyl chloride, benzene, silica, trichloroethylene, synthetic adhesives, solvents (including chlorinated solvents, aromatic solvents, white spirit, toluene, trichloroethylene, formaldehyde, vinyl chloride, and cleaning products)
  • L-tryptophan and rapeseed oil exposure
  • Certain occupations including female teachers, female textile workers, and construction workers
  • Use of vibrating tools

Tests used to diagnose CREST syndrome (limited scleroderma) include

• ANAs,
• anticentromere antibodies,
• serum calcium and phosphorus levels, and
• thyrotropin level.

Imaging studies used to diagnose CREST syndrome (limited scleroderma) include the following:

• Calcinosis
  • X-rays
  • Computed tomography (CT) scans
  • Bone scans (skeletal scintigraphy with diphosphate compounds)
  • Videodermatoscopy
• Raynaud phenomenon
  • Doppler ultrasound
  • Angiography
• Esophageal dysmotility
  • Radiologic barium studies with attention to the esophagus (cine-esophagram)
  • Fluoroscopy
  • Radionuclide scanning
  • Esophageal manometry
  • Twenty-four-hour pH monitoring
  • Esophagogastroduodenoscopy
  • Biopsy (for Barrett's esophagitis or adenocarcinoma)
• Cough or fatigue
  • Transthoracic echocardiography
  • Chest X-rays

Treatment for CREST syndrome (limited scleroderma) includes the following:

• Calcinosis
  • Simple surgical management, including curettage
  • Intralesional corticosteroid therapy
  • Probenecid
  • Low-dose warfarin (in selected patients with early or mild disease)
  • Aluminum hydroxide
  • Low-dose colchicine for local inflammation
• Raynaud's phenomenon
  • Use of good hand and body warming techniques to keep core body and hand temperature elevated
  • Stop smoking.
  • Calcium channel blockers
  • Topical nitroglycerin and topical glyceryl trinitrate
  • Prostaglandin E1, prostacyclin I2, and iloprost (a prostacyclin-I2 analogue) (not FDA approved for this use)
  • Intravenous infusions of prostacyclin I2 (epoprostenol) or prostaglandin E1 (alprostadil)
  • Oral or intravenous iloprost
• Esophageal dysmotility
  • Behavior changes such as weight loss, elevating the head of the bed, reducing intake of food and drink triggers (caffeine, alcohol, chocolate), quitting smoking, avoiding eating just before lying down, eating small meals
  • H2 blockers (e.g., ranitidine, famotidine, nizatidine)
  • Proton-pump inhibitors (if erosive esophagitis is present)
  • Motility-promoting agents such as cisapride
  • Esophageal dilatation
• Sclerodactyly
  • Corticosteroids, nonsteroidal anti-inflammatory drugs (NSAIDs), D-penicillamine, IFN-gamma, cyclosporine, and cytostatic drugs have been used with limited success in scleroderma.
  • Skin involvement is usually not severe so it may not need treatment.
• Telangiectasia
  • Pulsed-dye laser treatment for facial telangiectasia
  • Medical treatment with estrogen-progesterone or desmopressin, laser ablation, sclerotherapy for symptomatic gastrointestinal telangiectasia

Depression and anxiety affect a large number of patients so these issues may need treatment.

Complications of CREST syndrome (limited scleroderma) include

• renal (kidney) involvement and an
• increased risk of cancer, particularly lung cancer.

The survival rate for of CREST syndrome (limited scleroderma) from time of diagnosis is estimated to be as follows:

• 77.9% at 5 years
• 55.1% at 10 years
• 37.4% at 15 years
• 26.8% at 20 years

Limited skin disease is associated with a better survival rate than widespread disease.

Kidney involvement is associated in half of all scleroderma-related deaths with widespread skin disease. Death in patients with limited skin involvement usually results from heart, lung, and gastrointestinal causes.