CREST Syndrome

Information on the causes, symptoms, and treatments of this connective tissue disease.

Symptoms and Causes

CREST syndrome is a type of limited scleroderma, an autoimmune disorder affecting connective tissue that can damage blood vessels, skin, muscles, and internal organs. This variant of scleroderma, a disease in which organs harden due to increased connective tissue, is named after the acronym formed by the initials of its main symptoms in English: Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasias.

The prognosis for CREST syndrome is favorable, significantly better than for other forms of scleroderma. This rare disease, accounting for approximately 20% of diagnosed scleroderma cases, usually allows a normal life expectancy, with a 10-year survival rate of 90%. With appropriate treatment, most patients maintain a high quality of life.

Symptoms

The symptoms of CREST syndrome include:

Calcinosis: calcium deposits in the skin, typically on the fingertips. They are usually painless but can cause discomfort and limit mobility if near a joint.
Raynaud’s phenomenon: abnormal reaction to cold temperatures or emotional stress. Blood vessels constrict, reducing blood flow to the skin.
Esophageal dysmotility: damage to the esophageal muscles, limiting the ability to swallow. This condition may lead to regurgitation and acid reflux.
Sclerodactyly: skin on the fingers and toes becomes tight and hardened. In early stages, the skin appears swollen and shiny. As the disease progresses, it becomes rigid and restricts normal finger movement.
Telangiectasias: small blood vessels dilate and become visible through the skin, appearing as fine lines or red dots on the face, hands, or oral mucosa.

Causes

The exact causes of CREST syndrome are unknown, but it is believed to result from a combination of genetic and environmental factors. Studies associate the following with scleroderma:

HLA genes (human leukocyte antigens): part of the immune system, helping distinguish self from non-self cells.
Other genes involved in immune system regulation.
Viral or bacterial infections.
Exposure to chemicals.

Risk Factors

Key risk factors for CREST syndrome include:

Sex: more common in women.
Age: typically appears between 40 and 65 years (middle age).
Race: more prevalent in individuals of European descent.

Complications

Major complications of CREST syndrome include:

Pulmonary arterial hypertension: the most common complication. A severe disease in which the arteries in the lungs thicken and narrow, causing the heart to work harder, potentially leading to right heart failure.
Interstitial lung disease: less common. An inflammatory condition causing fibrosis in lung tissue, which impairs oxygen exchange and may lead to respiratory failure over time.
Gastroesophageal reflux disease: chronic reflux of stomach contents into the esophagus, causing chest pain, difficulty swallowing, or respiratory problems.
Barrett’s esophagus: excess stomach acid alters the esophageal lining, increasing the risk of developing cancerous cells.
Intestinal problems: altered intestinal motility can cause bloating, constipation, or diarrhea.
Skin ulcers: calcium deposits that breach the skin form slow-healing sores.
Finger gangrene: significantly reduced blood flow can lead to tissue necrosis.
Reduced finger functionality.

Prevention

CREST syndrome cannot be prevented, as the exact causes remain unknown.

Recommendations

Use gloves, hats, boots, thermal socks, even indoors or when handling cold/frozen foods, to reduce Raynaud’s phenomenon symptoms.
Avoid smoking.
Intensive hydration: daily moisturizers and emollient creams for dry, stiff skin.
Sun protection.
Small, frequent meals; avoid fatty, spicy foods, caffeine, chocolate, and alcohol to prevent acid reflux.
Reduce stress, which exacerbates symptoms.

Which Specialist Treats CREST Syndrome?

CREST syndrome is primarily managed in Rheumatology, though other specialists may participate in diagnosis and therapy, including Medical-surgical dermatology and Venereology, Pulmonology, and Physical medicine and Rehabilitation.

Diagnosis

Diagnosing CREST syndrome is challenging due to symptom variability among patients and similarity to other autoimmune diseases. Specialists typically perform the following tests:

Medical history: detailed collection of patient background and reported symptoms.
Physical examination: observation of disease indicators:

Calcinosis: palpation and inspection to detect calcium deposits under the skin, especially on the fingers.
Raynaud’s phenomenon: observation of color changes in fingers in cold environments.
Sclerodactyly: assessment of finger skin characteristics and mobility.
Telangiectasias: visual inspection to detect reddened areas.

Blood tests: detect antibodies characteristic of autoimmune diseases (antinuclear antibodies and anticentromere antibodies) and exclude other conditions.
X-rays: imaging of internal structures, commonly performed on:

Bones: to detect calcium deposits not palpable or visible on the skin.
Chest: to assess lung structure and function.

Pulmonary function tests: assess lung health through various examinations:

Spirometry: patient exhales into a device measuring air expelled and flow rate.
Pulmonary plethysmography: patient in a sealed chamber breathes into a mouthpiece to measure total lung volume.
Diffusing capacity test: after inhaling carbon monoxide, patient holds breath and exhales fully to assess gas exchange efficiency between lungs and blood.
Radiological and barium studies: evaluate esophageal motility.

Skin biopsy: sample observed microscopically to confirm fibrosis and differentiate causes of skin thickening.
Echocardiography: ultrasound probe on the chest to assess heart size, structure, and function.

Treatment

CREST syndrome has no cure; treatment focuses on symptom relief and complication prevention. Therapies are personalized to optimize outcomes. Effective approaches include:

Analgesics and anti-inflammatory medications to reduce pain and swelling.
Medication to control high blood pressure. The most commonly used are diuretics, beta-blockers, alpha-blockers, or calcium channel blockers.
Immunosuppressive therapy to reduce inflammation and immune activity, including methotrexate, cyclophosphamide, or azathioprine.
Topical agents with urea or lactic acid to reduce skin thickness and soften tissue.
Cleaning and debridement of skin ulcers; antibiotics if infection is present.
Physiotherapy for mobility recovery; exercises and manual therapy restore muscle strength and flexibility.
Occupational therapy to support adaptation to functional changes.