CREST syndrome

Overview

CREST syndrome is a subtype of limited cutaneous systemic sclerosis (a form of scleroderma), an autoimmune connective tissue disease. The term "CREST" is an acronym that represents five characteristic features of the condition: Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia. It primarily affects the skin and internal organs and tends to progress more slowly and mildly compared to diffuse scleroderma. Though rare, CREST syndrome can lead to significant complications if not properly managed.

Causes

CREST syndrome is an autoimmune disorder, meaning the body's immune system mistakenly attacks its own tissues. The exact cause is unknown, but a combination of genetic, environmental, and immunological factors is believed to contribute. Key contributing elements include:

• Genetic predisposition: Family history may increase risk

• Environmental triggers: Exposure to certain chemicals, such as silica or organic solvents

• Immune system dysfunction: Abnormal immune activation leads to inflammation and excessive collagen deposition in tissues

Women are more commonly affected than men, and the syndrome typically begins between the ages of 30 and 60.

Symptoms

Each component of the CREST acronym represents a major feature of the syndrome:

• Calcinosis: Calcium deposits under the skin, often on fingers or joints, causing lumps and discomfort

• Raynaud’s phenomenon: Episodes of reduced blood flow to fingers and toes, causing them to turn white or blue in response to cold or stress

• Esophageal dysmotility: Difficulty swallowing or acid reflux due to weakened esophageal muscles

• Sclerodactyly: Thickening and tightening of the skin on the fingers and hands, leading to reduced mobility

• Telangiectasia: Small, dilated blood vessels visible on the face, lips, or hands

Additional symptoms may include fatigue, joint pain, shortness of breath, or involvement of internal organs such as the lungs and heart.

Diagnosis

Diagnosing CREST syndrome involves a combination of clinical evaluation, blood tests, and imaging. Diagnostic steps include:

• Physical examination: To identify hallmark features such as skin thickening or telangiectasia

• Blood tests: Detection of autoantibodies, especially anti-centromere antibodies (highly specific for CREST)

• Nailfold capillaroscopy: Examination of the small blood vessels near the fingernails for abnormalities

• Esophageal manometry or barium swallow: To assess esophageal function

• Imaging tests: X-rays or CT scans to detect calcinosis or pulmonary involvement

Treatment

There is no cure for CREST syndrome, but treatment focuses on symptom management and preventing complications. A multidisciplinary approach is often needed. Treatment options include:

• Calcium channel blockers: Such as nifedipine to manage Raynaud’s phenomenon

• Proton pump inhibitors: To reduce acid reflux and manage esophageal issues

• Immunosuppressive or anti-inflammatory medications: For joint or lung involvement

• Pain management: For calcinosis or joint discomfort

• Physical therapy: To maintain hand function and flexibility

• Surgical options: In rare cases, removal of calcium deposits or treatment for severe esophageal problems

Prognosis

The prognosis for individuals with CREST syndrome is generally better than for those with diffuse systemic sclerosis. Many patients live normal or near-normal lifespans with proper monitoring and treatment. However, complications such as pulmonary hypertension, digital ulcers, or gastrointestinal issues can impact quality of life. Early diagnosis and ongoing medical care are key to managing symptoms and minimizing long-term damage.