CREST syndrome, or limited systemic sclerosis, is a rare autoimmune disease that causes changes and scarring of the body’s blood vessels and connective tissues.

The acronym CREST stands for the main traits of the condition, including: 

• Calcinosis: Calcium deposits form hard lumps under the skin
• Raynaud’s phenomenon: A condition where blood vessels narrow in response to cold or stress, causing fingers and toes to become cold, numb, and change in color 
• Esophageal dysfunction: Esophageal motility (movement) problems lead to acid reflux, heartburn, and chest pain 
• Sclerodactyly: Thickening and hardening of the skin on the fingers and hands
• Telangiectasia: Dilation of capillaries (small blood vessels) causes tiny red marks on the skin

CREST syndrome is a systemic condition that causes connective tissues to harden and tighten throughout your body. It can affect many body systems and organs.

CREST syndrome is a progressive disease that progresses slowly, with symptoms developing over several years. It can affect internal organs and other body systems as it progresses, but this happens less frequently than with other forms of systemic scleroderma.

Skin Symptoms 

Skin changes are an early sign of CREST syndrome. These changes can affect both the appearance and texture of your skin. Symptoms include:

• Sclerodactyly, which is thick, tight skin on the hands, fingers, feet, and toes
• Calcinosis, when calcium deposits (hard lumps) form under the skin around the knees, elbows, and face
• Skin ulcers (open wounds) forming over calcium deposits 
• Telangiectasia, small red spots on the skin of the face and hands
• Raynaud’s phenomenon, skin color changes in the fingers and toes (white, blue, or red) from exposure to cold or stress
• Raynaud’s, causing numbness, coldness, or tingling in the fingers and toes due to stress or cold temperatures
• Skin tightening over the face and joints (e.g., knees, elbows) 
• Claw-like hand deformities from skin tightening 

Joint Symptoms 

CREST syndrome can affect the connective tissues of the joints, causing: 

• Joint pain, especially in the hands, knees, and elbows 
• Joint stiffness 
• Limited range of motion (difficulty moving affected joints) 

Gastrointestinal Symptoms 

CREST syndrome can cause changes to the blood vessels, reducing blood flow to the nerves controlling the gastrointestinal (GI) system. This weakens the muscles that slow your digestion. Changes usually begin in the esophagus (food pipe) and stomach, eventually progressing to the small and large intestines.

Common GI symptoms of CREST syndrome include:

CREST syndrome is an autoimmune condition in which the immune system mistakenly attacks the body’s tissues and organs. The cause of this abnormal immune response is not yet known, but early research suggests a combination of genetic and environmental factors. 

With CREST syndrome, the immune system injures cells that line your blood vessels, causing your fibroblasts (connective tissue cells) to produce too much collagen (a structural protein). This buildup causes fibrosis (scarring) in your body’s connective tissues and blood vessels, leading to symptoms.

Mutations (changes) in specific genes can increase your likelihood of developing CREST syndrome and other autoimmune conditions. Environmental factors that may trigger the onset of CREST syndrome and scleroderma-like disorders include: 

• Viral infections, including cytomegalovirus (CMV), Epstein-Barr virus, and parvovirus B19
• Exposure to toxic substances, including silica dust, polyvinyl chloride, and xylene 
• Exposure to contaminated rapeseed cooking oil, which can lead to toxic oil syndrome
• Using certain drugs, including bleomycin (a cancer drug) and cocaine

Risk Factors

Several factors are associated with an increased risk of developing CREST syndrome, including:

• Age: CREST syndrome symptoms most commonly develop during ages 25-55.
• Sex assigned at birth: People assigned female at birth (AFAB) are four times more likely to develop CREST syndrome than people assigned male at birth (AMAB). 
• Ethnicity: Native Americans and people of African descent are more likely to have CREST syndrome and experience more severe forms than white people. 
• Autoimmune diseases: People with other autoimmune disorders, such as rheumatoid arthritis, may have a higher risk. 

Diagnosing CREST syndrome can be complex because it often affects multiple body systems and has similar symptoms to other autoimmune conditions. Your healthcare provider will review your medical history and perform a physical examination.

During the exam, they look for the early signs of CREST syndrome, including: 

• Thickened skin on the fingers and hands
• Ulcers or scars on the fingertips 
• Red spots on the face and hands
• Calcium deposits (white bumps under the skin) 
• Pitting around the fingernails

Your healthcare provider may order diagnostic tests to confirm your diagnosis and rule out other conditions. These include:

• Complete blood count (CBC) and metabolic panel: These blood tests measure the amount of blood cells you have. They also assess how well your liver and kidneys are working.
• Antinuclear antibody (ANA) test: This blood test detects antibodies in the blood of people with CREST syndrome and other autoimmune conditions. 
• Anticentromere antibody (ACA) test: This blood test checks for an antibody associated with CREST syndrome.
• Pulmonary function tests: Pulmonary (lung) function tests, such as spirometry and a six-minute walking test, can assess your lung function. This helps check for common complications such as pulmonary arterial hypertension (high blood pressure in the lungs’ arteries).
• Imaging scans: X-rays, computed tomography (CT) scans, and magnetic resonance imaging (MRI) scans allow healthcare providers to see your internal organs and connective tissues to look for organ damage or scarring. 
• Nailfold capillaroscopy: This noninvasive test uses a microscope to examine the small blood vessels near your fingernails. It helps identify abnormalities associated with CREST syndrome.
• Endoscopy: This test involves inserting a long, flexible tube called an endoscope down your throat to see your esophagus and stomach. It can help your provider identify inflammation or damage to your esophagus, which is common in CREST syndrome. 

The primary goal of CREST syndrome treatment is to manage symptoms, improve quality of life, and prevent complications.

While there is no cure or specific treatment for CREST syndrome, some treatment approaches can help relieve your symptoms and avoid organ damage. Your healthcare provider will develop a treatment plan based on your symptoms. 

Medications

Based on your symptoms, your medications may include:

• Immunosuppressants: Help reduce your immune system activity, control symptoms, and slow disease progression 
• Corticosteroids: Anti-inflammatory drugs that can help lower inflammation and relieve pain 
• Vasodilators: Help improve blood flow and relieve symptoms associated with Raynaud’s phenomenon, such as coldness and numbness in the fingers and toes 
• Proton pump inhibitors: Treat acid reflux and reduce symptoms of esophageal dysfunction 

Physical Therapy 

Physical therapy for CREST syndrome focuses on improving mobility, strength, and function in your hands, feet, and affected joints. Techniques may include range-of-motion exercises to reduce joint stiffness, strengthening exercises to maintain muscle mass and strength, and cardiovascular exercises to improve lung function. 

Physical therapists can also guide you using assistive devices to help you maintain your independence and quality of life. 

We do not yet know how to prevent CREST syndrome. However, certain lifestyle habits can control symptoms and help you maintain a good quality of life while living with CREST syndrome. Your healthcare provider may recommend:

• Avoid smoking: If you smoke, quitting can help improve circulation and reduce symptoms of Raynaud’s phenomenon, including cold and numb fingers and toes.
• Avoid cold exposure: Wear gloves and warm socks in cold weather to prevent Raynaud’s symptoms. 
• Skin protection: Skin care practices like wearing sunscreen and keeping your skin well-moisturized can help prevent skin injury and damage.
• Dietary changes: Aim to eat a balanced diet with plenty of nutrient-rich fruits, vegetables, whole grains, and lean proteins to help maintain your overall health and reduce digestive symptoms. Eating smaller meals throughout the day and avoiding eating before lying down can help reduce acid reflux and heartburn. 
• Regular exercise: Regular physical activity can improve joint mobility and muscle strength.

People with CREST syndrome have a higher risk of developing other autoimmune conditions, likely due to underlying immune system dysfunction. These conditions include: 

• Rheumatoid arthritis (RA): RA is a chronic inflammatory disorder affecting the joints. It often coexists with CREST syndrome due to similar immune system dysfunction.
• Sjogren’s syndrome: About 20% of people with CREST syndrome develop Sjogren’s syndrome, an autoimmune disease that causes dry eyes and mouth. 
• Pulmonary hypertension: High blood pressure in the lungs’ arteries can develop with CREST syndrome, causing the arteries to stiffen. This leads to symptoms like shortness of breath, chest pain, dizziness, and fatigue.
• Interstitial lung disease: Some people with CREST syndrome may develop lung complications, such as interstitial lung disease, which causes inflammation and scarring of the lung tissue.
• Heart arrhythmia: When CREST syndrome affects the heart tissues, arrhythmias (irregular heartbeat) can develop and increase the risk of heart failure.

Coping with a chronic condition like CREST syndrome can be challenging and affect your daily activities and quality of life. Fortunately, there are treatments to help manage your symptoms, slow disease progression, and prevent organ damage. 

Living well with CREST syndrome involves following your treatment plan and practicing healthy lifestyle habits, such as caring for your skin and maintaining regular appointments with your healthcare provider.

Talk to a healthcare provider if you suspect you have symptoms of CREST syndrome. Early diagnosis and treatment can help you maintain your quality of life.