What Is CREST Syndrome?

CREST syndrome is a connective tissue disorder and a limited form of systemic sclerosis. CREST is the acronym for its clinical features: calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia.

Each of these conditions leads to different symptoms in CREST:

• Calcinosis: Calcium deposits form on skin.
• Raynaud’s phenomenon: Hands and feet have an abnormal response to cold temperatures or anxiety. Blood vessels narrow when you are cold or stressed, turning fingers and toes white or blue before blood flow is restored and they return to a normal color.
• Esophageal dysmotility: The smooth muscles that line the esophagus lose normal movement and function.
• Sclerodactyly: Extra collagen deposits on the skin on your hands. The result is thick, tight skin on the fingers.
• Telangiectasia: Tiny red spots on your hands and face caused by dilated or broken small blood vessels in those areas.

CREST syndrome affects different systems in the body and can therefore cause a variety of symptoms. Often, it causes thickening and/or hardening of the skin and internal organs.

Other names for CREST syndrome are limited cutaneous systemic sclerosis or limited scleroderma.

Scleroderma can appear as a localized issue affecting only small areas of the body at a time (known as linear scleroderma or morphea), or as a systemic problem affecting the entire body. This rare connective tissue disease becomes more serious as it progresses to systemic disease.

This article explains how CREST syndrome affects the body, and the symptoms, causes, diagnosis, and treatment options for CREST.

Affected Systems

Systemic sclerosis affects a number of body systems—not just one area. CREST syndrome is an umbrella term combining a number of specific conditions related to scleroderma, each affecting different parts of the body. The body systems most commonly affected by scleroderma are:

• Skin (limited to the upper limbs, and less often the lower limbs)
• Esophagus
• Lungs
• Kidneys
• Skeletal muscles
• Pericardium

Within these systems, connective tissues are the specific areas affected. For skin, this will appear as a visible thickening or hardening. For other organs, the effect can be more difficult to see. In short, systemic sclerosis causes the lining, or “skin” of organs to harden and not function well.

This dysfunction can cause major problems, such as in the esophagus, where the smooth muscles that line the organ don’t contract and move food effectively.

Symptoms of CREST Syndrome

Symptoms of CREST can vary based on the body system being affected. With CREST syndrome, five specific diseases are included which impact the skin, hands, feet, esophagus, and connective tissues of other internal organs. Depending on the body part affected, symptoms can include:

• Skin dryness or hardening
• Discoloration of the skin
• Joint pain
• Fatigue
• Difficulty swallowing
  
• Heartburn
  
• Persistent cough
• Shortness of breath
• Heart disease
• Kidney dysfunction
• Skin swelling
• Itchy skin
• Arthritis
• Ulcers or wounds on fingertips or toes
• Contractures
  
• Hair loss
• Voice hoarseness
  
• Constipation or diarrhea
• Fecal incontinence
• Intestinal pseudo-obstruction
• Neuropathies
• Bloating
  
• Urinary system changes
  
• Erectile dysfunction

Causes

All forms of systemic sclerosis are autoimmune and likely have both genetic and environmental triggers, the latter of which could include infection. A genetic predisposition to this can be inherited or happen spontaneously.

Viruses or environmental factors that have been linked to developing diseases in the sclerosis family include:

• Cytomegalovirus (CMV)
• Epstein-Barr virus (EBV)
• Parvovirus B19
• Silica dust exposure
• Exposure to various organic solvents and other chemicals
• Use of tobacco and other drugs
• Some medications

Diagnosis

CREST syndrome diagnosis can be complicated. It may come over time after diagnosis of a number of the conditions associated with the syndrome.

The first step is for your healthcare provider to do a physical assessment. They may suspect CREST syndrome if they see:

• Puffy or swollen fingers
• Thickening skin on the hands, feet, face, or arms
• Tightening of the skin around the mouth
• Pitting in the skin on your fingertips, or wounds around your nail beds
• White bumps on the skin that signals the accumulation of calcium, known as calcinosis cutis
• Pain and air accumulation under the skin, also known as crepitus—particularly over joints

If your healthcare provider suspects you have one or more of the diseases in the sclerosis family, or all the elements of CREST syndrome, they will probably send you for additional lab testing and procedures. These tests include:

• Complete blood count (CBC) to check for anemia or other dysfunction from malabsorption of nutrients related to decreased function in connective tissues
• Serum creatinine to measure kidney function
• Creatinine kinase to measure the involvement of muscles
• Urinalysis
• Antinuclear antibody (ANA) testing
• Antitopoisomerase I (anti-Scl-70) antibody
• Anticentromere (ACA) antibody
• Anti-RNA polymerase III antibody
• Pulmonary function testing
• Electromyography (EMG) and nerve conduction studies
• Imaging studies such as magnetic resonance imaging (MRI), computed tomography (CT), and X-rays
• Doppler echocardiography

Treatment

Treating CREST syndrome is complicated because the disease process affects each part of the body differently. Also, different organs require different management. There is no universal treatment for the conditions included in CREST syndrome, but early diagnosis is helpful.

Some treatment options include:

• Immunosuppressants: Your healthcare provider may prescribe you immunosuppressant medications or steroids to help control the progression of the disease or limit flare-ups.
• Vasodilators: These can help treat Raynaud’s and also prevent damage to the lungs and kidneys.
• Symptom management: This will look different depending on which area of involvement is causing symptoms. For example, with Raynaud’s, you may have to make lifestyle changes such as quitting smoking, avoiding cold temperatures, or reducing stress.
• Laxatives or heartburn medication: When the esophagus or gastrointestinal tract are involved, laxatives may help relieve constipation. In addition, your healthcare provider may prescribe you medication to manage heartburn.

Ask your healthcare provider for specific advice to manage your particular symptoms. A healthy diet and exercise regimen may also help keep CREST Syndrome under control.

Prognosis

While limited sclerosis may cause pain or inconvenience, systemic sclerosis diseases like those in CREST syndrome are associated with a higher mortality rate.

Effects on the heart and lungs are major causes of mortality in CREST. If you have CREST, your healthcare provider should carefully monitor your condition with an echocardiogram and pulmonary function testing.

Prognosis for patients with severe sclerosis has improved over the last several decades, thanks to improved management of organ failure.

A Word From Verywell

CREST syndrome is a term used to describe a number of diseases in the sclerosis family. Skin thickening, hardening, or swelling is usually a hallmark of these diseases, and one of the first noticeable symptoms.

If you have CREST, focus on maintaining a healthy diet and lifestyle. Developing a close relationship with your healthcare provider may help keep your sclerosis from progressing to organ failure.