What Is CREST Syndrome?

CREST syndrome is a complicated disease that affects several parts of the body. It can cause the thickening and/or hardening of the skin and internal organs. CREST is the acronym used to describe a number of conditions within the category of systemic sclerosis (scleroderma). These diseases include:

• Calcinosis: Calcium deposits form on skin.
• Raynaud's phenomemon: 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 swelling of the small blood vessels in those areas.

CREST syndrome is also called 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.

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
• Gastrointestinal tract
• 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 systemic sclerosis 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 swelling
• Itchy skin
• Discoloration of the skin
• Hair loss
• Skin dryness or hardening
• Ulcers or wounds over joints
• Arthritis
• Fatigue
• Joint pain
• Contractures
• Difficulty swallowing
• Heartburn
• Cough that follows swallowing
• Voice hoarseness
• Bloating
• Constipation or diarrhea
• Fecal incontinence
• Bowel obstructions
• Shortness of breath
• Heart disease
• Kidney dysfunction and urinary system changes
• Neuropathies
• Erectile dysfunction

Systemic scleroderma, or the diseases included in CREST syndrome, are most common in females and in people of African-American descent.

Causes

The exact cause of CREST Syndrome or any of the disorders within this family of diseases is unknown. There is evidence that there are genetic or familial links, with clusters of these diseases present in some families. It's believed in these cases to develop as an autoimmune disease.

Not all cases are inherited, though. There are also a number of viruses or environmental factors that have been linked to the development of diseases in the sclerosis family. These include:

• Cytomegalovirus (CMV)
• Epstein-Barr virus (EBV)
• Parvovirus B19
• Silica dust exposure
• Exposure to various organic solvents and chemicals
• Cigarette smoking and other drug use

Diagnosis

Diagnosis of CREST syndrome can be complicated, and may come over time after diagnosis or a number of the conditions associated with the syndrome. A physical assessment by your doctor is the first step. Your doctor 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 nailbeds
• White bumps on the skin that signals the accumulation of calicum, known as calcinosis cutis
• Pain and air accumulation under the skin, also known as crepitus—particularly over joints.

If your doctor 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) with differential to indicate 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
• Anticentomere (ACA) antibody
• Anti-RNA polymerase III antibody
• Pulmonary function testing
• Imaging studies like a computerized tomography (CT) scan or chest X-ray
• Doppler echocardiography

Treatment

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

Your doctor may prescribe you immunosuppressant medications or steroids to help control the progression of the disease or limit flare-ups.

Symptom management is a big part of treating CREST Syndrome. This will look different depending on which area of involvement is causing symptoms. For example, with Reynaud's, you may have to make lifestyle changes such as quitting smoking, or avoiding cold temperatures or reducing stress.

When the esophagus or gastrointestinal tract is involved, laxatives may help relieve constipation, or your doctor may prescribe you medication to manage heartburn.

Ask your doctor 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. The leading cause of mortality in CREST is pulmonary hypertension. Monitoring for this condition via echocardiogram and pulmonary function testing is recommended.

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. Focus on maintaining a healthy diet and lifestyle, and develop a close relationship with your physician to help keep your sclerosis from progressing to organ failure.