CREST syndrome is a chronic connective tissue disorder recognized as a specific, limited subtype of systemic sclerosis (scleroderma). Systemic sclerosis involves the hardening and tightening of the skin and connective tissues. The limited form typically progresses more slowly and involves fewer internal organs than the diffuse type. CREST is an acronym used to remember the five primary clinical manifestations that define this presentation of the disease. These distinct physical signs and symptoms tend to occur together, though not every patient experiences all five features.
Understanding the Core Features of CREST Syndrome
The “C” in CREST stands for calcinosis, describing the formation of calcium deposits in the body’s soft tissues. These deposits manifest as hard, palpable nodules just under the skin, often around the joints of the fingers, elbows, and knees. While typically painless, these lumps can become inflamed, potentially leading to ulceration or chronic infection if the overlying skin breaks down.
The “R” represents Raynaud’s phenomenon, often the first symptom to appear. This condition involves an exaggerated spasm of the small blood vessels in the fingers and toes in response to cold temperatures or emotional stress. The digital arteries constrict dramatically, leading to a noticeable three-phase color change: white (pallor), blue (cyanosis), and finally red (hyperemia) as blood flow returns. Severe, repeated episodes of this vasospasm can lead to painful digital ulcers and, in rare instances, tissue loss.
Esophageal dysfunction is the “E” in the acronym, resulting from damage to the smooth muscles lining the lower two-thirds of the esophagus. This damage impairs peristalsis, the coordinated muscular contractions necessary to push food into the stomach. Patients commonly experience difficulty swallowing (dysphagia) and severe acid reflux due to the weakened lower esophageal sphincter muscle. The resulting acid exposure can cause inflammation and scarring (strictures) within the esophagus.
Sclerodactyly, the “S,” refers to localized skin thickening and tightening on the fingers and hands. This process is caused by the overproduction and accumulation of collagen fibers. The skin becomes taut and shiny, restricting finger movement and potentially leading to a claw-like contracture of the hands over time. This tightening is usually limited to areas distal to the elbows and knees, distinguishing it from the diffuse form of systemic sclerosis.
The “T” denotes telangiectasias, which are small, dilated blood vessels visible on the skin surface. These appear as tiny, bright red spots that blanch (temporarily turn white) when pressed. They are often seen on the face, lips, hands, and inside the mouth. Telangiectasias are a hallmark sign of the underlying vascular damage present in the condition.
Autoimmune Basis and Diagnostic Confirmation
CREST syndrome arises from an autoimmune process where the body’s immune system mistakenly attacks its own connective tissues. This leads to the activation of immune cells and the excessive production of collagen. The result is widespread fibrosis (scarring) of the skin and internal organs, alongside damage to small blood vessels. Diagnosis relies on clinical findings (the five CREST features) and specific laboratory tests. The most telling finding is the presence of anti-centromere antibodies (ACA) in the blood, detected in up to 95% of patients.
ACA targets the centromere, a specific chromosome region. Their presence helps distinguish CREST from the more aggressive diffuse systemic sclerosis, which is often associated with anti-topoisomerase I (anti-Scl-70). Providers typically order an Antinuclear Antibody (ANA) test; a positive result showing a distinct speckled pattern suggests ACA presence. Other diagnostic steps include physical examination to assess skin changes, nodules, or telangiectasias. Imaging studies, such as plain radiographs, confirm calcinosis by visualizing calcium deposits beneath the skin. Nailfold capillaroscopy, a non-invasive procedure, uses magnification to examine blood vessels at the base of the fingernail, confirming the systemic vascular involvement seen in Raynaud’s phenomenon.
Current Strategies for Symptom Management
Since there is no curative treatment for the underlying autoimmune dysfunction in CREST syndrome, management focuses on mitigating the symptoms of the five features and preventing complications. The approach involves a combination of medication and targeted lifestyle adjustments.
Treatment for Raynaud’s phenomenon aims to improve blood flow and reduce the frequency and severity of vasospasms. This often involves vasodilators, such as dihydropyridine-type calcium channel blockers like nifedipine, which relax small blood vessel walls. Patients are also advised to adopt lifestyle changes, including temperature regulation (wearing layers and gloves) and avoiding nicotine, which constricts blood vessels.
Esophageal dysfunction is managed primarily with medications that reduce stomach acid production. Proton pump inhibitors (PPIs) are commonly prescribed because they effectively block acid-producing cells, minimizing reflux symptoms. Behavioral modifications are also recommended, such as elevating the head of the bed during sleep and eating smaller, more frequent meals to reduce nighttime reflux and aid digestion.
Calcinosis Management
Managing calcinosis is challenging, with treatment options varying based on deposit severity. If calcium lumps become infected or cause significant pain and mobility issues, surgical removal may be necessary. Medications like diltiazem or colchicine have been explored to potentially slow formation or promote resorption of the deposits, though success is limited.
Sclerodactyly and Telangiectasias Management
Sclerodactyly and other skin manifestations are addressed through physical therapy to maintain hand mobility and flexibility, along with regular use of moisturizers to prevent cracking. Immunosuppressive drugs are sometimes used in patients with more aggressive disease features to slow the progression of fibrosis and limit further organ damage. Telangiectasias, which are mainly a cosmetic concern, can be treated with laser therapy to destroy the visible, dilated blood vessels.