CREST syndrome is the name given to a particular form of systemic scleroderma. It is one of the autoimmune diseases.
What is CREST syndrome?
CREST syndrome is a collagenosis. It is considered a specific form of progressive systemic scleroderma. The autoimmune disorder is also known as Thibierge-Weissenbach syndrome or limited systemic scleroderma. The term CREST is used as an abbreviation for calcinosis cutis, a skin calcification; Raynaud’s syndrome; esophageal dysfunction, which is a dysfunction of the esophagus; sclerodactyly (hairless hardened fingers); and telangiectasia, in which the superficial skin vessels dilate abnormally. CREST syndrome is a locally occurring form of scleroderma, which is limited to the mentioned manifestations. In this case, the internal organs change and the skin of the affected persons thickens. However, due to the local limitation, the course of this form of scleroderma is relatively milder.
Causes
The reasons for the development of CREST syndrome have not yet been clarified. Genetic factors and environmental toxins that trigger the disease are under discussion as possible causes of the autoimmune disease. In about 70 percent of all patients, antibodies directed against the centromeres can be detected. These are known as anticentromere antibodies. They represent a subtype of antinuclear antibodies.
Symptoms, complaints, and signs
CREST syndrome is characterized by five leading symptoms: one is calcinosis cutis. This involves calcium deposits that appear on the skin. They occur primarily on parts of the body that are farther from the trunk, such as the fingers. Although it is possible to have these deposits removed by surgery, CREST syndrome also involves circulatory problems, increasing the risk of infection and wound healing problems. Even life-threatening complications are within the realm of possibility. Another leading symptom of CREST syndrome is Raynaud’s syndrome. It is characterized by white discoloration of individual fingers or parts of fingers or even the entire hand. Often, the discoloration appears even in mild cold. Raynaud’s attacks are therefore more frequent in the winter months than in the summer. However, an attack can already be triggered by the contact of the fingers with a deep freezer. The reason for Raynaud’s attacks is vascular spasms such as in the arteries. In the further course of CREST syndrome, there is a risk of permanent arterial constriction, which results in severe circulatory disorders. This in turn threatens tissue death. The English term esophagus stands for the esophagus. In esophageal dysfunction, the connective tissue hardens, which in turn causes movement disorders in the esophagus. As a rule, the patient does not even notice these disorders. In the advanced stage, however, swallowing disorders are imminent. Another prominent symptom of CREST syndrome is sclerodactyly. The connective tissue changes. The connective tissue hardens and loses elasticity. The skin on the fingers hardens and becomes tighter, so that it tightens around the bones. In addition, the formation of open skin areas is possible, the healing of which progresses only slowly. The fifth and last leading symptom of CREST syndrome is telangiectasia. This refers to small dilations of tiny blood vessels located far from the aorta. They become noticeable as visible veins on the skin, which are most prominent on the face and fingers.
Diagnosis and course
An important role in the diagnosis of CREST syndrome is played by the patient’s medical history (anamnesis), which is taken by the attending physician. In addition, a physical examination takes place. Sclerodactyly and telangiectasia provide important clues to the disease. If the physician is also familiar with Raynaud’s syndrome, it is not difficult for him to make the diagnosis. To confirm the findings, special laboratory tests are also performed to detect centromere antibodies. For this purpose, an immunofluorescence examination is performed. Thus, the antinuclear antibodies (ANA) show a typical fluorescence pattern. The course of CREST syndrome is difficult to assess.However, the disease is usually less severe than scleroderma.
Complications
As a result of CREST syndrome, there are primarily severe disturbances in blood flow. This can affect different regions of the body. In most cases, simplified infections can also occur at these sites, and the affected person also continues to suffer from so-called wound healing disorders. The wounds can become inflamed and heal only very slowly. If the circulatory disorders persist over a longer period of time at the same site, the tissue may die off in the worst case. This results in paralysis and severe movement restrictions. Swallowing disorders also occur. Patients complain of visible veins on the skin and especially on the face, which can have a negative effect on the patient’s aesthetic appearance. As the disease progresses, inflammation of the joints may also occur. Treatment is carried out with the help of medications and does not lead to further complications. However, the course of the disease is not positive in every case and cannot be universally predicted. Complications occur when there is damage to the internal organs. Due to this damage, the patient may also die in the worst case.
When should you see a doctor?
Since there is no self-healing in CREST syndrome, a doctor must definitely be consulted for this disease. Especially if there is an increased distance between the extremities and the trunk of the body, a medical examination should be performed. Likewise, disturbances in blood circulation or wound healing may indicate this disease and must also be examined by a medical professional. The earlier the disease is diagnosed, the higher the chances of complete recovery. Swallowing disorders or narrowing of the arteries may also be symptoms of CREST syndrome, which must also be examined. Furthermore, a doctor should be consulted if there are visible small veins on the skin, usually on the fingers or directly on the face. In most cases, CREST syndrome can be diagnosed and treated by a general practitioner. Other complaints, such as inflammation of the joints, are treated by respective specialists. However, a complete cure is not possible in every case.
Treatment and therapy
For an effective treatment of CREST syndrome, a lot of experience by the physician is necessary. For this reason, therapy by a specialist is recommended. Sufficient experience is usually possessed by physicians in internal rheumatology or clinical immunology. As a rule, a dermatologist is consulted first, since skin complaints appear at the beginning of the disease. Sometimes a combined treatment by specialists from different fields may be necessary. One part of the therapy is the treatment of the symptoms. This includes the administration of medications such as cortisone-free anti-inflammatory drugs. They are administered to treat painful inflammation of the joints. In addition, special drugs are used to promote blood circulation, and infusion therapy is also possible. If there is clear autoimmune activity of CREST syndrome, disease-modified therapeutic approaches are considered useful. In this case, the patient is administered the antirheumatic drug methotrexate, which has a positive effect. In some cases, it is even possible to bring the disease to a complete standstill. However, it is important to start the disease-modified therapy as early as possible. In addition, there should not yet be any major damage to the organs.
Outlook and prognosis
In CREST syndrome, patients rely on treatment by a variety of physicians. Generally, the disease cannot be completely treated, so affected individuals will always be dependent on therapy throughout their lives. The treatment can be carried out by surgical interventions and by taking medication. However, it is not possible to make a general prediction about the further course of the disease, as this depends strongly on the severity of the CREST syndrome. Only in very few cases can the disease be completely limited. The therapy depends mainly on the preservation of the organs. If no treatment is initiated in CREST syndrome, the affected person suffers damage to the organs and usually dies as a result.Inflammation of the joints and a very weakened immune system also continue to occur. Even with successful treatment, discomfort can occur at the joints, so that patients are dependent on various exercises and therapies to promote their mobility. They are therefore usually also dependent on the help of other people in their daily lives. No general prediction can be made about life expectancy in CREST syndrome either. Early diagnosis and therapy always have a positive effect on the further course of the disease.
Prevention
There is no known effective prevention of CREST syndrome. However, if the disease is present, it is recommended to protect the affected parts of the body from cold and to perform physiotherapy exercises to maintain joint mobility.
Aftercare
An autoimmune disease such as CREST syndrome usually persists throughout life. Causative therapy is not possible, so treatment focuses on the individual symptoms. Affected individuals must consult their physician regularly after initial treatment is completed. Further treatment of the immune disorders as well as any calcifications or hardenings can take several years or even decades, depending on the severity of the disease. The patient must undergo medical examinations once or twice a month so that the course of the disease can be checked. Later, the cycle may be reduced to semi-annual or annual examinations. Accompanying routine examinations are necessary, especially in elderly and severely ill people. Patients suffering from CREST syndrome are best advised to discuss follow-up measures with their physician at an early stage. Often, the emotional stress associated with a prolonged illness can be significantly reduced through good planning. The doctor will sometimes involve other physicians and therapists for follow-up care, always depending on the type and severity of the symptoms and complaints. If the course is positive, the regular follow-up checks and any accompanying measures (physiotherapy, psychological discussions) can be gradually reduced.
What you can do yourself
Patients suffering from CREST syndrome usually require comprehensive medical treatment. Medical therapy can be supported by some measures. Individual symptoms such as the typical circulatory disturbance can be reduced by changing the diet. Soothing herbal teas, but also classic home remedies such as warm milk, help against swallowing difficulties. If joint inflammation occurs, the affected body part must be spared. Especially in the acute phase of the disease, the sufferer should refrain from physically strenuous activities and, if necessary, use aids such as crutches. If this has no effect, the medication must be changed. In general, optimally adjusted medication is an important factor in the treatment of CREST syndrome. It is therefore best for the patient to keep a diary in which he or she notes the symptoms, as well as any side effects and interactions. Accompanying this, it can be useful to carry out physiotherapy. Under the guidance of an expert, exercises can be completed that reduce pain and often also counteract the circulatory problems. Accompanying these measures, close monitoring by a specialist is always necessary. If CREST syndrome progresses positively, everyday life can be resumed after a few weeks to months.
