A special form of systemic scleroderma is called CREST syndrome. It is one of the autoimmune diseases.
What is CREST Syndrome?
CREST syndrome is a collagen disease. It is considered a special form of progressive systemic scleroderma. The autoimmune disease is also known as Thibierge-Weissenbach syndrome or limited systemic scleroderma.
According to AbbreviationFinder, the term CREST is an abbreviation for calcinosis cutis, skin calcification, Raynaud’s syndrome, esophageal dysfunction, which is a functional disorder of the esophagus, sclerodactyly (hairless hardened fingers) and telangiectasia, in which the superficial skin vessels are located pathologically expanding, used.
CREST syndrome is a locally occurring form of scleroderma that is limited to the symptoms mentioned. The internal organs change and the skin of the affected person thickens. Due to the local limitation, the course of this form of scleroderma is relatively milder.
The reasons for the 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.
Antibodies directed against the centromeres can be detected in around 70 percent of all patients. They are called anticentromere antibodies. They are a sub-form of anti-nuclear antibodies.
Symptoms, ailments & signs
The CREST syndrome is characterized by five key symptoms: One is calcinosis cutis. These are limescale deposits that show up on the skin. They occur primarily on parts of the body that are further away from the trunk, such as the fingers.
Although it is possible to have these deposits removed by surgery, the CREST syndrome also has circulatory disorders, which increases the risk of infections and impaired wound healing. Even life-threatening complications are possible.
Another key symptom of CREST syndrome is Raynaud’s syndrome. It is characterized by a white discoloration of individual fingers or finger parts or even the entire hand. Often times, the discoloration can be seen even when it is slightly cold. The Raynaud attacks are therefore more frequent in the winter months than in summer. However, a seizure can be triggered by touching a finger in a freezer.
The reason for Raynaud’s attacks are vascular spasms such as those in the arteries. As the CREST syndrome progresses, there is a risk of permanent arterial narrowing, which results in severe circulatory disorders. This in turn threatens tissue death.
The English term esophagus stands for the esophagus (esophagus). In esophageal dysfunction, the connective tissue hardens, which in turn leads to movement disorders in the esophagus. As a rule, the patient does not even notice these disorders. In the advanced stage, however, there is a risk of swallowing disorders.
Another striking symptom of the CREST syndrome is sclerodactyly. This changes the connective tissue. This solidifies and loses its elasticity. The skin on the fingers hardens and tightens so that it tightens around the bones. In addition, the formation of open skin areas is possible, the healing of which proceeds only slowly.
The fifth and final key symptom of CREST syndrome is telangiectasia. This refers to small widenings of tiny blood vessels that are far away from the main artery. They are noticeable as small visible veins on the skin, which are particularly evident on the face and fingers.
Diagnosis & course
The anamnesis (medical history) of the patient, which is recorded by the attending physician, plays an important role in the diagnosis of CREST syndrome. A physical exam will also take place. Sclerodactyly and telangiectasia provide important information about the disease.
If the doctor 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 carried out in which the centromere antibodies are detected. An immunofluorescence examination is carried out for this purpose.
The antinuclear antibodies (ANA) show a typical fluorescence pattern. It is difficult to assess the course of CREST syndrome. As a rule, however, the disease is less severe than scleroderma.
The CREST syndrome primarily leads to severe circulatory disorders. Different regions of the body can be affected. In most cases, infections can occur in these areas in a simplified manner and the person affected continues to suffer from so-called wound healing disorders. The wounds can become infected and only heal very slowly.
If the circulatory disorders persist in the same place for a longer period of time, in the worst case scenario, the tissue can die. This results in paralysis and severe restrictions on movement. Swallowing disorders also occur. Patients complain of visible veins on the skin and especially in the face, which can have a negative effect on the patient’s aesthetics.
In the further course of the disease, inflammation of the joints can also occur. Treatment is carried out with the help of medication and does not lead to further complications. However, the course of the disease is not always positive and cannot be universally predicted. Complications arise when there is damage to the internal organs. In the worst case, this damage can also cause the patient to die.
When should you go to the doctor?
Since the CREST syndrome does not heal itself, a doctor must be consulted in any case. A medical examination should be carried out, especially if the extremities are at a greater distance from the trunk of the body. Likewise, disorders of the blood circulation or wound healing can indicate this disease and must also be examined by a doctor. The earlier the disease is diagnosed, the higher the chances of a complete cure.
Difficulty swallowing or narrowing of the arteries can also be symptoms of CREST syndrome, which must also be investigated. In addition, a doctor should be consulted if there are visible small veins on the skin, which can usually be seen on the fingers or directly on the face.
A general practitioner can diagnose and treat CREST syndrome in most cases. Other complaints, such as inflammation of the joints, are treated by the respective specialist. However, a complete cure is not possible in every case.
Treatment & Therapy
A doctor needs a lot of experience to treat CREST syndrome effectively. For this reason, therapy by a specialist is recommended. Most doctors in internal rheumatology or clinical immunology have sufficient experience. As a rule, a dermatologist is consulted first, as skin discomfort shows up at the onset of the disease.
Combined treatment by specialists from different disciplines may sometimes be necessary. Part of the therapy is treating the symptoms. This includes, among other things, the administration of medication such as cortisone-free anti-inflammatory drugs. They are given to treat painful inflammation of the joints.
In addition, the blood circulation is promoted with special drugs, whereby an infusion therapy is also possible. If there is clear autoimmune activity of the CREST syndrome, disease-modified therapy approaches are considered useful. The patient is given the anti-inflammatory 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 disease-modified therapy as early as possible. In addition, there should be no major damage to the organs.
Outlook & forecast
In CREST syndrome, patients rely on treatment from a variety of doctors. As a rule, the disease cannot be treated completely, so that those affected are always dependent on therapy in their lives. The treatment can be carried out by surgical interventions and by taking medication. However, no general prediction can be made about the further course of the disease, as this depends heavily on the severity of the CREST syndrome. Only in a very few cases can the disease be completely limited.
The therapy is mainly based on the preservation of the organs. If no treatment is initiated in the case of CREST syndrome, the affected person suffers damage to the organs and usually dies on them. There is also inflammation in the joints and a very severely weakened immune system.
Even with successful treatment, the joints can suffer from discomfort, so that patients are dependent on various exercises and therapies to promote their mobility. They are therefore mostly dependent on the help of other people in their everyday life. In the case of CREST syndrome, it is also not possible to make general predictions about life expectancy. Early diagnosis and therapy always have a positive effect on the further course of the disease.
There is no known effective prevention against CREST syndrome. In the case of an existing illness, however, it is recommended to protect the affected parts of the body from the cold and to do physiotherapy exercises so that the mobility of the joints is maintained.
An autoimmune disease like CREST syndrome usually lasts for a lifetime. A causal therapy is not possible, which is why treatment focuses on the individual symptoms. After completing the initial treatment, those affected must consult their doctor regularly. The further treatment of immune disorders and any calcifications or hardening can take several years or even decades, depending on the severity of the disease.
The patient must undergo a medical examination once or twice a month so that the course of the disease can be checked. The cycle can later be reduced to six-monthly or annual examinations. The usual routine examinations are also necessary, especially for elderly and seriously ill people.
Patients suffering from CREST syndrome should discuss the follow-up measures with their doctor at an early stage. The emotional stress that accompanies a protracted illness can often be significantly reduced through good planning. The doctor will sometimes call in other doctors and therapists for follow-up care, always depending on the type and severity of the symptoms and complaints. If the outcome is positive, the regular follow-up checks and any accompanying measures (physiotherapy, psychological discussions) can be gradually reduced.
You can do that yourself
Patients with CREST syndrome usually require extensive medical treatment. Medical therapy can be supported by a few measures.
Individual symptoms such as typical circulatory disorders can be reduced by changing your diet. Soothing herbal teas, as well as classic home remedies such as warm milk, help to relieve swallowing difficulties. If joint inflammation occurs, the affected part of the body must be spared. Especially in the acute phase of the illness, the sick person should refrain from physically strenuous activities and, if necessary, use aids such as crutches. If this does not work, the medication must be changed.
In general, an optimally adjusted medication is an important factor in the treatment of CREST syndrome. It is best for the patient to keep a complaint diary in which he notes the symptoms, but also any side effects and interactions. In addition, it can be useful to carry out physiotherapy. Under the guidance of an expert, exercises can be done that reduce pain and often also counteract circulatory disorders.
In addition to these measures, close monitoring by a specialist is always necessary. If the CREST syndrome is positive, everyday life can be returned to after a few weeks or months.