CREST syndrome is a term used in the past to describe the entity known today as limited systemic sclerosis (lSSc). The disease belongs to the group of autoimmune diseases - it is known that specific autoantibodies are produced in its course - its causes, however, are still unknown. Is Limited Systemic Scleroderma Syndrome a serious disease? Where did the name of this unit come from in the form of the acronym CREST?

CREST syndrome(nowlimited form of systemic sclerosis ) began to appear in medical positions in 1964. It was then that R.H. Winterbauer, at the time a medical student at the Johns Hopkins School of Medicine, reported on the stories of 8 patients who developed a very similar compilation of symptoms.

These were soft tissue calcifications, Raynaud's phenomenon, esophageal motility abnormalities, as well as sclerodactyly and telangiectasia.

The acronym CREST (where C stands for calcinosis, R - Raynaud's phenomenon, E - esophageal dysmotility, and S - sclerodactyly and T - teleangiectasia) is derived from the first letters of these symptoms.

Nowadays, CREST syndrome is defined more as a limited form of systemic scleroderma. The problem belongs to a wider group of diseases, which are mainly systemic scleroderma and systemic scleroderma without skin changes.

  • Systemic sclerosis: causes, symptoms, treatment

Most often, CREST syndrome develops in people between the ages of 30 and 50, but it can develop at a younger or older age. The unit is much more common in women than in men. Black people are more likely to develop CREST syndrome for unknown reasons.

CREST team: reasons

The CREST syndrome has been mentioned in the medical world for a long time, but to this day it has not been possible to determine what is responsible for its occurrence. It belongs to the group of autoimmune diseases.

It is known that specific autoantibodies appear in the course of the individual (including antinuclear ANA or ACA anti-centromeric antibodies that are specific to lSSc).

It has also already been observed that the disease is associated with an overproduction of TGF-beta (transforming fibroblast growth factor), which leads to over-stimulation of fibroblasts in the body and ultimately to overproduction of collagen fibers. However, what is the direct cause of the CREST -th syndrome is still unknown.

Genes may contribute to the pathogenesis of the disease - it is noticeable that people predisposed to autoimmune diseases (having relatives suffering, for example, from rheumatoid arthritis, Hashimoto's disease or systemic lupus erythematosus) have an increased risk of CREST syndrome.

The factors that may be associated with the occurrence of this disease are also various toxic substances, such as trichlorethylene or benzene (exposure to them would increase the risk of CREST syndrome, especially in people with a family history of autoimmune diseases).

CREST syndrome: basic symptoms

The main symptoms of CREST syndrome are those problems that gave the unit its first name. In its course there are the previously mentioned:

  • calcifications in soft tissues: in various parts of the body, patients develop nodular formations of various sizes, which are made of calcium deposits
  • Raynaud's phenomenon: often it is the first manifestation of the CREST syndrome, appearing even before the other symptoms of this disease; it consists in the occurrence of a characteristic cascade of phenomena, where the fingers first suddenly turn pale, then turn bluish, and finally take on a vivid red color
  • esophageal motility abnormalities: they occur due to the occurrence of fibrosis and atrophy of the smooth muscle within the esophagus, and mainly result in difficulties in swallowing (patients with CREST syndrome often struggle with dysphagia), in addition, patients may also complain of symptoms of gastro-oesophageal reflux disease
  • sclerodactyly: changes in the toes caused by, among others, deposition of collagen fibers within them - in the course of CREST syndrome, patients' fingers may look sausage-like, but may even result in atrophy of the fingertips or shortening of the distal phalanges
  • telangiectasias: the appearance of significantly dilated blood vessels in the skin, especially the face, hands and mucous membranes.

CREST syndrome: other symptoms

The above-described problems are indeed the most classic symptoms of CREST syndrome, but there are many more in the course of this unitirregularities.

The disease is called limited scleroderma - the name did not come from nowhere. Well, one of the most characteristic manifestations of this unit is progressive fibrosis (leading to hardening) of both the skin and various internal organs.

In the course of CREST, skin lesions appear mainly in the face and the ends of the arms and legs. A symptom of these abnormalities in the area of ​​the face may be a problem called a masked face (in this case, the patient's facial expressions are limited).

It should be emphasized here that in the case of CREST syndrome, the degree of skin fibrosis is not correlated to any degree with organ fibrosis - in patients with severe skin lesions, internal organs may only be slightly affected by a similar process pathological.

Fibrosis in organs inside the body can lead to very serious problems. When the respiratory system is involved, patients may experience shortness of breath, but also a dry cough.

In the event of changes in the heart, patients may develop cardiac arrhythmias, but also may even lead to abnormal contractility of the heart muscle, which may eventually lead to symptoms of heart failure.

People with CREST syndrome develop pulmonary hypertension quite often.

While many possible symptoms of CREST have already been listed, there is still more to it. With the duration of the disease and the increase in fibrosis in various organs, more and more ailments may appear, such as dry mucous membranes, arterial hypertension or intestinal motility disorders.

Patients - especially those with frequent and severe Raynaud's phenomenon - are at risk of developing ulcerative lesions, which in the worst case may become necrotic, which may require amputation of the affected fingers .

CREST Team: Recognition

In the diagnosis of CREST syndrome, the most important thing is to identify the symptoms characteristic for this entity and to detect autoantibodies (such as the previously mentioned ANA antibodies or ACA antibodies and other antibodies).

Sometimes a skin biopsy is used to diagnose the disease - it can show fibrosis-related changes, but due to the large number of false-negative results, it is not routinely performed in the diagnosis of the syndromeCREST.

When diagnosing CREST syndrome, it is very important to perform tests in the patient, which will allow to determine whether the disease has already led to significant organ complications. For this purpose, patients may be ordered, among others:

  • endoscopic examination of the gastrointestinal tract (e.g. gastroscopy)
  • X-ray examinations of the bones
  • computed tomography of the chest
  • echocardiography
  • respiratory function tests
  • EKG
  • stress tests

CREST team: treatment

There are currently no treatments for causal treatment for CREST. Patients are recommended to use immunosuppressants that may affect the activity of a stimulated immune system - examples of preparations that are used for this purpose are methotrexate and mycophenolate mofetil.

It is worth emphasizing one aspect here: drugs that are most associated with immunosuppressive effects, i.e. glucocorticosteroids, in patients with CREST syndrome are contraindicated due to the fact that they may aggravate their skin lesions.

In fact, not the immunosuppression itself, but the so-called Organ specific therapy is the cornerstone of the treatment of CREST syndrome. We are talking about offering patients a therapy that will affect the symptoms of CREST syndrome.

For example, in order to prevent Raynaud's phenomenon, patients may be recommended to use calcium channel blockers (e.g. nifedipine), in patients with pulmonary fibrosis, cyclophosphamide treatment may be initiated, and in patients with severe symptoms of gastroesophageal reflux, it is recommended drugs from the group of proton pump inhibitors may be used.

However, not only pharmacotherapy is important in patients with CREST syndrome. Physical therapy is sometimes recommended for patients - thanks to it it is possible for them to stay fit for a long time.

Patients are also advised that they should avoid the cold and smoking (this can reduce the incidence of Raynaud's phenomenon) and are stressed that they should take extra care of their skin.

CREST team: prognosis

Patients with CREST have a better prognosis than those who develop generalized scleroderma.

From the moment of diagnosis, the 10-year survival rate is even more than 75% of all patients.

People with serious organ complications, such as pulmonary hypertension, have worse prognosis.

It is estimated that this very dangerous problem develops inWithin 10-20 years of becoming ill, less than 10% of all people with CREST syndrome have a disease.

Category:

Immune system