What is scleroderma?
Scleroderma is a serious autoimmune disease that causes hardening (sclerosis) of connective tissue. This hardening may occur in the skin, and is often accompanied by problems of the capillaries. It also affects internal organs, such as the stomach, esophagus, intestine, lungs, and kidneys. Depending on the literature, a distinction is made between two types: morphea and systemic scleroderma.
Although morphea and systemic sclerosis have similar skin lesions, there is very little overlap. Morfea does not go over in systemic sclerosis. Symptoms advocate for systemic sclerosis Raynaud's phenomenon, symmetrical skin lesions and positive ANA.
Systemic sclerosis is relatively rare: only two to sixteen new cases per million inhabitants. Morfea is more common. The cause is unknown, it is examined whether it may have a genetic background.
Morphea scleroderma
Morfea (also spelled as morphea) is a form of scleroderma confined to the skin. At certain places an inflammatory reaction occurs, so that the dermis-spot thickened and increase of connective tissue (collagen) shows. The inflammation is visible as a purple coloring; The connective tissue then remains as a white, stiff, often flaking lesion.
There are several forms morphea distinguished:
- Plaque Type: herewith are 1 or several plaques present, which can vary in size (from 1 to 20-30 cm).
- Linear type: 1 linear position, usually on the head. Because it can sometimes resemble the scar from a cut injury, this is also called morphea and called coup de saber.
- Deep morphea (morphea profunda) deep in the skin are pavements (nodules) felt, as a form of adipose tissue inflammation.
- Generalized: large areas of skin are affected.
Demarcation with other disorders
- The type of skin disorders (scleroderma) are in systemic sclerosis same as morphea. Patients start with morphea, develop only at high exceptions to systemic sclerosis. In morphea skin disorders are usually not symmetrical, the fingers are not usually affected (sclerodactyly), missing Raynaud's phenomenon, and is also the ANA negative.
- The skin abnormalities in morphea may also appear on the skin lesions of non-genital lichen sclerosus. Histological examination shows here mostly inconclusive.
- After infection with the parasite Borrelia burgdorferi (Lyme disease) can cause similar skin lesions. It may be wise here to perform blood tests, and treat if necessary.
Systemic scleroderma
Systemic sclerosis is a systemic autoimmune or connective tissue disease. It is characterized by the deposition of collagen in the skin, and (less often) the kidneys, the heart, the lungs and the stomach. The disease is four times more common in women than in men.
Usually the first symptoms are thickening and swelling of the fingertips. Raynaud's phenomenon, in which the fingers suddenly become very pale and begin to tingle or become numb in response to cold or emotional upset, is also common. Typically, the fingers are blue when the heat returns in it. Frequently, the first symptoms are accompanied with pain in several joints. Heartburn, difficulty in swallowing and shortness of breath are often the first symptoms of scleroderma, but this usually occurred only later on, when the esophagus, heart and lung damage. In scleroderma, large areas of skin or only the fingers (sclerodactyly) are affected.
There are two forms of scleroderma: limited and diffuse.
Limited systemic sclerosis
Limited systemic sclerosis is characterized by thickening of the hands, face, legs and arms. The following symptoms may occur:
- Calcinosis: calcium deposits in the connective tissue of muscles and joints causes joint inflammation, and hence joints.
- Raynaud's phenomenon: narrowing of the blood vessels in the fingers or toes. With cold fingers are extremely white by vasoconstriction, then some blue because of ischemia and then red as a result of reactive vasodilation. Sometimes fingers thick and stiff and sore feet.
- Depletion of the esophagus.
- Sclerodactyly: hardening of the skin of the fingers.
- Telangiectasia: red spots on the skin as capillaries widen.
- In blood, antibodies present: these are called anti-centromere antibodies.
- In the English acronym, this is also referred to as CREST syndrome.
Diffuse scleroderma
Diffuse scleroderma affects the skin in addition also internal organs: heart, lungs, digestive tract and kidneys.
Skin
A typical course of the changes in the skin are as follows:
- There appear scars on the hands, the skin begins to thicken and harden in the hands, feet and face. Patients with diffuse scleroderma may get swollen hands before the skin starts to thicken.
- On the other parts of the body also develop bosses or hardening of the skin.
- Later, the skin can lose stretch ability and shiny as it extends to the underlying bone, with fingers, toes and around the mouth. In severe cases, the ability to bend the fingers disappear.
Digestive tract
If the esophagus loses motility because the muscles can not contract normally caused by scar tissue, is swallowing more difficult. Moreover, can enter gastric acid in the esophagus. It is believed that in severe cases may spill into the acid of the stomach into the lungs leading to scar tissue in the lungs. Approximately 80% of the patients has a reduced gastric function. A slower emptying of the stomach is usual. Some patients may have dilated blood vessels in the stomach, which can lead to bleeding which results in a decrease of red bloedcelllen. Lack of motility of the gastrointestinal tract leading to bacterial growth and as a result lack of vitamins and weight loss. A serious development is a so-called pseudo-obstruction or darmparalyse.
Reins
Scleroderma can lead to signs of kidney failure and high blood pressure. In addition to these high blood pressure are also proteins in the blood and urine indicative of scleroderma. In the past, was the loss of renal function by scleroderma almost always fatal. Introduction of ACE inhibitors, the outlook has improved dramatically. 5 to 10 percent of patients develop kidney problems, which may make dialysis or transplantation is necessary. However, the kidneys are then once again susceptible to scleroderma.
Lungs
Scleroderma may develop a dry cough and shortness of breath. When the pressure in the pulmonary arteries is increased this could lead to one-sided heart failure. Further, the sclerodermiepatiënt is susceptible to pneumonia.
Scleroderma diagnosis
Scleroderma is a rare disease, so much so that the number of patients is an estimate. It will go from 2,500 to 3,000 patients in the Netherlands, is also called 1 in 10,000. The disease is more common in women than in men, and is reflected between 30 and 50 years. The chance that a doctor throughout his practice affects a scleroderma patient is therefore virtually zero. The first symptom is Raynaud's phenomenon, in which people suffer from blue and sore fingers and toes. An estimated 30 percent of the Dutch have this. A small part of them gets scleroderma. Scleroderma specialists always recommend to blood tests as people suffer from their fingers and toes.
Early detection of scleroderma, among other possible nail bed microscopy.
Scleroderma causes
No clear causes of scleroderma It is recognized. In any case, it is thought that there are no genetic causes, it is also not inherited. Recently it has been observed that scleroderma patients have a 1000-fold concentration of a particular type of immune cells seen. These cells affect the connective tissue. The production and maturation of immune cells is disrupted, why is unknown.
As mentioned earlier women four times more likely to become ill than men. In a disproportionately large number of female patients, the onset of the disease can be traced back to a pregnancy. American research has found among female scleroderma patients in affected tissues DNA of the child, sometimes even 10 years after pregnancy. The presumption is therefore that in such cases the scleroderma started during pregnancy by a dysfunction of the placenta, which DNA of the fruit in the bloodstream of the mother has arrived. This then has in some cases (depending on a certain incompatibility between this DNA and the mother) an uncontrolled autoimmune response causes the immune system of the mother. However, such incompatibility reactions are rare; an imperfect filtering action of the placenta does not necessarily mean an autoimmune reaction in the mother.
Scleroderma treatment
Treating symptoms in scleroderma holds. The suppression of the immune system by immunosuppressants drugs still affect the disease is most directly. Also prednisone is prescribed to suppress inflammation. Because scleroderma may affect various parts of the body, the approach is directed at the symptoms exhibited by the patient. For the digestive system it will be attempted to prevent the growth of bacteria by means of antibiotics. In order to maintain the motility of the gut an anti-emetic may be given, for example, domperidone.
Forecast
The course of the disease varies from patient to patient. The disease can slow, and then keep patients facing a normal life expectancy. Cause of death as a result of scleroderma is changed. The percentage of deaths due to kidney failure has declined sharply, while deaths due to lung complications has increased. Lung complications are the first cause of death due to scleroderma disease.
The severity of scleroderma vary greatly and the course is difficult to predict. In general, there are two possible expire if it is acute or progressive, it is a life threatening condition that affects the internal organs. The most critical period are the first 2-5 years of disease. If there is no question of a progressive course, whether the patient survives the initial acute phase, then the gradient is much slower. If the condition of the skin is poor at the beginning of the disease, then the chances of survival are worse. It is common that the disease has a plateau where there is a stabilization. After this there follows a period of improvement and softening the skin. The cause of the occurrence of the plateau is unknown, and it can act independently of management.
Quality of life
The complications of scleroderma have a major impact on the wellbeing of the patient. Patients are worried about changes in their appearance, especially that of the tightening of the facial skin. Depressions, along with pain, have a major influence on the ability to retain a social life after.
Research
The research into the disease is hindered by the fact that there are so few patients. It is therefore difficult to create tests that know enough participants to make statistically reliable statements on the outcome of the test. Within the partnership Eustar attempts to come to some agreement about research and exchange of results.