Progressive systemic scleroderma (PSS) is a chronic inflammatory disease of the connective tissue and vascular system caused by a dysregulation of the body’s immune system. Women are more commonly affected by progressive systemic scleroderma than men.
What is progressive systemic scleroderma?
Progressive systemic scleroderma (PPS) is a chronic inflammation of the connective tissue and vascular system of the skin and internal organs that results from a dysfunctional immune system (autoimmune disease). Due to a dysregulation of the immune system, in progressive systemic scleroderma the immune system attacks the body’s own collagenous connective tissue (collagenosis) and causes inflammatory reactions that lead to a loss of elasticity of the skin, and later also of the organs, and to hardening (sclerosis). This results in edema of the fingers and hands as well as sclerodactyly, the mask face characteristic of progressive systemic scleroderma due to loss of facial expression, dysphagia due to shortening of the lingual frenulum, and inflamed joints (arthralgias).
Causes
The symptoms typical of progressive systemic scleroderma are caused by immune dysfunction, whereby the immune system attacks the body’s own structures, particularly the collagenous connective tissue and vascular system of the skin and internal organs, causing inflammatory reactions. In addition, in progressive systemic scleroderma, there is a dysregulation of certain cells of the connective tissue (fibroblasts), causing them to synthesize more collagen, which accumulates in the skin and causes the skin changes characteristic of progressive systemic scleroderma and, as it progresses, the connective tissue and vascular changes in the internal organs. The triggers for this dysregulation are not yet known. In addition to genetic factors, viral and bacterial antigens as well as certain drugs, tumors, UV light, and sex hormones are discussed as triggers for progressive systemic scleroderma.
Symptoms, complaints, and signs
The symptoms of progressive systemic scleroderma can be divided into three stages. Initially, skin changes and thickening are noted on the hands and feet. The initial stage of progressive systemic scleroderma is also characterized by edema of the hands. The connective tissue increasingly hardens. It breaks down. Raynaud’s syndrome is also typical. This is characterized by whitish-bluish, poorly perfused hands. Sometimes necrosis of the tense skin areas burdened by hardened scar tissue occurs at this stage. The facial expression is increasingly reduced. The progressive skin tension causes mask-like facial features. Since the lip region can also be affected by increasing tissue hardening, radiating wrinkles often form around the mouth opening. The mouth becomes increasingly smaller. Medically, this is called a microstomy. Small blood vessels in the face often dilate to form telangiectasias. Skin pigmentation may also be strikingly altered. In the second stage, the inflamed and edema-ridden joints can no longer be moved without restriction and pain due to the increasing skin tightening. Progressive systemic scleroderma causes curvature of fingers or toes. The third stage of progressive systemic scleroderma affects internal organs. These are also increasingly affected by hardening. This leads to hardened digestive organs, pulmonary fibrosis, and difficulty swallowing due to sclerotic changes in the esophagus and oral cavity.
Diagnosis and course
Progressive systemic scleroderma is diagnosed on the basis of the presenting symptoms, particularly skin changes. The diagnosis is confirmed by tissue sampling and analysis (biopsy) from the affected skin areas and in the course of a blood test. In the presence of progressive systemic scleroderma, the concentration of certain immunological proteins, the so-called antinuclear antigens, and the ESR (erythrocyte sedimentation rate) are elevated. Furthermore, capillary microscopy of the nail bed can reveal the stage-dependent vascular changes characteristic of progressive systemic scleroderma. A possible dysphagia can be diagnosed on the basis of a pressure measurement in the esophagus (food pipe).In addition, cardiac sonography (ultrasound) and analysis of lung function provide information about organ involvement. Progressive systemic scleroderma can have two different courses. The so-called acral scleroderma has a localized course, in which only smaller areas of skin are affected, especially on the feet and hands (acras). The prognosis is usually good if there is no lung involvement. In the diffuse course of progressive systemic scleroderma, the internal organs (kidney, lung, heart) are usually involved, making the prognosis and course infaust (unfavorable) depending on the extent of involvement.
Complications
Most complications of a diagnosis such as progressive systemic scleroderma are due to involvement of internal organs. In this form of scleroderma, it is not only the skin that is affected by hardening. The immune system is also involved in this rare autoimmune disease due to overreactions. It is therefore all the more important that those affected receive long-term treatment in order to avoid complications. Nicotine use can further aggravate the symptoms of progressive systemic scleroderma. In smokers, the already constricted vessels narrow even more. The increased tendency to inflammation is increased. The constriction of the vessels must also be reduced in this severe form of scleroderma with measures against cold influences. With inadequate nutrition, hydration and skin care, the skin of those affected dries out. Swallowing disorders, circulatory problems in the fingers or a mask face may occur due to the disease. Inflammatory episodes, intestinal problems and immune deficiency are common in sufferers. Complications can also occur in the musculoskeletal system with scleroderma. Without lymphatic drainage or physiotherapy, the joints become increasingly stiff. Moderate sports such as swimming are also advisable. In the third stage of the disease, pulmonary fibrosis may develop. Other organs can also become non-functional due to increasing tissue hardening. Because life expectancy is reduced in progressive systemic scleroderma, treatment is correspondingly intensive.
When should you see a doctor?
Changes in skin appearance, swelling, discoloration, or growths should be presented to a physician. If edema, thickening of the skin layers or peculiarities of the limbs develop, a follow-up visit to a doctor is advisable. Increasing discomfort or persistent irregularities should be investigated and treated. If there are abnormalities in facial expressions, there is cause for concern. If mask-like facial features or a restriction of facial expressions are noticed, a visit to the doctor is necessary. Hardening around the lips is characteristic of progressive systemic scleroderma. The symptoms must be clarified so that a treatment plan can be drawn up. In addition, the shape of the mouth, and in particular the opening of the mouth, becomes smaller and smaller in patients with the disease over time. If visible blood vessels develop in the face, restrictions in swallowing or visual changes in the oral cavity, a doctor should be consulted. Abnormalities of the esophagus and a decrease in food intake should also be investigated. General dysfunction, hardening inside the body or a feeling of tightness should be presented to a doctor. The diseases lead to changes in the organs, which must be treated to avoid complications or life-threatening conditions. Disturbances of the blood circulation, a feeling of illness or general malaise should be clarified by a physician. If the efficiency decreases or disturbances of the immune system are noticed, a physician should be consulted.
Treatment and therapy
Therapeutic measures in progressive systemic scleroderma are aimed at reducing and eliminating symptomatic symptoms and slowing the progressive course. Thus, anti-inflammatory drugs such as NSAIDs (non-steoridal antirheumatic drugs such as diclofenac) and glucocorticoids are used, especially in inflammatory episodes. Immunosuppressants (methotrexate, cyclophosphamide) are also used to minimize and inhibit the immune dysregulation present in progressive systemic scleroderma.Accompanying physiotherapy, occupational therapy, heat therapy and physical measures to maintain joint mobility as well as prudent skin care with lipid-replenishing ointments and lymph drainage are recommended. In addition, in the presence of circulatory disorders, vasodilators (prostaglandins) and acetylsalicylic acid may be used, while in progressive systemic scleroderma with renal involvement, antihypertensive agents (ACE inhibitors) are also used medicinally. In some cases of progressive systemic scleroderma, surgery may be required to remove skin defects or joint stiffness. Agents such as interferon, which inhibits the formation of new connective tissue, and tacrolimus, which suppresses an enzyme involved in immune defense (calcineurin), are in a trial phase. Positive experience has also been obtained with infused iloprost in progressive systemic scleroderma.
Prevention
Because the triggers for immune dysregulation in progressive systemic scleroderma are unknown, the disease cannot be prevented. However, some simple measures can alleviate symptoms. For example, saliva-stimulating candies (peppermint candies, chewing gum) and more frequent but smaller meals can alleviate present swallowing difficulties and prevent dry mouth. To avoid cold, it is recommended in progressive systemic scleroderma to move annual vacations to winter months and warm regions.
Aftercare
Progressive systemic scleroderma is a subset of scleroderma that is an incurable autoimmune disease. Therefore, in this form, direct follow-up is not possible and rather permanent treatment, of the mostly chronically worsening disease, is necessary. After a diagnosis and acute treatment, the long-term treatment must take place as well as the reduction, delay or prevention of possible late consequences in the course. In severe forms of the disease, these consequences can ultimately lead to the death of the patient. As a rule, the patient is dependent on a variation of medications for the rest of his or her life, and regular consultations with expert physicians are essential. The concrete course and a direct prognosis are not foreseeable, there are very different forms here. Finally, in the point of aftercare, palliative care should also be mentioned when it becomes clear that the disease will inevitably lead to death within a certain time. The patient’s quality of life can be increased or maintained at a very good level for as long as possible. In this context, one should not be afraid to turn to trained medical and nursing personnel in palliative care in good time and to take the wishes of the affected person into account accordingly.
What you can do yourself
For those affected, it is especially important that they receive durable medical care. Stopping or changing the medication of prescribed drugs on one’s own responsibility can lead to complications or an increase in existing symptoms. Since the consumption of nicotine causes a deterioration of health as well as an increase in the existing discrepancies, it should be completely avoided. Likewise, environments where people smoke should be avoided. The patient’s organism reacts even if the nicotine is only passively absorbed. Although the disease is triggered by a disorder of the immune system, there should still be sufficient strengthening of the body’s own defenses. A healthy lifestyle as well as a balanced diet contribute to a strengthening of the well-being. Overweight should be avoided and sufficient exercise should take place. Progressive systemic scleroderma is accompanied by visual changes. To avoid mental or emotional problems, it is necessary to strengthen self-esteem. Otherwise, mental illness may develop. As a compensation, attention should be paid to a stable social environment and leisure activities should be aimed at strengthening the joy of life. For the reduction of stressors, techniques of yoga or meditation can be helpful. These can be performed at any time by the affected person on his own responsibility.
