Systemic sclerosis is a rare disease, also known as an orphan disease. With the previous classification criteria published in 1980, the incidence of systemic sclerosis is 1.9-5 per 100,000 people, with an increase in recent decades. The number of people affected by systemic sclerosis is estimated at 5-20 per 100,000 population. New classification criteria to be published this year show a higher prevalence of over 300 people affected per million population as well as a higher incidence, but further large epidemiologic studies are needed. Systemic sclerosis can occur at any age, but peaks between 45 and 55 years of age. Women are affected more often than men, especially at a younger age, at a ratio of 3-9 to 1. Life expectancy is significantly shortened, women by an average of 34 years and men by an average of 16 years.
Classification of systemic sclerosis
Earlier classification criteria focused heavily on fibrotic changes, but these do not occur in all patients with this disease and do not always reflect the severity of systemic sclerosis. The disease is now increasingly considered to be primarily a vascular disease, in which fibrosis may or may not occur. However, most patients have at least intermittent signs of fibrosis or "puffy fingers", indicating scleredema. A common first symptom is Raynaud's syndrome, which occurs in over 90% of patients. As the disease progresses, vasoconstriction can occur, leading to various complications, the most serious of which are pulmonary arterial hypertension (pulmonary hypertension) or renal crisis (renal crisis). New classification criteria developed by the EULAR and the American College of Rheumatology (ACR) therefore propose a points system in which different symptoms are assessed differently.
Severe organ manifestations and complications of the disease
Pulmonary fibrosis
Pulmonary fibrosis is responsible for about 35% of all disease-related deaths. Many patients with systemic sclerosis show at least mild signs of pulmonary fibrosis, and in about 20% these are severe. A high-resolution CT scan and regular lung function tests are important. Every patient should be questioned regularly about breathlessness and exercise capacity. Early initiation of therapy may be necessary to prevent the progression of pulmonary fibrosis. Immunosuppressants may be an option and in severe cases a stem cell transplant may be considered. Glucocorticoids are not effective in severe pulmonary fibrosis. Endurance training and vaccinations are important adjunctive measures.
Conclusion for practice
Regular monitoring and early initiation of therapy are important to prevent the progression of pulmonary fibrosis.
Pulmonary arterial hypertension (pulmonary hypertension)
Pulmonary arterial hypertension (PAH) is responsible for around a quarter of all deaths associated with systemic sclerosis (SSc), making it a serious complication. Early diagnosis through annual screening improves prognosis. PAH can occur at any stage of the disease, although it is more common in patients with late onset systemic sclerosis. This complication affects patients with diffuse or limited skin involvement equally and should be considered in any patient with shortness of breath.
The annual screening includes echocardiography (cardiac ultrasound), lung function tests to record the diffusion capacity over the course of the disease and the determination of NT-proBNP. A drop in diffusion capacity or an increase in NT-proBNP values identify patients at risk. Echocardiography is not very sensitive, particularly in the border areas, so a right heart catheter should be performed if relevant symptoms are present.
Patients with risk factors require interdisciplinary care by rheumatologists, cardiologists or pulmonologists, preferably in an experienced center for PAH. The diagnosis of PAH requires a differential diagnosis to rule out other causes of pulmonary hypertension.
The prognosis of patients with PAH is worse than in patients with idiopathic PAH, although hemodynamics are better in SSc patients. Therefore, there is a risk of undertreatment, which requires regular goal-oriented care for therapy monitoring and optimization.
In summary, PAH is a complication that requires experience and interdisciplinary care, as well as established patient pathways and a well-functioning network of stakeholders.
Heart involvement (cardiac involvement)
Cardiac involvement in systemic sclerosis (SSc) is another important complication and causes about a quarter of all deaths associated with SSc. Autopsy examinations show cardiac involvement in almost all SSc patients, but this is not always clinically relevant. The adaptive capacity of the heart in pulmonary arterial hypertension (PAH) can be decisive for the prognosis. A Doppler sonographic examination can detect right ventricular dysfunction. Pericardial effusion, diastolic dysfunction, conduction disturbances and left ventricular dysfunction are other possible cardiac manifestations in SSc patients. About 5% of patients have hypertrophic cardiomyopathy.
Annual echocardiography is important to detect cardiac involvement early. Vasospastic angina is often associated with Raynaud's symptoms, and about 10% of SSc patients suffer from coronary artery disease (CAD), with a 3.2-fold increased risk compared to the general population. Risk factors for the occurrence of CHD in SSc patients include PAH, female gender and older age.
Renal involvement (renal crisis)
Renal crisis is a rare but serious complication in SSc patients, occurring in less than 5% of those affected. Renal crisis is associated with acute renal dysfunction and increased retention and has a poor prognosis, with a 50% five-year mortality and a high rate of dialysis dependency. Risk factors for renal crisis include high daily doses of cortisone, male gender, anti-polymerase III antibodies and other symptoms such as severe skin fibrosis and contractures of the large joints.
The treatment of renal crisis requires a multimodal and interdisciplinary approach that primarily reduces arterial hypertension with ACE inhibitors and AT blockers. Ca antagonists, alpha blockers and intravenous prostacyclins can also be used, and plasma exchange can improve the prognosis.
Overall, the diagnosis and treatment of cardiac and renal involvement in SSc patients requires careful attention, regular screening and an interdisciplinary approach in order to recognize and treat serious complications at an early stage.
Further manifestations
Systemic sclerosis (SSc) can have a variety of manifestations that can severely impact a patient's quality of life. Here are some important manifestations and their consequences for practice:
Raynaud's symptoms
Treatment of Raynaud's symptoms is important to prevent dysesthesia and loss of finger function. Oral medications such as Ca antagonists are a primary treatment option, while intravenous prostacyclins and bosentan etc. can be used to prevent new ulcers.
Digital ulcerations
Open fingers impair hand function and quality of life and require early and consistent treatment. Local excision is often most effective, while intravenous prostacyclins, bosentan and sildenafil are also effective.
Calcinosis
Skin calcifications can lead to inflammation and severe pain and often require collaboration with a hand surgeon.
Arthralgias, arthritides, myalgias and myositides
Joint and muscle involvement should be treated with immunosuppressants to prevent chronic use of NSAIDs (painkillers) and improve quality of life. Occupational therapy and physiotherapy are also important.
Itching
This common symptom can significantly impair quality of life and often requires immunosuppressive therapies.
Sicca symptoms
Dry mucous membranes of the eyes and mouth are particularly distressing for patients and should be investigated and treated.
Gastrointestinal symptoms
Gastrointestinal disorders can significantly impair quality of life and require comprehensive gastroenterological diagnosis and treatment, including nutritional therapy and treatment of bacterial overgrowth.
Neurological manifestations
Such as polyneuropathies or neuralgias can become very significant in some patients and require specialized treatment.
Birth and pregnancy
Young patients should be made aware of the risk of premature delivery with low birth weight, and it is advisable to refer them to special consultations for high-risk pregnancies.
Overall, these non-life-threatening manifestations of systemic sclerosis have a significant impact on patients' quality of life and should therefore be recognized and treated. This requires a multidisciplinary approach and comprehensive patient care.
The "silent" problems of patients with systemic sclerosis
The "silent" problems of patients with systemic sclerosis are as important as the obvious clinical manifestations and should be addressed and treated by physicians. Here are some of these issues and their implications for practice:
- Proteinuria: Protein excretion can influence the prognosis of systemic sclerosis and should therefore be recognized and treated. ACE inhibitors and AT blockers could potentially be therapeutically useful, but there are no sufficient studies to date.
- Hand function disorders: Contractures and shortening of the tendons can impair hand function. Regular assessment and occupational therapy measures are important to maintain the functionality of the hands.
- Body image and sexuality: Many patients feel stigmatized and restricted in their attractiveness due to their visible illness. Sexual dysfunction is common and can affect self-esteem. Supportive and empathetic medical care is important here.
- Loss of ability to work: The severity of the disease and symptoms of fatigue can lead to a loss of ability to work and severely impair the patient's quality of life. Psychosocial problems should be identified and supported, and links to self-help groups can be helpful.
- Sleep disorders: Sleep disturbances are common in patients with systemic sclerosis and may be associated with the severity of the disease. Holistic treatment that takes into account possible causes such as nocturnal dyspnea, reflux and pain is important.
- Psychosocial problems: Depression and anxiety disorders are common and should be recognized and treated. Compassionate medical care and, if necessary, referral to specialized therapists are important.
Overall, it is important to recognize and treat the "silent" problems of patients with systemic sclerosis, as they can have a significant impact on the patient's quality of life and well-being. Structured questionnaires and sufficient time for the assessment and care of patients are helpful here.
Common comorbidities in patients with systemic sclerosis
Common comorbidities in patients with systemic sclerosis are of great importance and should be recognized and treated early. Here are some of them:
- Depression: Depression is at least twice as common in patients with systemic sclerosis as in the general population. It can be associated with the severity of the disease and fatigue. The detection of depression using standardized questionnaires such as the PHQ-9 is important in order to initiate therapeutic measures.
- Cancer: Patients with systemic sclerosis have an increased risk of cancer, and lung cancer in particular is significantly more common than in the general population. Smoking and alcohol consumption are further risk factors. Hematological tumors are also more common.
- Osteoporosis: Osteoporosis occurs with similar frequency in patients with systemic sclerosis as with rheumatoid arthritis. Vitamin D deficiency and advanced age are risk factors. The fracture rate is increased.
- Malnutrition: Lack of exercise, reduced appetite and possible increased energy consumption due to the autoimmune disease can lead to malnutrition. Around half of patients with systemic sclerosis show signs of malnutrition, which is also related to the severity of the disease. Early detection and treatment of malnutrition is important and often requires interdisciplinary care by nutritional therapists.
Overall, comorbidities in patients with systemic sclerosis should be carefully monitored and treated, as they can have a significant impact on patients' health and quality of life.
Summary
In summary, it can be said that systemic sclerosis is a complex and rare disease that requires specialized care in specialist consultations. Due to its diversity in the forms of progression, the different organ involvement, the serious prognosis and impact on quality of life as well as the limited therapeutic options, a close connection to networks such as the German or European Network for Systemic Sclerosis as well as to study centers and research institutions is essential in order to meet the needs of patients and achieve improvements.
The role of the rheumatologist as a doctor with extensive internal medicine training is crucial, as he or she has an important mediating and coordinating function between different specialist disciplines. Each of these specialties requires specific experience in the treatment of patients with systemic sclerosis, which is a challenge. The treatment of systemic sclerosis is highly variable and research into new therapeutic approaches is urgently needed. Specialized centers can play a crucial role in this by facilitating collaboration between different specialties and driving the development of new therapies.
