Scleroderma
definition
Scleroderma is a chronic autoimmune disease characterized by overproduction of collagen, resulting in hardening and fibrosis of tissues. It mainly affects the skin and internal organs such as the gastrointestinal tract, lungs, heart, and kidneys.
Activation of the immune system leads to the production of autoantibodies and damage to blood vessels, resulting in thickening and blockage of small vessels (microangiopathy). These changes cause typical skin hardening, loss of skin elasticity, leading to wounds, mainly on the hands.
The disease can occur at any age and in any race, with a frequency of 0.2% in the Greek population (about 1,500 patients, with 100 new diagnoses annually). The actual number may be higher due to delayed diagnosis in the early stages.
- Specialization, experience, and long-term scientific training
- Comprehensive and Effective Treatments
- Maximum Effectiveness
- Without side effects
Symptoms
Symptoms vary. In the early stages, Raynaud’s phenomenon usually appears, characterized by color changes in the skin of the hands and feet, as well as swelling in the fingers. Patients often show thickening and hardening of the skin, especially on the hands and face, along with stiffness and pain.
The disease can affect swallowing and digestion, cause respiratory issues, or lead to cardiac complications.
Types
Scleroderma is classified into two main types: localized, which is limited to the skin, and systemic, which affects other organs as well. Systemic scleroderma is further divided into limited and diffuse, with the diffuse type causing more severe symptoms.
Etiology
The cause of the disease is not fully understood, but genetic and environmental factors are believed to be involved. Epigenetic factors, such as stress and environmental pollution, affect body biochemistry and contribute to its development.
Complications and impact on daily life
Severe complications of Scleroderma include pulmonary arterial hypertension and digital ulcers. Pulmonary arterial hypertension presents with shortness of breath and fatigue during exercise. Digital ulcers, which result from microangiopathy, are painful wounds in the fingers that reduce the quality of life and increase the risk of infection.
Systemic Scleroderma negatively affects many aspects of patients’ daily lives. Self-confidence and self-esteem are reduced, as facial changes impact psychological well-being. Finger stiffness makes daily tasks difficult, and the disease can also negatively affect sexual life.
Diagnosis
Diagnosing scleroderma is a complex process requiring careful assessment of all parameters, a combination of clinical and laboratory tests, detailed analysis of the patient’s medical history, and collaboration between the patient and the medical team. Early diagnosis is crucial for effective disease management and improved quality of life.
Personal Medical History
The doctor collects details about the patient’s symptoms, family history, and any previous illnesses.
Clinical Examination
The doctor performs a detailed clinical exam, looking for physical signs that suggest scleroderma, such as skin changes, joint stiffness, and any symptom related to the heart or lungs.
Laboratory Tests
Blood Tests
Tests are conducted to detect specific antibodies related to scleroderma. Two important antibodies are anti-topoisomerase-1 (Scl-70), found in over 60% of Diffuse Systemic Scleroderma cases, and anti-centromere antibodies, found in 90% of patients with Limited Systemic Scleroderma.
Lung CT Scan
Used to assess lung function and condition.
Heart Ultrasound
Examines the structure and function of the heart, detecting possible complications.
Capillaroscopy
Evaluates digital ulcers and the condition of small blood vessels.
Therapeutic Management
Therapeutic management of Scleroderma requires a personalized approach, as disease manifestations vary significantly from patient to patient. The main categories of drugs and therapeutic approaches used to manage the disease include:
Immunomodulatory/Immunosuppressive Drugs
Help regulate the immune system and reduce inflammation. These often include drugs like cyclosporine and azathioprine.
Glucocorticoids
Cortisone in low doses is used to relieve symptoms and reduce inflammation. It is important to monitor dosage and treatment duration, as side effects can be serious.
ACE Inhibitors
Used to manage hypertension and pulmonary arterial hypertension associated with scleroderma.
Prostanoids
Administered to improve blood circulation and reduce hypertension, especially in cases of pulmonary arterial hypertension.
Calcium Channel Blockers
Help manage vasospasms and improve blood flow in the fingers.
Phosphodiesterase Type 5 Inhibitors
Assist in treating pulmonary arterial hypertension by enhancing blood flow in the lungs.
Endothelin Receptor Antagonists
Reduce blood pressure and improve the function of blood vessels.
Early diagnosis of scleroderma, appropriate medical treatment, and monitoring by specialists from various fields (e.g., rheumatologists, pulmonologists, cardiologists) are of great importance for effective disease management, prevention of serious complications, and improvement of patients’ quality of life.