OVERVIEW

What is systemic sclerosis?

Systemic sclerosis, also known as scleroderma, is a chronic disease of unknown cause characterized by diffuse fibrosis, degenerative changes, and vascular abnormalities in the skin, joints, and internal organs (particularly the esophagus, gastrointestinal tract, lungs, heart, and kidneys).

Common symptoms include Raynaud's phenomenon, polyarthralgia, dysphagia, heartburn, and swelling/thickening of the skin with finger deformities. Involvement of the lungs, heart, and kidneys is the leading cause of death. Diagnosis is clinical, but laboratory tests can aid confirmation. There is no specific treatment, with management focusing on complications.

Is systemic sclerosis common?

Systemic sclerosis is more common in women, with an incidence 3–4 times higher than in men. It predominantly affects people aged 20–50 and is rare in children.

What are the types of systemic sclerosis?

Based on the extent of skin involvement and associated internal organ patterns, the main subtypes of systemic sclerosis include:

• Diffuse cutaneous type;
• Limited cutaneous type;
• Type without skin sclerosis, where only internal organs are affected;
• Environmentally induced;
• Overlap syndrome, where features coexist with other rheumatic diseases.

Is systemic sclerosis highly fatal?

The prognosis of systemic sclerosis is difficult to predict. Generally, the disease progresses slowly. The 10-year survival rate is approximately 65%. Mortality is linked to risk factors, with most deaths related to pulmonary fibrosis, pulmonary hypertension, or cardiac causes. Other significant causes include kidney disease, malignancy, gastrointestinal complications, and infections.

SYMPTOMS

What are the common manifestations of systemic sclerosis?

The most common symptoms of systemic sclerosis include:

• Fingers and toes turning white or bluish-purple after exposure to cold or stress, a phenomenon called Raynaud's phenomenon.
• Skin swelling, gradually hardening and becoming thicker than normal.
• Stiff joints due to the surrounding skin losing its ability to stretch as before.
• Small white lumps appearing inside or beneath the skin of fingers, called calcinosis or calcium deposits.
• Symptoms that may occur when other organs are affected include:
• Gastrointestinal involvement: Common symptoms include acid reflux (stomach acid flowing back into the esophagus), difficulty swallowing, esophageal obstruction, heartburn, hoarseness, coughing after swallowing, bloating, alternating constipation and diarrhea, and fecal incontinence.
• Lung involvement: Shortness of breath, dry cough, etc.
• Erectile dysfunction.

Which areas of the body are commonly affected by systemic sclerosis?

Systemic sclerosis can affect the entire body, with diverse systemic manifestations. The most prominent are circulatory abnormalities (most notably Raynaud's phenomenon) and multi-organ system involvement (including musculoskeletal, renal, pulmonary, cardiac, and gastrointestinal systems), accompanied by fibrosis and vascular complications.

How does systemic sclerosis progress?

The disease progression of systemic sclerosis is generally divided into the following three stages:

• Edematous phase: Initial symptoms are nonspecific, including fatigue, vague musculoskeletal discomfort, diffuse hand swelling, and Raynaud's phenomenon. Most patients seek medical attention due to Raynaud's phenomenon. Patients experience symmetrical, painless swelling, tight and thickened skin, loss of wrinkles, pale skin, sausage-like fingers, and progression toward the proximal regions. Swelling may also appear on the back of the hands and sometimes the forearms. A few cases start from the trunk and gradually expand outward.
• Indurative phase: The skin becomes thickened, hardened, loses elasticity, and adheres to deeper tissues, making it immobile and impossible to pinch. It appears shiny and leather-like. The condition may affect fingers, hands, limbs, trunk, and face. Facial manifestations include a characteristic mask-like appearance, reduced expression, fewer wrinkles, limited eyelid movement, difficulty opening the mouth, and significantly reduced maximum lip separation when attempting to open the mouth.
• Atrophic phase: In later stages, skin lesions enter the atrophic phase, where skin tightness becomes less noticeable, and the skin may thin and soften to varying degrees, appearing smooth like parchment. Hyperpigmentation or hypopigmentation may occur, and hair in affected areas may fall out. Due to skin atrophy, hardening, and loss of elasticity, ulcers may easily develop on hand joints after friction or impact.

What are the complications of systemic sclerosis?

Complications of systemic sclerosis include skin disorders, Raynaud's phenomenon, kidney disease, gastrointestinal disease, lung disease, musculoskeletal disorders, heart disease, and genitourinary system disorders. Regular screening for major organ complications is essential, including heart disease, interstitial lung disease, pulmonary hypertension, and kidney involvement.

CAUSES

What are the common causes of systemic sclerosis?

The pathogenesis of systemic sclerosis is complex and not yet fully understood.

Exposure to environmental triggers (including vinyl chloride, epoxy resins, pesticides, and various organic solvents used in paints) and toxins may lead to differential disease expression in genetically susceptible hosts.

For some individuals, genetic factors alone can cause the disease. Research suggests that systemic sclerosis is associated with abnormal immune system function, which activates the secretion of various autoantibodies and cytokines, leading to damage and activation of vascular endothelial cells. This affects the collagen-synthesizing function of fibroblasts, ultimately causing hardening of blood vessel walls and tissue fibrosis.

Is systemic sclerosis contagious?

No.

Is systemic sclerosis hereditary?

It has a certain hereditary component. Genetic factors influence disease susceptibility and expression patterns, but having a family history does not guarantee the onset of the disease.

DIAGNOSIS

How is systemic sclerosis diagnosed?

For patients with skin thickening, finger swelling, hand stiffness, or painful distal finger ulcers, systemic sclerosis may be suspected. For suspected cases, the following laboratory tests can be performed, including:

• Blood tests:
• Complete blood count and differential count: May reveal anemia due to iron malabsorption or gastrointestinal blood loss.
• Serum creatinine levels: May indicate renal insufficiency.
• Creatine kinase: May be elevated in patients with myopathy or myositis.
• Urinalysis.
• Serological tests: Antinuclear antibody (ANA), anti-topoisomerase I (anti-Scl-70) antibody, and anti-centromere antibody (ACA). Positive results support the diagnosis.
• Skin biopsy: During this test, a small sample of skin is taken and examined under a microscope to check for signs of scleroderma.
• Chest CT scan: CT scans are more sensitive than chest X-rays.
• Breathing tests: Also called pulmonary function tests, which assess lung function.

Is a skin biopsy necessary for diagnosing systemic sclerosis?

A skin biopsy is not required for diagnosis. In some cases, it may help differentiate systemic sclerosis from other conditions, such as eosinophilic fasciitis, scleredema, or scleromyxedema.

What diseases can systemic sclerosis be confused with? How to differentiate them?

• Systemic sclerosis may be confused with eosinophilic fasciitis: Eosinophilic fasciitis primarily affects areas proximal to the wrists and ankles, sparing the hands and feet. Skin changes include a peau d'orange appearance and the groove sign (collapsed superficial veins upon limb elevation).
• Systemic sclerosis may be confused with scleredema: Scleredema is characterized by symmetric skin thickening, mainly on the trunk, especially the shoulders and upper back. The face may also be involved. Patients lack Raynaud's phenomenon, and visceral organ involvement is rare.
• Systemic sclerosis may be confused with scleromyxedema: Scleromyxedema features waxy, yellow-red papules on the head, neck, arms, and upper trunk, often appearing on thickened and hardened skin. A skin biopsy is diagnostic.

TREATMENT

Which department should I visit for systemic sclerosis?

Rheumatology and Immunology.

Can systemic sclerosis resolve on its own?

Systemic sclerosis requires early detection and treatment. Without intervention, skin and internal organ involvement will progressively worsen.

How is systemic sclerosis treated?

Since the symptoms and organ involvement of systemic sclerosis vary widely, treatment should be personalized. It mainly includes the following aspects:

• Regular check-ups every few weeks or months to monitor blood pressure and assess kidney and lung function.
• Medications to manage symptoms in different parts of the body. Common drugs are listed below.
• Surgery to remove calcium deposits.

What are the common side effects of systemic sclerosis medications?

• Nonsteroidal anti-inflammatory drugs (NSAIDs) like diclofenac can relieve pain but may cause gastrointestinal side effects.
• Corticosteroids such as dexamethasone reduce inflammation and pain but may lead to osteoporosis, iatrogenic Cushing's syndrome (moon face, buffalo hump, and central obesity), or even renal crisis.
• Immunosuppressants like methotrexate and cyclophosphamide can improve alveolitis but may cause gastrointestinal reactions and hematologic toxicity.
• Calcium channel blockers like nifedipine help with Raynaud's phenomenon but may trigger gastroesophageal reflux.

Can systemic sclerosis be completely cured?

Currently, there is no definitive cure for systemic sclerosis. However, early diagnosis and proper treatment can effectively control disease progression, slow organ damage, improve quality of life, and prolong survival.

DIET & LIFESTYLE

What should patients with systemic sclerosis pay attention to in their diet?

Patients with systemic sclerosis who also have gastrointestinal involvement should eat small, frequent meals. After eating, they should sit or adopt a semi-recumbent position rather than lying down. Food should be easy to digest and nutrient-rich.

What can patients with systemic sclerosis do to relieve symptoms?

Special creams containing lanolin (a fatty substance found in sheep's wool) can help keep the skin moisturized. For itching, over-the-counter antihistamines such as diphenhydramine may be used.

What should patients with systemic sclerosis pay attention to in daily life?

Systemic sclerosis may affect appearance and, in some cases, the ability to perform daily tasks, leading to stress and anxiety. Patients should educate themselves about the disease, maintain a positive mood, keep the skin and joints warm, strengthen joint function through exercise, build confidence, stay resilient, adjust their mindset, communicate frequently with doctors, and actively cooperate with treatment.

Does systemic sclerosis require follow-up examinations? How?

Follow-up examinations are necessary to monitor disease progression. All patients should undergo regular screening for major organ complications, especially heart disease, interstitial lung disease, pulmonary hypertension, and kidney involvement. The frequency of follow-ups should be determined by the doctor.

Does systemic sclerosis affect fertility?

Women with systemic sclerosis may have more difficulty conceiving than those without the disease and may be at higher risk of miscarriage (defined as pregnancy loss before 20 weeks).

During pregnancy, some symptoms (such as Raynaud's phenomenon) may improve due to vasodilation, while others (such as heartburn) may worsen. Skin fibrosis may also complicate childbirth.

Pregnancy can be very dangerous, even life-threatening, if systemic sclerosis has caused kidney problems. Therefore, patients should consult their doctors for a thorough evaluation before attempting pregnancy.

PREVENTION

Can Raynaud's phenomenon in systemic sclerosis be prevented? How to prevent it?

To some extent, attacks can be prevented by the following methods:

• Avoid sudden exposure to cold or abrupt temperature changes. Keep your entire body warm and stay away from cold drafts or environments. Wear layers of clothing, hats, and gloves for warmth.
• Do not smoke, as smoking worsens symptoms.
• Avoid medications that cause blood vessel constriction, such as cold medicines.
• Try to relax and reduce stress in daily life.
• If an attack occurs, try to restore warmth to your hands to quickly stop it. You can immerse your hands in warm water or place them in a warm environment.