Professor Park Young-jae of the Division of Rheumatology at Seoul St. Mary’s Hospital cited three key warning signs that should raise suspicion of systemic sclerosis. First, Raynaud’s phenomenon, in which the fingertips or toes turn white in cold or stressful conditions. Second, swelling and stiffness of the hands. Third, becoming short of breath more easily than peers or having a persistent dry cough. / Screenshot from Seoul Economic Daily TV’s “Renowned Doctors Now”
There is a disease that hardens the body. The skin on the fingers and the backs of the hands swells and tightens, then gradually thickens and stiffens. In severe cases, it invades not only the skin but also internal organs such as the lungs, heart, and kidneys. This unfamiliar rare autoimmune disease is called systemic sclerosis.
Systemic sclerosis was formerly also called scleroderma, which literally means a disease in which the skin hardens. Patients often first complain of swollen hands, a feeling of tightness in the finger skin, or cold fingertips that change color. But systemic sclerosis is not a simple skin disease. Although visible changes begin in the skin, the core of the disease is that vascular abnormalities, autoimmune reactions, and fibrosis occur together and can invade organs throughout the body.
On Seoul Economic Daily TV’s “Now, the Master Physician,” we meet Professor Park Young-jae of the Division of Rheumatology at Seoul St. Mary’s Hospital, a leading authority on systemic sclerosis, to learn about the early signs, diagnosis, organ involvement, and latest treatment strategies of the disease.
◇ Rare Autoimmune Disease Leads to Vascular Inflammation and Fibrosis
Systemic sclerosis is a rare autoimmune disease. Its clear cause has not yet been identified. However, it is known that when a person with a genetic predisposition is exposed to various environmental factors, the immune response is activated, followed by vascular abnormalities, inflammation, and fibrosis.
There are three main features of systemic sclerosis. The first is microangiopathy, in which problems occur in small blood vessels. Blood circulation in peripheral areas such as the fingertips and toes declines, and symptoms appear as the blood vessels contract excessively. The second is the autoimmune reaction. Autoantibodies that attack the body are detected, and the inflammatory response is activated. The third is fibrosis. As fibrous tissue such as collagen accumulates excessively, the skin and organs turn hard.
“Systemic sclerosis is a distinctive disease even among autoimmune diseases, as microangiopathy, autoimmune reactions, and fibrosis appear together,” Professor Park said.
◇ Raynaud’s Phenomenon, With Fingertips Turning White, an Early Symptom
The representative early sign of systemic sclerosis is Raynaud’s phenomenon. When exposed to cold or stress, the tips of the fingers or toes turn white, and in severe cases turn blue, then return to red as they warm up. This is different from simply having cold hands and feet. In Raynaud’s phenomenon, the boundary of the color change is distinct, and it may be accompanied by numbness or pain in the hands.
“Raynaud’s phenomenon accompanies almost all patients with systemic sclerosis,” Professor Park said. “If you have symptoms of fingertips turning white when you go out into the cold, it is best not to dismiss it as simply cold hands and feet, but to see a rheumatologist.”
In the early stages, symptoms of swollen and stiff hands may also appear. Afterward, as the skin gradually thickens and stiffens, making a fist or spreading the hand may become difficult.
Raynaud’s phenomenon, an early symptom of systemic sclerosis. / Screenshot from Seoul Economic Daily TV’s “Renowned Doctors Now”
Skin changes are an important clue that raises suspicion of systemic sclerosis. Normal skin is easily pinched softly with the fingers, but as systemic sclerosis progresses, the skin thickens and stiffens, making it hard to pinch. As areas that once had sweat glands or hair are replaced by fibrous tissue, the skin becomes smooth and glossy, sweat does not form well, and dryness and itching may occur.
◇ Dangerous When Organs Such as Lungs and Pulmonary Arteries Are Invaded
The more important problem in systemic sclerosis is internal organ involvement. “When components such as collagen accumulate in internal organs, life-threatening problems can arise,” Professor Park said.
One of the organs to be most careful about is the lungs. Systemic sclerosis is known as a disease relatively often accompanied by interstitial lung disease among autoimmune diseases. The lungs are originally soft organs that hold air. However, when inflammation and fibrosis occur in the interstitial areas of the lungs, the lung tissue hardens and loses its elasticity. The patient experiences difficulty breathing. This is called systemic sclerosis-associated interstitial lung disease, commonly known as pulmonary fibrosis. “For patients diagnosed with systemic sclerosis, we take chest CT scans to check for lung involvement even if there are no symptoms,” Professor Park explained.
Pulmonary arterial hypertension is also an important complication. When the lungs harden, resistance arises in the blood flow to the lungs, and pulmonary artery pressure can rise. Pulmonary arterial hypertension causes shortness of breath, fatigue, and strain on the heart, and in severe cases can be life-threatening.
Heart and kidney involvement is also possible. When fibrosis occurs in the heart muscle or in the areas through which electrical signals pass, arrhythmia and other conditions may appear. In the kidneys, an emergency situation called “scleroderma renal crisis” can occur. This is a state in which blood pressure suddenly becomes uncontrollable, accompanied by severe headache, decreased urine output, and rapid deterioration of kidney function. Recently, as at-risk patients are identified early and treatments have advanced, this is experienced more rarely than in the past, but it is still a complication requiring caution.
◇ Diagnosis Through Nailfold Capillary Examination and Blood Tests
Various tests are used for diagnosis. The first test performed is a nailfold capillary examination. This is a test in which the small blood vessels at the area where the nail begins are observed under a microscope. Normal capillaries are arranged neatly in a hairpin shape, but in patients with systemic sclerosis, the blood vessels may appear abnormally enlarged, show traces of bleeding, or, in advanced cases, present findings of vessel loss.
Blood tests are also important. The possibility of an autoimmune disease is checked through an antinuclear antibody test, and autoantibody tests related to systemic sclerosis are additionally performed. In addition, a rheumatology specialist directly touches the skin to assess the degree of skin hardening. Once systemic sclerosis is diagnosed, chest CT and pulmonary function tests to check for lung involvement, as well as echocardiography to check for pulmonary arterial hypertension, are performed together. Even if the initial tests show no abnormalities, organ involvement can appear over time, so regular follow-up observation is necessary.
◇ Treatment Varies Depending on Patient Symptoms
Treatment is approached differently for each patient. Systemic sclerosis presents in various forms, including patients who mainly show skin symptoms, patients accompanied by pulmonary fibrosis, patients for whom pulmonary arterial hypertension is the problem, and patients with severe gastrointestinal symptoms. Therefore, rather than treating everyone with a single drug, treatment agents are selected according to the involved organs and symptoms.
“Organ-specific approaches are important in treating systemic sclerosis,” Professor Park explained. “We use vasodilators for blood circulation problems, immunosuppressants for autoimmune inflammatory reactions, and antifibrotic agents when fibrosis is prominent.”
In particular, antifibrotic agents are drawing attention in the treatment of pulmonary fibrosis. Nintedanib is an antifibrotic agent that has shown an effect in slowing the progression of pulmonary fibrosis. Although it is difficult to return already hardened lung tissue to normal, it is significant that treatment to suppress faster progression of fibrosis has become possible. “We combine treatments that suppress the inflammatory response to prevent additional fibrosis and inhibit already-formed fibrosis from progressing further,” Professor Park said.
“Compared to the past, the survival rate and treatment environment for systemic sclerosis have improved greatly,” Professor Park emphasized. “Treatment optimized for each patient and regular management are important.” He added, “If you consult a rheumatology specialist early and manage the condition consistently, you can continue a healthy daily life, so I hope patients do not despair too much.”