Clinical Immunology focuses on the immune system’s health. Learn about the diagnosis and treatment of allergies, autoimmune diseases, and immunodeficiencies.
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The clinical presentation of scleroderma is notoriously protean, meaning it can take many forms and change significantly over time. No two patients will have identical symptom constellations. The disease affects the body in a patchwork fashion, driven by the underlying vascular and fibrotic damage. Recognizing the symptoms requires a systems-based approach, examining the skin, blood vessels, digestive tract, lungs, heart, and kidneys. Understanding the specific risk factors that predispose individuals to these symptoms is equally vital for early intervention and risk stratification.
Skin involvement in systemic sclerosis typically evolves through three distinct phases, particularly in the diffuse subtype. Understanding these phases helps in monitoring disease activity.
In the early stages, patients often experience painless swelling of the fingers and hands. This is not the hard skin seen later, but rather a “puffy” appearance in which fine wrinkles disappear and rings may become tight. This edema is caused by fluid retention in the tissues due to leaky, damaged microvasculature. Patients may report morning stiffness and a sensation that their skin feels “too tight” in their hands.
As the disease progresses, the swelling is replaced by thickening and hardening (induration). The skin becomes shiny and taut, adhering to the underlying subcutaneous tissue, making it difficult to pinch. Hair growth in the affected areas stops, and sweat glands may stop functioning, leading to dry, itchy skin. This phase is characterized by intense collagen deposition.
After several years, the skin may soften and thin out (atrophy). While this might seem like an improvement, it actually represents the final stage of fibrosis, where the tissue has become fragile. Despite the softening, underlying contractures (permanent joint tightening) may persist if physical therapy has not been maintained.
Vascular dysfunction is almost universal in systemic sclerosis and is often the sentinel symptom.
Raynaud’s phenomenon describes the exaggerated vasospasm of the digital arteries in response to cold or stress. While “Primary Raynaud’s” is common in the general population and benign, “Secondary Raynaud’s” associated with scleroderma is pathological. It is often more severe, leading to critical ischemia. The attacks are more prolonged, more painful, and can occur even with minor temperature drops, such as reaching into a freezer or entering an air-conditioned room.
Chronic lack of blood flow leads to tissue death at the fingertips. This manifests as digital ulcers—excruciating, slow-healing open sores that are prone to infection. Over time, repeated ischemia causes “pitting scars,” which are small, depressed areas on the fingertips where tissue has been lost. In severe cases, vascular compromise can lead to gangrene and necessitate amputation.
The GI tract is the second most commonly involved organ system after the skin, affecting up to 90% of patients. The fibrosis and atrophy of the smooth muscle in the digestive tract lead to hypomotility (slow movement).
The esophagus is frequently affected. The lower esophageal sphincter becomes incompetent, allowing acid to reflux into the esophagus (GERD). This is not typical heartburn; it can be severe enough to cause erosive esophagitis and strictures (narrowing), making swallowing solid foods difficult (dysphagia).
Also known as “watermelon stomach” due to the striped appearance of blood vessels in the stomach lining, GAVE can cause chronic, silent bleeding, leading to profound anemia.
In the small intestine, slowed motility can lead to Small Intestinal Bacterial Overgrowth (SIBO). Stagnant food allows bacteria to proliferate, leading to bloating, diarrhea, and malabsorption of essential nutrients. In the large intestine, hypomotility often results in severe constipation and, in rare cases, pseudo-obstruction.
Lung involvement is the most critical aspect of modern scleroderma management. There are two primary presentations.
ILD involves inflammation and scarring of the lung tissue itself (the interstitium). This creates a barrier to oxygen transfer. Symptoms include a persistent dry cough and dyspnea (shortness of breath) on exertion. It is most common in diffuse cutaneous systemic sclerosis and often presents early in the disease course. “Velcro crackles” can be heard at the lung bases through a stethoscope.
PAH involves high blood pressure in the arteries connecting the heart to the lungs. Unlike ILD, the lung tissue itself remains flexible, but the vessels narrow, straining the right side of the heart. This is more common in the limited cutaneous (CREST) subtype. Symptoms include severe fatigue, breathlessness, and fainting spells (syncope).
Fibrosis can affect the heart muscle (myocardium), leading to diastolic dysfunction (stiffness prevents proper filling). It can also affect the electrical conduction system, causing arrhythmias. Pericardial effusions (fluid around the heart) are also seen during active inflammation.
SRC is a medical emergency characterized by the abrupt onset of malignant hypertension and acute kidney injury. It occurs in 10-15% of patients with diffuse disease. Symptoms include severe headache, blurred vision, seizures, and breathlessness due to flash pulmonary edema. The risk is highest in the early years of the disease and in patients taking high-dose steroids.
Arthralgia (joint pain) and arthritis are common. A unique finding in scleroderma is “tendon friction rubs,” a leathery, creaking sensation felt when a patient moves a joint, caused by fibrin deposits on the tendon sheaths. This is a marker of severe diffuse disease.
While the central nervous system is rarely directly involved, peripheral neuropathies can occur. Trigeminal neuralgia (facial pain) and carpal tunnel syndrome (due to tissue swelling compressing the nerve) are frequent complaints.
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This is Raynaud’s phenomenon. The blood vessels in your fingers spasm and clamp shut to preserve core body heat, cutting off blood flow to the extremities, turning them white and blue.
Medically called GAVE, it is a condition where dilated blood vessels line the stomach in a striped pattern. These vessels are fragile and can bleed, causing anemia.
Yes. Tightening of the facial skin (microstomia) makes dental hygiene difficult. Additionally, widening of the periodontal ligament is a common X-ray finding, and dry mouth (sicca) increases the risk of cavities.
The earliest signs are often subtle, such as getting out of breath when climbing stairs or a dry, nagging cough that doesn’t go away.
Yes, it can cause myopathy (muscle weakness) and myositis (muscle inflammation), leading to difficulty in lifting objects or climbing stairs.
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