Introduction
Scleroderma may not be something you have heard of. About 300,000 Americans have been diagnosed with scleroderma. Scleroderma is an autoimmune disease affecting the connective tissue of the skin, blood vessels, and internal organs. It is an inflammatory response where collagen deposits in the skin and internal organs. Scleroderma is not contagious, infectious, cancerous or malignant (Cantwell, 2018). It varies from person-to-person. It is a chronic disease that plagues the diseased for years, for this is a lifelong disease after diagnosis. The disease can be mild or life-threatening. The severity of the disease depending on which part of the body is affected, or whether the condition is properly treated or not (Fritzler, M & Choi, M., 2016). This paper will go deeper into details on the cause, risk factors, pathophysiology, and diagnosis of this disease process.
Etiology and Risk Factors
The risk factors of Scleroderma depend on the type. Morphea is more common in ages 20 to 40. Linear occurs mainly in children. Systemic scleroderma is more common in 30-50 years old (Cantwell, 2018). Scleroderma is also more common in women than men. Though the cause of scleroderma is unknown, it is believed that genetics play a role. You are at increased risk if you have a family history of scleroderma or exposed to chemicals on a regular basis (Cantwell, 2018).
Pathophysiology
When a person is born, they are already born with antibodies. As they go on in life, they will have acquired more antibodies. Scientists believe that autoantibodies are involved in the pathogenesis of scleroderma. These autoantibodies cause an overproduction of extracellular matrix by fibroblasts, connective tissue producing cells, in the skin and muscle (Yamamoto, 2013). Clinical manifestations of scleroderma are the result of innate/adaptive immune system abnormalities leading to production of autoantibodies and cell-mediated autoimmunity, microvascular endothelial cell/small vessel fibroproliferative vasculopathy, and fibroblast dysfunction generating excessive accumulation of collagen and other matrix components in skin and internal organs (Pattanaik, D., Brown, M., Postlethwaite, B. C., & Postlethwaite, A. E., 2015).
Clinical Manifestations
There are two types of scleroderma, systemic and localized, which has different symptoms depending on the type. Localized consists of morphea, made up of local patches, and Linear, where a single line of skin is thickened. Systemic Scleroderma is over a wider area of the skin and organs, mainly affecting the organs. This type is the most severe and commonly leads to death, (Cantwell, 2018). Progressive thickening and fibrosis of skin secondary to excessive connective tissue accumulation is the most evident and universal finding and can be associated with varying degrees of fibrosis of internal organs (Pattanaik, D., et al., 2015). One of the most obvious manifestations of scleroderma is “Stone Facies.” It’s when collagen deposits into the face and hardens and the face becomes “stone-like.” Other symptoms include hair loss, Raynaud phenomenon, arthralgia, difficulty swallowing, pulmonary and renal issues (Fritzler, M & Choi, M., 2016).
Diagnostics
There are several types of exams and labs used to diagnose scleroderma and its type. A positive Antinuclear Antibody (ANA) is key is diagnosing scleroderma. It’s a test looking at the presence of autoantibodies in the host. It is produced by the body when the body can’t distinguish cells between “self” and “non-self,” (Cantwell, 2018). Since scleroderma has effects on the lungs, a lung CT must be done. An echocardiogram is used when the heart is possibly affected. Esophageal studies can be done if the patients has symptoms such as difficulty swallowing.
Conclusion
Scleroderma is an autoimmune disorder affecting millions of people in the world, most commonly women. Although the cause of scleroderma has not been fully determined, scientist believed that genetic abnormalities play a role in the manifestation of this disease (Cantwell, 2018). Proper treatment can lessen the effects of the disease. With more research, we can better understand scleroderma and how to combat it.