<blockquote> <h3>Fast Facts:</h3> <ul> <li>Scleroderma, a Greek word meaning “hard skin”, is a rare rheumatic and autoimmune disease characterized by abnormal thickening and hardening of the skin, and sometimes, other organs.</li> <li>Scleroderma affects four times more women than men, and it is typically found in people between the ages of 30 and 50.</li> <li>It is estimated that 1 in 10,000 Americans are diagnosed with scleroderma each year and there are an estimated 125,000 active cases in the United States.</li> <li>Therapeutic options for scleroderma include pharmaceutical grade moisturizers to help soften the skin, drugs to alleviate heartburn if the esophagus is affected, and immune-suppressing medications to stop the immune system from destroying its own cells.</li> </ul> </blockquote> <p>Imagine not being able to bend your fingers to tie your shoes, barely being able to hold a cup of coffee for a sip, or becoming so weak that climbing a single step leaves you gasping for breath. Even eating becomes an arduous task because you can’t open your mouth wide enough for a normal bite. For some people living with scleroderma, that is the reality of their daily life.</p> <p>Scleroderma is a disease that causes tissue in the skin and other organs to thicken and harden. It can affect every aspect of a person’s life making living normally with scleroderma very challenging.</p> <p>And sadly, to date, no pharmaceutical drugs exist that can cure scleroderma. On the bright side, however, there may be a possible high-risk high-reward treatment for scleroderma in stem-cell transplantation.</p> <h2>Scleroderma: Scarred for Life</h2> <p>Derived from the Greek words "sclero" meaning hard and "derma" meaning skin, scleroderma is a chronic disease that causes hardening and thickening of the skin, and sometimes, organs. Hardening of tissue is the result of fibrous scar tissue being formed, which can be fatal in some cases when it occurs in vital organs. Sadly, there is no cure for scleroderma; once you have it, you have it for life.</p> <p>Interestingly, scleroderma affects four times more women than men and it is typically found in people between the ages of 30 and 50. It is estimated that 1 in 10,000 Americans are diagnosed with scleroderma each year and there are an estimated 125,000 active cases in the United States.</p> <p>Scleroderma is a rheumatic disease, which means people with scleroderma may have inflammation, pain, swelling, and stiffness in the joints, tendons, ligaments, bones, muscle, and/or tissues. It also causes changes to the texture and appearance of the skin due to increased collagen production. Collagen is the main structural protein that makes up all tissue and it is the component that hardens with this disease.</p> <figure><img alt="" src="https://cdn.storymd.com/optimized/MAN241cNAl/thumbnail.jpg" /> <figcaption>Dark, shiny skin on distal phalanges of both hands in systemic sclerosis. <em>Source: Maria Sieglinda von Nudeldorf/Wikimedia</em></figcaption> </figure> <h2>The Bad and the Deadly Forms of Scleroderma</h2> <p>Scleroderma occurs on a spectrum. Meaning that in some cases the symptoms are severe and rapidly progressing, while other cases can be mild. There are two types of sclerodermas that exist, limited and systemic. With limited scleroderma, the disease is mostly confined to the skin. However, in its most severe form, systemic scleroderma, other major organs – digestive tract, lungs, heart, and kidneys – may be affected and it can be fatal.</p> <p>In both limited and systemic scleroderma, something causes the immune system to go haywire leading it to start attacking its own tissues – making scleroderma an autoimmune disease. As a result of the autoimmune-mediated attack, thinking there is an injury to repair, the body’s cells are fooled into over producing collagen. This leads to a buildup of collagen in tissues causing them to become hard and fibrous.</p> <p>Hardening of skin tissue can lead to the skin not being as pliable, limiting mobility, whereas hardening of organ tissue can lead to organ malfunction and irreversible organ damage.</p> <p>While the exact cause of scleroderma is unknown, mutations in the DNA sequence of certain genes may be partly responsible for driving the development of autoimmunity. But just as critically, the environment may also play a major role in exploiting these genetic weaknesses. Environmental factors such as the water you drink, the food you eat, exposure to pollutants and chemicals, contracting certain viral infections, chronic stress, etc. may all be involved in changing the way your DNA functions.</p> <h2>Stem Cell Transplantation: A High-Risk but High-reward Treatment for Scleroderma</h2> <p>While there is no cure for scleroderma, there are ways to manage the disease. Therapeutic options for the disease rely heavily on medications that only meekly address some of the symptoms. These include pharmaceutical grade moisturizers to help soften the skin, drugs to alleviate heartburn if the esophagus is affected, and immune-suppressing medications to stop the immune system from destroying its own cells.</p> <p>With that said, however, researchers of a decade-long study revealed a possible new “dog” in the fight against scleroderma: stem-cell transplantation. Stem cells are specialized cells that can develop into many different types of cells (e.g., muscle cells, brain cells, etc.) and in some cases, they can also fix damaged tissues. Eureka!</p> <p>The procedure of stem-cell transplantation as a treatment for scleroderma involves collecting the stem cells from the person suffering from scleroderma. Simultaneously, that person’s immune system is wiped out with chemotherapy and radiation. The stem cells are then returned to their body where the stem cells can rebuild the immune system from scratch – kind of like “rebooting” the immune system. With this new “reboot”, the goal is to reprogram the immune system to recognize its own cells and stop it from attacking and destroying itself. The hope is that a stem cell transplant can replace the need for the current standard of care treatment of taking immunosuppressant drugs for life.</p> <h2>Stem Cell Transplantation is Risky Business</h2> <p>Findings from the study demonstrated that people who received a stem cell transplant had:</p> <ul> <li>Improved overall survival compared to those who received standard treatment (86% vs 51%)</li> <li>Less need for immune suppressing drugs versus those who did not receive the stem cell transplant (9% vs 44%)</li> </ul> <p>While the results from the study are promising, it is an extremely risky procedure. After treatment begins, there is a period of time in which the immune system will not function well enough to protect from infections. Meaning that any minor infection can result in severe, and sometimes deadly, consequences – especially if the infection is caused by a virus such as coronavirus.</p> <p>Furthermore, results from the study revealed that there were more deaths related to treatment in the group who received the stem cell transplant compared to those who only received the standard treatment (3% vs 0%). And several study participants treated with stem cell transplantation died within 5 years of treatment.</p> <p>So yes, the study results are encouraging. However, the benefits of stem cell transplantation can come at a hefty cost – your life’s savings and, in some cases, possibly your life. Thus, more research is needed before it can become the standard of care treatment for all cases of scleroderma.</p> <h2>More on Scleroderma</h2><ul><li><a href="https://soulivity.storymd.com/journal/vj6kk32izm-scleroderma" target="_blank">Scleroderma: Causes, Symptoms, Treatment</a></li><li><a href="https://soulivity.storymd.com/journal/7m7qxkkspj-blood-forming-stem-cell-transplant" target="_blank">Blood-Forming Stem Cell Transplant</a></li><li><a href="https://soulivity.storymd.com/journal/vj6degruzw-women-and-autoimmune-diseases" target="_blank">Women and Autoimmune Diseases</a></li></ul>