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Health Matters: Scleroderma, a disabling disease

Conway McLean, DPM, Journal columnist

Modern medicine has come far in its understanding of “disease” although there is too much unknown. Too often, people assume if they suffer some malady, there must be a cure. Woe unto those who experience one of the many conditions for which we have no solution, no magic bullet to resolve their problem. Modern medicine has many limitations, numerous mysteries remain, and a plentitude of diseases yet to be solved.

How many medical conditions result in pain as the most significant consequence? Less common is the disorder causing disfigurement, altering one’s countenance, leading to an obvious change in facial features. One disease may not come to mind because of its rarity. It’s one many are unfamiliar with, one of those poorly understood autoimmune diseases (with the most familiar being rheumatoid arthritis). And thus the conundrum of the autoimmune afflictions; it is self-inflicted, in effect. The body is attacking itself. An important question regarding symptoms is which organ system is targeted? With scleroderma, the topic of today’s discussion, it is any connective tissue. One of the most notable is skin.

Scleroderma, also known as systemic sclerosis, is a chronic connective tissue disease, generally classified as one of the rheumatic autoimmune diseases. Fortunately a relatively rare condition, the basic problem involves a gradual process of hardening and tightening of the skin and connective tissues, resulting from abnormal collagen production. The word itself comes from two Greek words: “sclero” meaning hard, and “derma” meaning skin. Hardening of the skin is one of the most visible manifestations of the disease and, when it involves the face, can drastically change one’s appearance.

Receiving this diagnosis is life-altering. Commonly, the hands are affected initially. In the early stages, the fingers become swollen and puffy, especially the fingertips and nail region. Use of the hands becomes extremely limited and difficult. Simply getting up out of a chair turns into a painful process. Those so afflicted find themselves constantly fatigued, and completely drained of energy. There are times they are unable to dress themselves or use stairs of any size.

Scleroderma may manifest in a variety of ways; there is no one standard presentation. It’s a disease whose symptoms may be visible, as is the case when the skin is affected, or they may be invisible, as when internal organs are involved. This results in tremendous variability in the manner in which scleroderma manifests, depending on which parts of your body are affected. And there is no definitive test for diagnosing, but more so a constellation of signs and symptoms, although ertain lab tests can be helpful in guiding the diagnosis.

Nearly everyone experiences a hardening and tightening of patches of skin. This dermal induration can occur on the trunk or the extremities. When the neck and face are so afflicted, facial features take on the characteristic tightened, stiff appearance, referred to as a “mask-face.” The patches can be shaped like ovals or straight lines. They can come to cover large areas of the trunk and limbs. The number, location and size of the patches vary by type of scleroderma.

Skin appears shiny because it’s tight, and movement of the affected area may be restricted. The skin becomes shiny as it grows progressively more hardened and thin. One of the earliest signs of systemic scleroderma is the emergence of Raynaud’s disease, which causes the small blood vessels in your fingers and toes to contract in response to cold temperatures or emotional distress. The lack of blood may be so severe ulcers develop which are extremely difficult to heal.

Scleroderma can cause a variety of digestive symptoms, depending on which part of the digestive tract is affected. If it’s the esophagus, heartburn or difficulty swallowing can result. If the intestines are affected, you might have cramps, diarrhea or constipation. Some people who have scleroderma may also have problems absorbing nutrients if their intestinal muscles aren’t functioning properly and keeping food progressing through the intestines. In more severe cases, eyelid movement can be limited

We remain ignorant of the root cause of scleroderma other than to say it involves the immune system in some fashion. What causes the abnormal collagen production we cannot say. Most likely, scleroderma is caused by a combination of factors, including immune system problems, genetics and environmental triggers.

Scleroderma affects women more often than men (4:1), and most commonly occurs between the ages of 30 and 50. Roughly 1 out of every 4,000 adults have some form of scleroderma and there are many. There is even a pediatric form of the disease.

We don’t know the cause of scleroderma and we don’t have a cure. In fact, we are not able to modify the course of the disease. In general, we can only treat the symptoms. But the goals for our therapies are many. One approach is directed at improving peripheral blood flow with drugs that open blood vessels and anti-clotting drugs. Another direction is preventing the synthesis and release of harmful signaling molecules with immunosuppressant drugs. Also to reduce the formation of fibrotic tissue with agents that reduce collagen synthesis.

It is important to treat the symptoms. Getting pain relief is initially attempted with the use of nonsteroidal, anti-inflammatory medications like ibuprofen. The complications associated with these are well known. The most potent class of anti-inflammatory medications are the corticosteroids, which have many uses and numerous benefits, but many complications.

The itch experienced by those with scleroderma can be severe. There are numerous reports of scratching so much blood is drawn in attempt to quiet the itch. Easing it is best done with skin moisturizers. Another objective is to slow the thickening of the skin. It is essential to minimize the damage to the internal organs, often attempted with immuno-suppressants.

One newer approach some consider radical involves the administration of an extremely high dose of a chemotherapy agent (meaning it’s developed to treat cancer). The effect is to completely obliterate the bone marrow and therefore the immune system. This, hopefully, forces the body to remanufacture them. This is meant to re-program the immune system, which wipes out the abnormal cells, allowing the stem cells to rebuild a new, disease-free immune system.

Scleroderma is chronic: it is an illness that will not go away. This means that it lasts your lifetime. However, like diabetes, high blood pressure, and heart disease, scleroderma can be treated, although this translates to simply managing symptoms. Without question, scleroderma remains a great challenge to patients and clinicians alike, both in diagnosis and treatment. Another of the many diseases we struggle to understand, with few answers, and no solutions.

Editor’s note: Dr. Conway McLean is a physician practicing foot and ankle medicine in the Upper Peninsula, with a move of his Marquette office to the downtown area. McLean has lectured internationally on wound care and surgery, being double board certified in surgery, and also in wound care. He has a sub-specialty in foot-ankle orthotics. Dr. McLean welcomes questions or comments atdrcmclean@outlook.com.

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