Scleroderma

What is scleroderma?

Scleroderma is a rare autoimmune disorder. Also known as systemic sclerosis, or SS, the condition typically appears in middle age, often between ages 30 and 50. As an autoimmune disorder, scleroderma causes the immune system to attack the body. In this case, the immune system mistakes otherwise healthy tissues for a foreign substance or infection, triggering the overproduction of collagen. The extra collagen is then deposited in the skin and organs, which causes a thickening and hardening, which can look similar to a scar.

While scleroderma is most often diagnosed in middle age, it can affect anyone. While the skin is most commonly affected, this condition can also impact the muscles, digestive system, lungs, kidneys, blood vessels, and heart. A physician may use any of the following terms to describe the condition.

• Scleroderma
• Systemic sclerosis (both diffuse and limited)
• Progressive systemic sclerosis
• CREST syndrome, which stands for calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia

What are the symptoms of scleroderma?

The symptoms of scleroderma will depend on the body parts affected. However, most people see scleroderma symptoms emerge first in the skin. This is where the early stages of the condition are most noticeable. Those with scleroderma may notice a thickening skin that appears shiny, especially around the mouth, nose, fingers, and other bony areas. These hardened, tightened patches can have nearly any shape and be of any size. This may be accompanied by hair loss, joint pain, calcium deposits (white lumps under the skin), and shortness of breath.

However, many scleroderma symptoms are felt, not seen. The condition can affect several other body parts and systems.

• Toes and/or Fingers: This is also an area in which scleroderma is commonly experienced. Here, the small blood vessels in the fingers and toes may contract involuntarily, often in response to emotional stress or extreme cold. This contraction can cause the phalanges to feel painful or numb or turn blue. This is also known as Raynaud’s disease, and it can occur as its own condition or as part of a scleroderma experience and diagnosis.
• Heart, Kidneys, and/or Lungs: Scleroderma symptoms can affect smooth muscle tissue, such as that found in the heart, kidneys, and lungs. When this happens, it can affect these organs’ function. If left untreated, this can be come life-threatening.
• Digestive system: Scleroderma can affect several different parts of the digestive tract, and this can cause several possible symptoms. Those experiencing the condition in the intestines may experience cramps, diarrhea, constipation, or bloating, while those with scleroderma in the esophagus can have extreme heartburn and difficulty swallowing. Additionally, the tissue thickening experienced with scleroderma may affect the way in which a person absorbs nutrients and moves food through the intestinal tract.

What causes or triggers scleroderma?

Doctors are not sure what causes scleroderma. The overproduction and accumulation of collagen creates the symptoms, but there is little understanding of why the body produces the excess collagen in the first place. However, there are several known risk factors that can predispose a person to developing this condition. Scleroderma risk factors include the following.

• Genetics: Those with certain gene variations are more likely to develop the condition. This may explain why scleroderma can run in families and certain ethnic groups.
• Immune system issues: Scleroderma is an autoimmune disease. In around one-fifth of scleroderma cases, the individual has symptoms of another autoimmune disease, especially rheumatoid arthritis, Sjogren’s syndrome, and/or lupus.
• Environmental triggers: While this is the least likely of the contributing factors, it is worth acknowledging. Some research suggests that scleroderma symptoms can be triggered by an exposure to some viruses, medications, or drugs. Additionally, repeated exposure to certain harmful substances and chemicals can increase a person’s risk of developing this condition.

What are the different types of scleroderma?

There are several forms of scleroderma. Each is distinct in that it affects a different part of the body, either in a localized or systemic manner.

• Localized scleroderma is the more common form of the condition. It typically only affects a person’s skin, often in just a few places. This type of scleroderma may go away without treatment, but it can also morph into a systemic condition.
• In contrast, diffuse scleroderma, also known as systemic scleroderma, affects many parts of the body. This is the more serious form of the condition. Without intervention, it may become serious and life-threatening.
• There is also a form of scleroderma that sits between localized and diffuse. Known as CREST syndrome, or limited scleroderma, this condition does not affect the kidneys. Skin thickening is restricted to the fingers, hands, and forearms, and digestive disruption is confined to the esophagus. CREST syndrome stands for Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia, all of which are symptoms of this more limited form of the disease.

Some physicians may also refer to a form of the condition known as end-stage scleroderma. This typically affects the lungs and occurs when the build up of collagen affects the transport of oxygen into the bloodstream. This type of scleroderma is typically accompanied by shortness of breath, a persistent cough, and the inability to perform routine physical activities. End-stage scleroderma often causes pulmonary fibrosis and/or pulmonary hypertension, both of which can be life-threatening.

How is scleroderma diagnosed?

Scleroderma symptoms are nebulous, affecting varied parts of the body in different ways. As a result, it can be hard to know how to diagnose scleroderma. In most cases, the process begins with a thorough physical exam wherein the doctor will identify any changes to your skin that may be symptomatic of the condition. The doctor may then suggest a blood test, which will check for elevated antibody levels. This is characteristic of an autoimmune disease, making a blood test necessary to receive an accurate diagnosis.

Other diagnostic tests may be used to confirm the condition. This can include chest X-rays, a urinalysis, a CT scan of the lungs, and skin biopsies. All possible diagnostic tests must be administered by a doctor in a medical setting. In other words, you cannot diagnose scleroderma yourself.

It can be difficult to know when to see a rheumatologist or physician. If you suspect you have scleroderma, however, making an appointment now can significantly slow the disease’s progression. It is not possible to diagnose scleroderma by observation alone, and only a specialist will know what the disease looks like. When in doubt, visit your doctor for scleroderma symptoms. If you can, make a scleroderma diagnosis appointment with a rheumatologist.

What is the best treatment for scleroderma?

There is no known cure for scleroderma, and there are no medications that can stop the collagen overproduction characteristic of the condition. That said, there are several treatments that can help mitigate scleroderma symptoms, which can then prevent complications. Your doctor may recommend steroid creams to reduce swelling and joint pain, or you may be prescribed blood pressure medication to dilate blood vessels. Antibiotic ointments are commonly used to clean and protect skin lesions, and immunosuppressants may be used to reduce systemic symptoms. Stomach acid reducers and over-the-counter pain relievers are also frequently recommended.

There are also lifestyle changes scleroderma patients can make to reduce symptoms. Staying active, for example, can improve circulation and relieve stiffness, while avoiding cigarettes and nicotine can alleviate blood vessel contraction.

However, as demonstrated above, scleroderma is treated symptomatically. This means each person with the condition must receive a treatment regimen for their specific set of symptoms. Autoimmune disorders are difficult to treat and manage. It is imperative that people with scleroderma receive targeted, personalized treatment recommendations from their rheumatologists and physicians. Scleroderma affects people differently. Your treatment plan should reflect your experience with the condition, and only a rheumatologist or physician can provide that insight.

What is the life expectancy of a person with scleroderma? Is it fatal?

As a chronic disease, scleroderma can significantly change the lives of the people it affects. Symptoms may appear and disappear without warning, and the most extreme symptoms can lead to cancer, kidney failure, high blood pressure, and heart failure. It can be difficult to understand the severity of the condition without the help of a doctor.

People who have localized scleroderma may live an uninterrupted life with only minor symptom experiences and management. On the other hand, those diagnosed with an advanced and systemic version of the disease have a prognosis of anywhere from three to 15 years. The prognosis will depend on the severity of a person’s symptoms and potential complications. It is important to remember that scleroderma on its own is not deadly. Life-threatening conditions arise from symptoms and complications that are left untreated.

That said, scleroderma treatments have improved significantly in the past several decades. While there is no definitive cure for the condition, there are several treatment options available to mitigate the most life-affecting symptoms. If you suspect you have scleroderma, in any of its iterations, schedule an appointment with your doctor. It is always better to have more information about your symptoms, especially when it comes to a chronic disease like scleroderma.