Suffering In Silence: Scleroderma

Scleroderma is a group of rare diseases which involve the hardening and tightening of the skin and connective tissues of the patients who receive a positive diagnosis. This group of diseases also can affect structures beyond the skin including blood vessels, internal organs, and the digestive tract.

Many of those who grapple with the disease are known within the medical community to be suffering in silence because the nature of the affliction manifests itself with internal symptoms and the patient seems outwardly to have nothing noticeably wrong. This internal manifestation is also seen as one of the main reasons why the disease has a low awareness level among the general public.

Scleroderma, according to the Mayo Clinic, affects women with greater frequency than men with the most common age range for diagnosis being between 30 and 50 years of age. The rationale behind the fact that the diagnostic pattern seems skewed heavier toward women is unknown.

Scleroderma is also known as chronic connective tissue disease and systemic sclerosis. There are an estimated 300,000 diagnosed cases in the United States, but it should be noted that since the symptoms are similar in their presentation to other diseases or disorders, doctors feel that many more people are impacted but are misdiagnosed or undiagnosed.

The medical community has split the disease into two main types:
• Localized – mild in nature and usually confined to only the skin. This type rarely progresses to systemic, the more severe form of the disease.
• Systemic – involves the hardening of more than just isolated areas of the skin. It generally affects a greater area of the skin and frequently progresses to include the hardening of one or more internal organs.

Not “Just A Skin Disease”

The most common misconception of Scleroderma within the general public is that it is “just a skin disease”; that could not be further from the truth. The disease is rather serious and very often has debilitating effects on the mobility, vital organs, and emotional state of those who suffer from it. Scleroderma is a progressive disease, meaning if the correct treatment is not provided, then a mild case can progress into a severe case rather rapidly. This progressive component of the disease is particularly troubling when the number of misdiagnosed or undiagnosed potential cases are taken into account.

The lungs, the kidneys, the digestive system, and the heart are the most common organs which are attacked by the systemic form of Scleroderma. In many cases those diagnosed with the systemic form will be affected by the disease impacting multiple organ systems. The medical community estimates that between 75 – 90% of cases demonstrate some form of digestive system issue.

Diagnosis

Scleroderma can be difficult to diagnose due to the myriad of symptoms presented and by the numerous bodily systems it can effect. This difficulty during examination to adequately differentiate scleroderma from another medical issue leads to an unfortunately high rate of misdiagnosis. It is commonly misdiagnosed as rheumatoid arthritis or lupus due to the inflammation of the joints and the effect on the skin.

The most common diagnostic pathway for physicians is to initially order a blood test to check for elevated levels of antibodies present; which would be indicative of an increase in immune system activity. Then a biopsy of the skin tissue would characteristically be done to determine the cause of the skin cell abnormality.

Other diagnostic testing could include a CT scan of the lungs to determine if any irregularities are present in that important organ. A pulmonary function test would be administered and an echocardiogram would be done if the patient demonstrated respiratory or pulmonary issues.

Treatment Options

While there is no cure for Scleroderma, several treatment options exist to slow the progression of symptoms related to the disease. The skin hardening and other dermatological issues could slowly diminish in 3 to 5 years in some cases, according to the Mayo Clinic. Those with the systemic form of the disease will have to grapple with the progression of organ damage over a period of time provided that certain treatment options are proven to be ineffective.

Unfortunately the pharmaceutical route for treatment is an indirect solution because no drug has been designed to stop the overproduction of collagen which is the root cause of the disease. However, various medications can assist in controlling the effects of symptoms as well as assist in decreasing complications associated with the disease.

The medications involved in the treatment of Scleroderma utilize a variety of methods to neutralize the progression of the disease by dilating blood vessels to help assist problems with lung and kidney functions, reduce stomach acids to ease the gastrointestinal issues, immunosuppressant products to help those patients who have undergone organ transplants, antibiotic creams to treat the skin as a first line treatment, and pain relievers such as anti-inflammatory products to treat the pain associated with the disease. The surgical route is usually a last resort and utilized in amputation of fingers or toes.

Role of “Big Pharma”

This disease is one of many where the cure is not known, yet the “big pharma” industry is unwilling to initiate the process of finding a new medication to combat the terrible effects of this condition. The potential impact of a pharmacologic treatment program would be immeasurable to the patients impacted by this painful and traumatic disease. The fact that the disease predominately effects those in the 30 to 50 year old range is a concern on a variety of levels.

Many patients diagnosed with this disease are in the prime earning years of their respective careers. The case can definitely be made that the economic impact of their collective lost wages from time missed at work due to the course of the disease, coupled with the lost productivity to the business community warrants the medical and pharmaceutical community to determine better treatment options for those with Scleroderma.

In the event that the pharmaceutical industry does not see a financial benefit to the development of a new product to treat Scleroderma, other groups may be able to exert influence based on the impact of the lost wages, productivity, and economic reinvestment into the consumer driven economy.

Conversely, the pharmaceutical industry faces several hurdles in the research and development of new potential medications in a constantly changing marketplace. The research costs and the sheer magnitude of the front end costs associated with all of the clinical trial data involved in the process of pharmaceutical development is unfortunately prohibitive.

The future for treatment options relative to this disease holds some promise. The scientific research community is learning more each day about the human body and the way it responds to any number of conditions both internally and externally.

According to Johns Hopkins University, the most active area for research in the treatment of Scleroderma is with drugs that alter fibrotic reaction. Those in the audience without medical backgrounds, fibrosis is the death of cells. The research currently is focused on the direct suppression of the ability of the fibroblast to make collagen which they hope will inhibit cytokines from activating fibroblast agents that break down collagen faster.

The theory being that if a method could be developed to essentially block the death of collagen cells in the skin, the effects of Scleroderma could be slowed dramatically or reversed to some degree. It would basically serve as a choke point at the initial point of the disease at the skin cell level.

The fact remains that hundreds of thousands of people in America are suffering with the effects of Scleroderma each day with many more either undiagnosed or misdiagnosed. Those who have been diagnosed properly are suffering in silence because the rigors of this disease can exert a tremendous physical toll. Those who are not diagnosed properly are suffering because their symptoms are not being treated or managed effectively.

Scleroderma is a painful affliction which impacts the body in a number of levels. The characteristic skin hardening effects the ability of the patient to do simple tasks because it very often decreases the dexterity in their hands and feet. Therefore, even simple tasks such as brushing your teeth or dressing yourself become difficult. The loss of feeling in the feet of a diagnosed person can mean difficulty walking and going down a flight of stairs without assistance.

In addition, the ravaging effects of the disease on the gastrointestinal system, the nervous system, and the lungs can result in terrible potential long term consequences for those suffering with Scleroderma.

The public perception and the fundraising efforts around this terrible disease can most effectively be elevated through concerted action on the community and grassroots level. The pathway toward a cure is not feasible until our society recognizes that Scleroderma is more than just a skin disease and that the progression of the disease impacts more than just the patient, it effects entire family units.

The call to action could be anything from drafting a petition to Congress or a state level legislature, to organizing a walk to raise awareness in your community, or having a bake sale at your school or local community center to raise funds for the cause through one of the approved charitable organizations involved.

It is clear that it has to start in the communities, on the local level, to help those who are suffering silently with this disease. In many cases, patients feel like nobody cares. They should not suffer alone, and getting involved will insure that they will no longer have to do so in the future.