WHAT IS SCLERODERMA
Scleroderma is a chronic and debilitating illness.
It is estimated that over 300,000 people in the United States are battling this disease with countless others undiagnosed.
It does not discriminate by age, gender, or genetics, yet many people have never heard of it.
MAKE A DIFFERENCE
WATCH & SHARE
RUN GREG RUN
Award-Winning Documentary
Project Scleroderma’s goal is to tell each patient’s story with compassion and integrity while simultaneously educating the viewer and raising awareness.
WHAT IS PROJECT SCLERODERMA
Project Scleroderma is a 501c3 nonprofit organization dedicated to raising awareness for a rare autoimmune disease called scleroderma. The mission of our organization is carried out by way of documentary films, videos and PSAs highlighting the stories of those who suffer from scleroderma.
To date, Project Scleroderma has produced over 40 videos for scleroderma awareness and patient support since 2011. Our latest documentary “Run Greg, Run” was an NYFA Finalist.
Founder, Christy McCaffrey, started this organization after witnessing and experiencing her own mother struggle to fight this disease and ultimately lose her life to scleroderma in 2009.
For the past 13 years, Project Scleroderma has worked with scleroderma patients all over the U.S. to help shed light on their experiences and challenges with this rare disease. We have also partnered with many leading researchers and organizations dedicated to creating life saving therapies and treatments, such as > The Johns Hopkins Scleroderma Center and > The Scleroderma Research Foundation
SYMPTOMS AND EDUCATION
Below you will find some more information about what scleroderma is and how it manifests differently from patient to patient.
WHAT IS SCLERODERMA?
Scleroderma is a rare and chronic autoimmune disease characterized by abnormal growth of connective tissue. The word scleroderma means “hard skin”. In scleroderma, there is an overproduction of collagen causing the skin or tissues to become thicker than normal, leading to a hardening and tightening of the skin, with the potential to affect internal organs as well.
The inflammation caused by scleroderma triggers the body’s immune system to mistakenly produce too much collagen. This excess collagen primarily affects the skin, leading to skin tightening and thickening. However, it can also involve internal organs, such as the lungs, heart, kidneys, and the digestive system. This type of internal organ involvement can lead to serious complications.
“It’s important to raise awareness so that we
can find a cure and live the life that we deserve.”
Jessica Massengale
THERE ARE TWO MAIN TYPES OF SCLERODERMA:
Localized and Systemic
What is localized scleroderma?
This form primarily affects the skin and is often milder compared to systemic scleroderma. It usually involves one or a few areas of the skin, and internal organs are typically not affected.
There are two subtypes:
- Morphea: Characterized by thickened, discolored patches of skin.
- Linear scleroderma: Involves bands or streaks of thickened skin, often affecting the limbs or face
What is systemic scleroderma?
This form can affect not only the skin but also internal organs, such as the digestive system, heart, lungs, and kidneys. Subtypes include:
Limited Cutaneous Scleroderma: Primarily involves the skin on the hands, arms, and face. It may also affect the esophagus, lungs, and other internal organs.
Diffuse Cutaneous Scleroderma: Involves widespread skin thickening that can affect large areas of the body, including the trunk and extremities. It is often associated with more significant internal organ involvement.
CREST Syndrome is also a subtype of systemic sclerosis. The term “CREST” is an acronym that represents a group of clinical features associated with this specific subtype. CREST syndrome stands for:
- Calcinosis: Formation of calcium deposits under the skin, which may be visible or felt as hard nodules. These deposits can cause pain and interfere with joint function.
- Raynaud’s Phenomenon: Similar to the common form of Raynaud’s phenomenon, this involves the narrowing of blood vessels in response to cold or stress, leading to color changes in the fingers and toes. The affected areas may turn white or blue and then become red as blood flow returns.
- Esophageal Dysfunction: Dysfunction of the esophagus, which can manifest as difficulty swallowing, acid reflux, or other gastrointestinal symptoms. This occurs due to the involvement of connective tissues in the esophagus.
- Sclerodactyly: Thickening and tightening of the skin on the fingers and toes. This can lead to a claw-like appearance in the hands and may affect hand function.
- Telangiectasia: Small, dilated blood vessels visible beneath the surface of the skin. These often appear as red spots or clusters and are more commonly seen on the hands, face, lips, and tongue.
It’s important to note that CREST syndrome is just one subtype of systemic sclerosis, and not all individuals with systemic sclerosis will have these specific features.
As our Project Scleroderma team has worked closely with hundreds of patients over the years, a clear piece of data that has emerged from our interviews is that this disease truly impacts every person differently. Symptoms, experiences and severity will vary from case to case. It is crucially important to seek guidance from a scleroderma specialist if you suspect that you might have symptoms that are aligned with this illness.
WHAT ARE THE FIRST SIGNS AND SYMPTOMS OF SCLERODERMA?
Scleroderma symptoms can vary widely among individuals.
Common early signs of Scleroderma
It’s important to note that not everyone with scleroderma will experience the same symptoms, and the severity can vary. Some of the early signs and symptoms include:
- Raynaud’s Phenomenon: This is often one of the earliest and most common symptoms. It involves color changes in the fingers and toes in response to cold or stress. The affected areas may turn white or blue and then become red as blood flow returns.
- Swelling and Puffiness: Hands and fingers may appear swollen, and there may be puffiness around the eyes or in the extremities.
- Skin Changes: Skin tightening and thickening can occur, especially in the fingers, hands, and face. This may lead to difficulty moving the affected areas.
- Skin Discoloration: The skin may develop patches of different colors.
- Joint Pain: Some individuals may experience joint pain or stiffness, resembling symptoms of arthritis.
- Digestive Issues: Scleroderma can affect the digestive tract, leading to symptoms such as severe heartburn, difficulty swallowing, and bloating.
- Fatigue: Persistent fatigue or weakness may be present, possibly related to the overall impact of the disease on the body.
If you are experiencing one or several of these symptoms it does not necessarily mean that you have scleroderma. It would be recommended that you consult with your doctor or rheumatologist if any of these symptoms, or a combination of them, persists.
There are many conditions that have symptoms similar to scleroderma and the chances of developing the disease are low, however, it is important to speak with a doctor or specialist if you are concerned about any symptoms you may be experiencing.
WHAT CAUSES SCLERODERMA?
The exact cause of scleroderma is not yet known, but it is believed to involve a combination of genetic, environmental, and immune system factors.
There is no known cure for Scleroderma
Significant progress has been made in managing scleroderma symptoms and some of the most serious complications. Yet, still there is no way to reverse the disease process. This is why support of ongoing research is vitally important.
Project Scleroderma is deeply committed to raising awareness in support of scleroderma research that will continue to advance treatments and ultimately, one day, lead to a cure.
HOW RARE IS SCLERODERMA?
Scleroderma is considered to be a rare autoimmune disease.
An estimated 300,000 Americans have scleroderma (about 100,000 with systemic scleroderma and 200,000 with localized scleroderma).
This disease can affect anyone of any age, sex, or race, however some groups are at higher risk.
The disease is more commonly diagnosed in women than in men, with approximately 80% of the patient population being female. Scleroderma can occur at any age, but its onset is most common in individuals between the ages of 30 and 50.
It is our goal at Project Scleroderma to tell help share a wide range of patient stories and perspectives. Although the disease primarily affects women, it can also affect men and children as well.
Greg Cohen, a male scleroderma patient and fitness trainer, shared his story with Project Scleroderma saying that “My passion is fitness and the ability to motivate, coach and inspire others. My diagnosis with Scleroderma has played a significant role in my fitness and wellbeing, it has made things challenging because of the tightness in my body and how tired I can be.”
Greg’s sentiment is shared by many who are facing the challenges of life with scleroderma. They may not appear to be sick, but the reality is that their body is battling difficult and painful symptoms day in and day out, as they struggle to carry out their normal daily activities.
HOW CAN SCLERODERMA AFFECT MAJOR ORGANS?
Scleroderma, particularly the systemic sclerosis subtype, can affect major organs in the body, leading to a range of symptoms and potential complications.
Impact on Organs
The impact on organs results from the abnormal growth of connective tissue and the overproduction of collagen, which causes fibrosis (scarring) and can disrupt the normal functioning of organs. Here’s how scleroderma can affect major organs:
- Skin: Scleroderma often begins with skin involvement, causing thickening, tightening, and hardening. This can lead to decreased flexibility and mobility. In some cases, individuals may experience color changes, such as Raynaud’s phenomenon, where fingers and toes turn white or blue in response to cold or stress.
- Lungs: Scleroderma-related lung disease is a common complication, characterized by inflammation and fibrosis in the lungs. This can lead to reduced lung function, shortness of breath, and a persistent cough. In severe cases, pulmonary arterial hypertension (PAH) may develop, causing high blood pressure in the arteries supplying the lungs.
- Heart: Scleroderma can affect the heart in various ways. It may cause inflammation of the heart muscles, scarring, and fibrosis.
- Gastrointestinal Tract: The digestive system is commonly affected in scleroderma. Esophageal dysfunction can cause difficulty swallowing, acid reflux, and heartburn.
- Kidneys: Scleroderma can affect the kidneys, leading to scleroderma renal crisis in some cases.
- Muscles and Joints: Joint pain and stiffness are common symptoms in scleroderma. In addition, muscle involvement may lead to weakness and difficulty in performing daily activities.
- Blood Vessels: Scleroderma can affect blood vessels, leading to Raynaud’s phenomenon, where small blood vessels constrict in response to cold or stress. This can result in reduced blood flow to fingers and toes, causing color changes and potential ulcerations.
- Endocrine System: Scleroderma can impact the endocrine system, affecting various glands. For example, the thyroid gland may be involved, leading to thyroid dysfunction.
SCLERODERMA RELATED LUNG DISEASE
One significant aspect of systemic sclerosis is its potential to affect the lungs.
Impact on Lungs
In systemic sclerosis, fibrosis can occur in the lungs, causing inflammation, scarring, and a decrease in lung function. This can result in symptoms such as shortness of breath, persistent cough, and difficulty breathing.
Lung involvement in scleroderma may be detected through pulmonary function tests, imaging studies, and clinical assessments. High-resolution computed tomography (HRCT) scans of the chest can reveal patterns of lung involvement. However, a lung biopsy may be necessary in some cases to confirm the diagnosis and assess the extent of fibrosis.
Individuals with scleroderma are also at an increased risk of developing pulmonary arterial hypertension (PAH), a type of high blood pressure that affects the arteries in the lungs. PAH can lead to shortness of breath, fatigue, and an increased workload on the heart.
Blood tests play a crucial role in the diagnosis and monitoring of scleroderma. Autoantibodies are often present in individuals with systemic sclerosis. These antibodies can aid in subtype classification and provide insights into the potential disease course.
The management of scleroderma involves a multidisciplinary approach, with healthcare professionals collaborating to address various aspects of the disease. Regular monitoring, including lung function tests and imaging studies, is crucial for early detection and intervention in scleroderma-related lung disease and other potential complications.
SUPPORT AND TREATMENT
FIND A TREATMENT CENTER
Dee Burlile, a scleroderma patient who also suffers from PAH shared with Project Scleroderma that “Awareness for PAH and Scleroderma is so important. I have also been able to participate in many interesting clinical trials and studies. It is helps to know that you are a part of a bigger picture.”
GETTING CARE
If you have been diagnosed with scleroderma we encourage you to seek care and consultation at a specialized treatment center. Specialized treatment centers can be found throughout the U.S.
Please visit the below link for a list of treatment centers provided by The Scleroderma Research Foundation (www.srfcure.org):
