Make an Appointment
Talk to DoctorOverview
Scleroderma, also known as systemic sclerosis, is a group of rare diseases characterized by the hardening and tightening of the skin. It can also affect the blood vessels, internal organs, and digestive tract. The condition is chronic and autoimmune in nature, where the immune system prompts the production of excessive collagen, leading to the deposition of thick fibrous tissue in the skin and organs.
There are two main types of sclerodermas: localized and diffuse. Localized scleroderma, also called morphea, only affects the skin and typically appears as waxy patches or streaks. It tends to be less severe and may resolve without treatment. Diffuse scleroderma, on the other hand, affects multiple parts of the body, including the skin and internal organs. This form can be more serious, impairing digestive and respiratory functions and potentially leading to kidney failure.
Limited scleroderma, also known as CREST syndrome, is a subtype characterized by specific features represented by each letter of the acronym. It primarily affects the skin on the fingers, hands, forearms, feet, and legs. Limited scleroderma does not typically involve kidney problems, and digestive complications are mostly confined to the esophagus. However, there is a risk of developing pulmonary hypertension, a condition in which the arteries from the heart to the lungs narrow, resulting in high pressure on the right side of the heart and potential heart failure.
Although there is no cure for scleroderma, treatments aim to alleviate symptoms, slow down disease progression, and enhance quality of life. It is essential for individuals with scleroderma to receive appropriate medical care and monitoring, especially in cases of diffuse or limited scleroderma where there is a higher risk of severe organ involvement. Early detection and management of complications such as pulmonary hypertension can be crucial in ensuring better outcomes for patients.
Symptoms
The signs and symptoms of scleroderma differ from person to person based on the areas of the body that are affected.
Signs and symptoms of the skin
Scleroderma typically manifests as a progressive tightening and hardening of the skin, affecting various areas of the body. Initially, it commonly affects the fingers, hands, feet, and face, and may also extend to the forearms, upper arms, chest, abdomen, lower legs, and thighs. Early symptoms may involve swelling and itching, while the affected skin can display changes in color, appearing either lighter or darker, and exhibiting a shiny appearance due to tightness. Additionally, individuals with scleroderma may develop small red spots called telangiectasia on their hands and face, and calcium deposits can form under the skin, particularly at the fingertips, resulting in visible bumps detectable on X–rays.
Raynaud’s phenomenon
Scleroderma patients frequently have Raynaud’s phenomenon, which is brought on by an incorrect and excessive contraction of the tiny blood vessels in their fingers and toes in response to cold or emotional stress. The digits may turn white, blue, or red and become painful or numb when this occurs. People without scleroderma can also have Raynaud’s phenomenon.
Digestive problems
Scleroderma has the potential to impact various components of the digestive system, encompassing the esophagus to the rectum. Symptoms experienced will vary based on the affected areas and can manifest as heartburn, challenges with swallowing, bloating, diarrhea, constipation, or fecal incontinence.
Heart and lung issues
Scleroderma, when it affects the heart or lungs, can lead to various symptoms including shortness of breath, reduced exercise capacity, and dizziness. The condition can cause scarring in the lung tissues, which gradually worsens over time and results in an increasing difficulty in breathing. Fortunately, there are medications available that can help slow down the progression of this lung damage.
Another complication that can arise from scleroderma is pulmonary hypertension, which refers to increased blood pressure in the circulation between the heart and lungs. Aside from causing shortness of breath, pulmonary hypertension can lead to the accumulation of excess fluid in the legs, feet, and sometimes around the heart.
Moreover, when scleroderma affects the heart, it can disrupt the regular heartbeat rhythm, leading to irregular heartbeats. Additionally, some individuals may develop heart failure as a consequence of this condition.
Causes
Scleroderma is a condition whose exact cause remains unknown. While there are instances where it can be inherited within families, the majority of cases do not have a family history of the disease. Importantly, it is crucial to note that scleroderma is not contagious.
The development of scleroderma stems from an excessive production and buildup of collagen in the body’s tissues, including the skin. Collagen is a type of fibrous protein that forms the connective tissues throughout the body. Although the precise trigger for this process is not yet understood, it is believed that the immune system’s functioning plays a role. It is likely that scleroderma arises from a combination of factors, including issues with the immune system, genetic predisposition, and environmental triggers.
Risk factors
Scleroderma can affect everyone, but women are far more likely to develop it than men are. Scleroderma risk appears to be influenced by a number of interrelated variables, including:
- Environmental factors. According to research, some people’s scleroderma symptoms may be brought on by exposure to specific viruses, medicines, or treatments. Scleroderma risk may also be increased by repeated exposure to some dangerous agents or chemicals, such as those present at work. For the majority of persons, no environmental trigger has been discovered.
- Heredity. It appears that people with specific gene variants are more prone to develop scleroderma. This may help to explain why some cases of scleroderma seem to run in families and why some ethnic groups are more likely to develop specific kinds of the disease.
- Immune system issues. Scleroderma is thought to be an autoimmune condition. This indicates that it happens in part as a result of the immune system of the body attacking the connective tissues. Sjogren’s syndrome, lupus, or rheumatoid arthritis are a few examples of autoimmune diseases that can present symptoms in people with scleroderma.
Diagnosis
Scleroderma can be challenging to diagnose since it affects so many different body parts and can manifest in so many different ways.
Your doctor may recommend blood testing to check for high levels of specific antibodies produced by the immune system following a complete physical examination.
To assist identify whether your digestive system, heart, lungs, kidneys, or other organs are impacted, your doctor may also recommend additional blood testing, imaging, or organ–function tests.
- Blood tests: 95% of people with scleroderma have elevated levels of immunological factors called antinuclear antibodies. Testing for these antibodies in suspected scleroderma patients can aid with an accurate diagnosis even if they are also found in other autoimmune disorders like lupus.
- Pulmonary function tests: To assess lung function and determine if scleroderma has affected the lungs, several tests are performed. These tests aim to measure the respiratory capacity and detect any signs of pulmonary involvement, which can lead to the formation of scar tissue. In order to confirm or suspect the presence of scleroderma, medical professionals often utilize X–rays or computed tomography (CT scan) to examine potential lung damage caused by the condition.
- Electrocardiogram: Scleroderma has the potential to cause fibrosis or scarring of the heart tissue, which can result in complications such as congestive heart failure and abnormal electrical activity in the heart. To determine if the disease has affected the heart, a specific test is conducted. This test aims to assess the condition of the heart and identify any potential cardiac involvement caused by scleroderma.
- Echocardiogram: To check for problems including pulmonary hypertension and/or congestive heart failure, this is advised once every 6 to 12 months.
- Gastrointestinal tests: Scleroderma has the potential to impact both the muscular function of the esophagus and the intestinal walls. Consequently, individuals may experience symptoms such as heartburn, difficulty swallowing, impaired nutrient absorption, and disrupted movement of food through the intestine. To assess these conditions, medical professionals may employ an endoscopy, a procedure involving the insertion of a small tube equipped with a camera to examine the esophagus and intestines. Additionally, manometry, a test to gauge the strength of the esophageal muscles, can be conducted.
- Kidney function: When scleroderma impacts the kidneys, it can lead to elevated blood pressure and protein leakage into the urine. In more severe cases, known as scleroderma renal crisis, there can be a sudden and significant rise in blood pressure, potentially leading to kidney failure. The evaluation of kidney function typically involves blood tests.
Treatment
While there is currently no known cure or treatment that can completely halt or reverse the excessive production of collagen associated with scleroderma, there are several treatment options available to manage symptoms and minimize complications.
Medications
The selection of treatment will change depending on the symptoms of scleroderma because it can impact so many various sections of the body. Examples consist of medications that:
- Dilate blood vessels. Raynaud’s phenomenon may be treated with blood vessel–dilating blood pressure medicines.
- Suppress the immune system. Some scleroderma symptoms, such skin thickening or worsening lung damage, may be slowed down by immune–suppressing medications, such as those prescribed after organ transplants.
- Reduce digestive symptoms. Heartburn relief medications can ease the condition. Bloating, diarrhea, and constipation may be lessened by antibiotics and drugs that facilitate the movement of food through the intestines.
- Prevent infections. Fingertip ulcers brought on by Raynaud’s illness may be prevented from getting infected by cleaning them and protecting them from the cold. Regular immunizations against the flu and pneumonia can aid in protecting lungs that have already suffered damage from scleroderma.
- Relieve pain. Your doctor may recommend prescription painkillers if over–the–counter analgesics are ineffective.
Therapies
You can preserve your independence with daily duties while increasing your strength and mobility with the aid of physical or occupational therapy. Hand treatment might help avoid contractures of the hands.
Surgery and other procedures
When more conventional treatments have failed to relieve severe symptoms, stem cell transplants may be a possibility. Organ transplants may be an option if the kidneys or lungs have suffered significant damage.
