Systemic sclerosis

Systemic sclerosis is an autoimmune disease that affects the skin and other organs of the body, which means that the body’s immune system is causing inflammation and other abnormalities in those tissues. The main effect of scleroderma is thickening and hardening of the skin, and inflammation and scarring of many parts of the body that cause problems in the lungs, kidneys, heart, digestive system and other areas. There is still no cure for scleroderma, there are already effective treatments for some forms of the disease.

Scleroderma is relatively uncommon. Approximately 75,000 to 100,000 people in the United States suffer from this disease; mostly women aged 30 to 50. Twins and relatives of those with scleroderma or other autoimmune connective tissue diseases, such as lupus, may be slightly more vulnerable to scleroderma.

While the root cause is still unknown, promising research sheds light on the relationship between the immune system and scleroderma. There is also a lot of research going on to find better treatments for scleroderma and hopefully one day find a cure.

What is scleroderma?

Scleroderma is a chronic disease that causes the skin to become thick and hard; it presents an accumulation of scar tissue and damage to internal organs such as the heart and blood vessels, lungs, stomach and kidneys. The symptoms of scleroderma vary widely and range from minor to life-threatening, depending on the extent of the disease and which parts of the body are affected.

The two main types of scleroderma are:

Localized scleroderma usually affects only the skin, although it can spread to the muscles, joints and bones. Does not affect internal organs. Some symptoms are discolored spots on the skin (a condition called morphea), stretch marks, strips of thick, hard skin on the arms and legs (called linear scleroderma). When linear scleroderma appears on the face and forehead, it is called coup de sabre.
systemic scleroderma , the most serious form of the disease, affects the skin, muscles, joints, blood vessels, lungs, kidneys, heart and other organs. There are two main forms of systemic scleroderma: limited cutaneous systemic sclerosis (also called CREST syndrome) and diffuse cutaneous systemic scleroderma.

In limited cutaneous systemic sclerosis (CREST syndrome) , the thickening and thickening of the skin is usually limited to the fingers and toes. This form of scleroderma is also associated with the formation of calcified nodules under the skin, Raynaud’s phenomenon, problems with the movement of the esophagus and dilated blood vessels in the skin, which are called telangiectasis. This form is also associated with pulmonary hypertension. Anti-centromere antibodies are frequently seen in this form of scleroderma in a blood test.
In diffuse systemic cutaneous scleroderma , the thickening and thickening of the skin usually extends from the hands to the region above the wrists. This form of the disease most often involves internal organs, such as the lungs, kidneys or gastrointestinal tract.

The cause of scleroderma is not known. Genetic factors (different genes) appear to be important in the disease.

How is scleroderma diagnosed?

There is no blood test that can tell someone with certainty that they have scleroderma, although numerous antibodies have been associated with the condition. To make a diagnosis, the doctor will ask the patient about his medical history, perform a physical examination and possibly order laboratory analysis and X-rays. A careful clinical evaluation is the main method for controlling scleroderma. Some of the symptoms the specialist will look for are:

Raynaud’s phenomenon: This term refers to the color changes (blue, white and red) that occur in the fingers (and sometimes the toes), often after exposure to cold temperatures. It occurs when blood flow to the hands and fingers is temporarily reduced. This is one of the first signs of the disease: more than 90% of patients with scleroderma have Raynaud’s Phenomenon. It can cause swelling in the fingers, changes in color, numbness, pain, ulcers and gangrene in the skin of the fingers.
Thickening, swelling and hardening of the skin: this is the problem that gives rise to the name “scleroderma” (“sclero” means hardness and “derma” means skin). The skin may also become atypically shiny, dark, or light in some places. Sometimes, the disease produces changes in the physical appearance, especially in the face. When the skin becomes extremely tight, the function of the affected area may be reduced (for example, the fingers).
Dilated blood vessels on the hands, face and around the nail beds (called “telangiectasis”).
Calcium deposits in the skin or other areas.
Hypertension due to kidney problems.
Heartburn is an extremely common problem in scleroderma.
Other problems of the digestive system such as difficulty swallowing food, abdominal distension and constipation, or problems absorbing food, which causes weight loss.
Difficulty breathing.

How is scleroderma treated?

While there are some treatments that are effective in treating some aspects of this disease, there is no drug that has been clearly shown to stop or reverse the main symptom of thickening and hardening of the skin. Doctors aim to reduce individual symptoms and prevent further complications with a combination of medication and personal care. For example:

Raynaud’s Phenomenon can be treated with medications such as calcium antagonists or PDE-5 inhibitors, which open narrowed blood vessels and improve circulation. To prevent a major illness, it is important to keep the whole body warm, especially the fingers and toes. It is also important to protect the fingertips and other areas of the skin from injury, which can occur even during normal daily activities.
Heartburn (acid reflux) can be treated with antacids, especially proton pump inhibitors (omeprazole and others). These medications relieve gastroesophageal reflux disease.
Scleroderma kidney disease can be treated with blood pressure medications called “angiotensin-converting enzyme inhibitors” (ACEIs). Generally, these medications can effectively control kidney disease if treatment is started early.
Muscle pain and weakness can be treated with anti-inflammatory medications such as intravenous immunoglobulin (IVIg) or immunosuppressant medications. Physiotherapy and occupational therapy can be helpful in maintaining joint and skin flexibility.
There are two types of lung disease that patients with scleroderma can suffer from.

The first type is called interstitial lung disease. There is evidence that immunosuppressive treatments are effective in the treatment of interstitial lung disease in patients with scleroderma.

The second type of lung disease seen in scleroderma is pulmonary arterial hypertension (high blood pressure in the arteries of the lungs). During the last 10 years, several drugs have appeared to treat this disease, such as prostacyclin antagonists of endothelin receptors and PDE-5 inhibitors.